Peripheral ameloblastoma (PA) is a rare and unusual variant of odontogenic tumor, which was described only in isolated case reports in literature. The objective of this study was to investigate the clinical profile, treatment and outcome of PA in a consecutive case series.A total of 25 patients with histologically confirmed PA from 2001 to 2015 were retrospectively reviewed in our institution.Of the 25 patients, 22 males and 3 females were identified . The average age was 48.3 years (range 11-81 years) with lingual or palate gingival region being the most common site (76%). The course of disease was less than 6 months in 92.0% (23/25) of all patients . All patients underwent complete surgical removal of the lesions, and one lesion recurrence occurred during the follow-up period.The clinical profile and outcome of PA from Eastern China were elucidated in this retrospective analysis based on a case series. Our experience may provide some insights into the differential diagnosis and clinical management of PA. The first choice of treatment is surgical excision, which can result in a good prognosis. Key words:Peripheral ameloblastoma, clinical profile, outcome. Peripheral ameloblastoma (PA) is a rare and unusual variant of odontogenic tumor, which accounts for 1-5% of all ameloblastomas. It is also known as the extraosseous ameloblastoma, soft tissue ameloblastoma, ameloblastoma of mucosal origin, or ameloblastoma of the gingiva . PA is aPA was first reported in the literature by Kuru in 1911 , and a cAll the medical records of patients with pathological diagnoses of PA n = 25) from January 2001 to December 2015 were reviewed retrospectively in a standard computerized database from the Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine. The histopathologic diagnosis of all cases was routinely determined by an oral pathologist on duty from the Department of Oral Pathology, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine. According to the WHO criteria for PA5 from Ja, reexami- Patient demographicsOf the 25 PA patients, 22 were males and 3 were females with a male-to-female ratio of 7.3:1. The age of the patients ranged from 11 to 81 years with a mean of 48.3 years. The majority of PA patients (48.0%) were in the fourth (n=5) and fifth (- Course of disease The course of disease was less than 6 months in 92.0% (23/25) of patients .- Symptoms Most patients reported a gradually growing and painless mass without obvious symptoms, except for one patient reported swelling for one month and one patient reported a slightly painful mass for 2 months.- Physical examinationThe majority of lesions (76.0%) were less than 2.0 cm . The masses were mobile, clearly palpable, and moderate to hard in hardness without obvious infiltration.- Location The sites of occurrence were shown in - Image examination Computed tomography (CT) and magnetic resonance imaging (MRI) revealed a well-demarcated circular mass. However, the tumor was not enhanced on contrast CT, and a short signal was observed in T1 and T2-weighted MRI images. CT and MRI usually demonstrated no invasion to the jaws and adjacent muscles. Representative image examination of one case is shown in Figure - Laboratory examination Routine laboratory tests were performed in all patients, and all the results were within the normal reference ranges.- Preoperative clinical diagnosis Preoperative clinical diagnosis was difficult to make, especially in the absence of biopsy or fine needle aspiration cytology. The differential diagnoses included epulis (n = 8), fibroma (n = 5), oral ulcer (n = 3), lymphoma (n = 5), and oral squamous cell carcinoma (n = 3).- Treatment All patients underwent complete surgical removal of the lesions under local (1% lidocaine) or general anesthesia. All specimens were processed for routine histopathologic examination. For small lesions, conservative supra periosteal surgical excision was performed with adequate disease-free margins. While for large lesions, incisional biopsies were performed when differential diagnosis included malignant lesions before operation. Partial bone was resected if cuplike or saucerized bone involvement was detected during the operation. Primary closure and wound healing were achieved in all patients.- Gross specimenThe lesions were mostly described as a firm to slightly spongy mass of pink to pinkish grey. The cut surface may contain minute cystic spaces filled with clear, pale-yellow fluid. As occasional areas of dystrophic calcification were very small, they were not disclosed by cutting through the specimen or on a radiograph of the operation specimen. The size of the masses ranged from 0.5*0.3cm to 3.2*3.0cm with a mean of 1.5*1.4 cm. Re-presentative gross specimen of one case is shown in Figure - Pathologic diagnosisThe postoperative pathologic diagnosis was PA in all patients. Most of the epithelial islands exhibited palisading of columnar basal cells, and stellate reticulum was seldom conspicuous. Bone or periosteum was not involved in the pathology of PA patients. Representative histopathology of one case is shown in Figure - Follow-up The follow-up period of the patients ranged from 3 to 180 months with a mean of 61 months. During the follow-up period, only one case recurred. The recurrent PA developed from the general site of the original lesion, and the reason was speculated to be incomplete removal rather than aggressiveness. Overall, all patients had good quality of life.In the English-language literature, there were few case series of the demographics and clinical data of PA because of its low incidence rate. This disease was described only in isolated case reports in literature. According to the clinical data of literature review ,4, PA ocPA is frequently an incidental finding during a routine dental examination. As such, it is a challenge for clinicians to make a correct diagnosis at its first presentation. Imaging modalities, such as CT and MRI, may be helpful for the diagnosis as they can sometimes clearly demarcate the lesions. This is because in most cases, the lesions are located near the bone and within the normal tissue boundaries. Bone involvement known as cupping or saucerization is rare in PA patients. Saucerization refers to a depression made from the pressure of the tumor on bone. However, it is usually mild with no neoplastic invasion or marrow infiltration . The denThe clinical manifestations of PA, such as the course of disease, lesion growth and symptoms, are not specific for PA, making it difficult to distinguish between PA and some other lesions, such as epulis, fibroma, squamous cell carcinoma, and lymphoma ,13. For For small lesions, conservative supra periosteal surgical excision with an adequate disease-free margin is recommended even in the case of no confirmed diagnosis. While for large lesions, incisional biopsies were performed when differential diagnosis included malignant lesions before operation. Partial bone was resected if cuplike or saucerized bone involvement was detected during the operation. Continuous follow up is necessary due to the possibility of late recurrence or malignant changes.In summary, the clinical profile and outcome of PA from Eastern China were elucidated in this retrospective analysis based on a case series. Our experience may provide some insights into the differential diagnosis and clinical management of PA. The first choice of treatment is surgical excision, which can result in a good prognosis.


Mesenchymal chondrosarcoma (MCS) is a malignant cancer of the cartilage that accounts for less than 1% of all chondrosarcomas and typically occurs within the bone. One-third of all mesenchymal chondrosarcomas are extraosseous soft tissue sarcomas, rendering this as an uncommon entity. We report a rare case of an extraosseous chondrosarcoma with the cervical spinal canal in a 21-year-old male. The purpose of this case report is to discuss the imaging characteristics of this pathology proven diagnosis.  Extraosseous mesenchymal chondrosarcoma (MCS) is an aggressive, high-grade malignant tumor predominantly of the bone and also of the soft tissue that demonstrates a biphasic pattern of small cells with islands of atypical cartilage. It represents 1% or less of all chondrosarcomas, in which one-third are extraosseous . MCS affExtramedullary, intradural location of MCS is exceedingly rare with a limited number of cases reported in the United States –7. HereiA 21-year-old white male presented to his primary care provider with a 3-month history of neck pain with stiffness, tingling, and paresthesias in his right arm at the C6–C8 dermatomal distribution. He also complained of loss of dexterity, loss of grip strength, and some gait instabilities. His exam was positive for Babinski's sign on the right and some vision loss. An initial brain magnetic resonance imaging (MRI) was normal. Contrast enhanced cervical spine MRI demonstrated an enhancing intradural extramedullary T1 isointense and T2 hypointense mass at the level of C2-C3, anterior to cervical spinal cord and resulting in severe spinal canal stenosis. There is mass effect with posterior displacement of the cord, cord compression, and cord edema Figures .Subsequently, decompression with bilateral posterior cervical C2-C3 laminectomies and tumor resection was attempted by neurosurgery. However, full resection of the mass was not achieved after significant loss of motor signals was evoked. As a result, the patient only received posterior decompression at this level. The patient's postoperative course was uneventful and the patient was discharged with plan to attend occupational and physical rehabilitation. On pathology, gross section demonstrated fragments of tissue ranging from 0.1 to 0.4 cm. Microscopy revealed tightly packed small blue cells with greatly increased nuclear to cytoplasmic ratios and some areas of cartilage. Pathology was sent to an outside institution for further evaluation. It was determined to show biphasic pattern with densely cellular regions of small anaplastic cells and other areas of chondroid differentiation, consistent with diagnosis of mesenchymal chondrosarcoma  of cervical spine was performed at an outside institution for radiotherapy planning Figures . Most cuMesenchymal chondrosarcoma (MCS) is a rare malignant tumor that is classified as chondrosarcoma due to its focal appearance of cartilage with alternating undifferentiated stroma. The first two examples of MCS were described by Lichtenstein and Bernstein in 1959 . MesenchGiven the extraosseous presentation of our case, MCS was not initially suggested. Extraskeletal MCS is exceedingly rare, representing about 0.33% of all chondrosarcomas . ChondroMRI is the preferred imaging modality for intraspinal tumors, but there is no pathognomonic description for extraosseous MCS. Chondrosarcomas share similar findings with chordomas, making the differential diagnosis challenging . On imagDue to the rarity of the disease, no universal management protocol has been established. Total resection with wide margins is typically suggested and surgery has shown to be essential for a positive outcome. Adjunctive chemotherapy and/or radiotherapy may be considered; however, little evidence for their utility has been demonstrated so far. Careful, long-term follow-up and monitoring should last at least 10 years due to the tendency toward recurrence and metastasis in >70% of cases , 18.Our case demonstrated an unusual and rare extraskeletal location of mesenchymal chondrosarcoma: extramedullary, intradural within the cervical spine. We suggest the importance of considering the diagnosis of mesenchymal chondrosarcoma when aforementioned diagnostic imaging features are witnessed.


Pigmented paravenous retinochoroidal atrophy (PPRCA) is an unusual retinal degeneration, and its performance on optical coherence tomography angiography (OCTA) is unclear. We report a Chinese female case of PPRCA and her OCTA features.A 66-year-old female patient was referred to the author’s center for gradual progressive loss of vision in both eyes and photophobia of 2 years duration. She reported having no family history of inherited ocular diseases. The funduscopic examination revealed bone-spicule pigmentation and retinochoroidal atrophy along the retinal veins. This patient was diagnosed with PPRCA which is a rare disease, uncommon in females, more commonly affecting the paravascular fundus. Noninvasive imaging techniques features of this patient was described, including ultra-wide field fundus autofluorescence, spectral domain optical coherence tomography (SD-OCT), OCTA (SSADA), etc. The en face OCTA images demonstrated areas of flow void beneath the retinal pigment epithelium-Bruch membrane layer suggestive of choriocapillaris hypoperfusion that corresponded with indocyanine green angiography (ICGA). Further studies should be conducted to clarify the relationship between choriocapillaris hypoperfusion and the development of PPRCA.The OCTA features in patients with PPRCA has not been described previously in the literature. This case might provide preliminary information regarding the pathophysiology of PPRCA and improve our understanding of the nature of this disease. Pigmented paravenous retinochoroidal atrophy (PPRCA) is an unusual retinal degeneration characterized by perivenous aggregations of pigment clumps associated with peripapillary and radial zones of retinochoroidal atrophy that are distributed along the retinal veins . PatientA 66-year-old female patient was referred to the authors’ center for gradual progressive loss of vision in both eyes and photophobia of 2 years duration. She reported having no family history of inherited ocular diseases, no history of trauma, no history of inflammation or infectious diseases. Her best corrected visual acuity (BCVA) was 65 ETDRS letters  in the right eye and 61 ETDRS letters  in the left eye. The anterior segment was unremarkable in both eyes. No relative afferent pupillary defect was found. The intraocular pressure was normal. Funduscopic examination after pupillary dilation found bone-spicule pigmentation and retinochoroidal atrophy along the retinal veins, bilaterally, without macular involvement or signs of inflammation.Ultra-wide field fundus autofluorescence imaging revealed demarcated hypoautofluorescent areas corresponding to the atrophic patches in the peripheral paravenous distribution, surrounded by a relatively hyperautofluorescent band Fig. . SpectraPPRCA is a rare ocular disease with unknown etiology and slow progression. For this patient, the cause of the disease still remains unclear. Although the diagnosis of PPRCA is based on typical fundus appearance, the findings of fundus autofluorescence, FA, ICGA, and ERG can help us to confirm the diagnosis.In this case, OCTA is applied to analyze the vascular structures of the retina and the choroid to reveal subtle abnormalities. OCTA is a novel imaging technique that provides noninvasive angiographic maps of the retinal and choroidal vasculature. The technique of OCTA is based on split-spectrum amplitude-decorrelation angiography that is able to detect endoluminal flow and reconstruct the retinochoroidal microvascular network . OCTA imIn summary, we reported a Chinese female case of PPRCA and the multimodal imaging of this patient. To the best of our knowledge, this is the first case to report the OCTA features of a PPRCA patient.


Left ventricular myxoma is a rare benign cardiac neoplasm. Surgical excision is the treatment of choice, and complete removal is mandatory to prevent late recurrence.Here, we report a case of myxoma originating from the anterolateral wall of the left ventricle with a very short stalk. Accordingly, the transaortic and transmitral approaches were considered inadequate; therefore, a transventricular approach was adopted. To minimize the incidence of complications associated with a left ventriculotomy, its length was designed to be as short as possible. To plan a proper ventriculotomy, measurements were taken by the combined use of transesophageal echocardiography and epicardial direct echocardiography.This method provided a good guide without being a complicated technique. The tumor and its attachment were clearly visualized and completely resected in an en bloc fashion. No recurrence has occurred to date. Myxomas, the most common cardiac neoplasms, are usually detected in the left atrium. Left ventricular myxomas account for only a small percentage of cardiac myxomas . To prevA 66-year-old man was referred to our hospital with the diagnosis of a left ventricular mass detected incidentally during transthoracic echocardiography that was performed prior to a cholecystectomy. He had no cardiac symptoms or history of embolism. On physical examination, he had normal heart sounds without any cardiac murmurs. The results on chest radiography, electrocardiography, and blood examinations were normal. Transthoracic echocardiography revealed a mobile mass, 16 mm in diameter, originating from the anterolateral wall of the left ventricle. Its stalk was short, and the tumor was directly attached to the ventricular wall. The diameter of the left ventricle was 52 mm in the diastolic phase and 30 mm in the systolic phase. The ejection fraction (EF) of the left ventricle was estimated as 80 %. Computed tomography showed a homogeneous 20-mm-diameter tumor that originated from the anterolateral wall of the left ventricle with an extremely short stalk.Under general anesthesia, the heart was exposed through a median thoracotomy. The pericardium was retracted by Lima suture . The tumOn a subsequent histopathological examination, typical features of myxoma were demonstrated, a good surgical margin >5 mm was achieved, and there was no evidence of invasion in the cross-section of the resected myocardium. The ventriculotomy was closed by four mattress sutures and a running 4-0 polyvinylidenefluoride suture  with underlying Teflon felt strips . The postoperative course was uneventful, and no evidence of recurrence or arrhythmia has been seen in the 24 months since the operation. Postoperative cardiac function was estimated by echocardiography prior to discharge from the hospital and at 6 months after the operation. The diastolic and systolic diameters of the left ventricle were 50 and 26 mm, respectively, at discharge, and 51 and 30 mm, respectively, at 6 months after the surgery. The EF of the left ventricle at discharge and 6 months after the surgery was 85 and 75 %, respectively.Primary cardiac tumors are rare. Nearly 75 % are benign, and most of these benign heart tumors are myxomas. Approximately 75 % of cardiac myxomas originate from the left atrium; only 3–4 % are found in the left ventricle . MyxomasGreco et al. reported an approach combined with video-assisted cardioscopy for myxoma at the apex region . For subIn our patient, the approach route was planned preoperatively. Because the tumor was located on the anterolateral wall of the left ventricle and had a short and wide stalk and the diameter of the aortic annulus (estimated as 21 mm) was relatively small, we concluded that the transaortic and transmitral approaches were inadequate. We estimated that the transaortic view via a relatively small aortic annulus might be insufficient to achieve complete resection. We also examined the transmitral approaches including superior septal and Dubost incision. We concluded that a competent surgical field except beyond the tumor might be provided by these approaches. The incidence of incomplete surgical margin at the apical edge might be considered. Since our highest priority should be to achieve complete tumor resection, we decided to select a transventricular approach. To minimize the incidence of complications associated with a left ventriculotomy, the length of the ventriculotomy was designed to be as short as possible. A proper ventriculotomy was planned according to measurement by the combined use of TEE  from theHere, we described a rare case of cardiac myxoma originating from the left ventricular free wall and presented our simple technique for planning the surgical approach using intraoperative echo guidance.Written informed consent was obtained from the patient for publication of this case report and any accompanying images.


Fibroma is a benign tumor of oral cavity, with usually the tongue, gingiva, and buccal mucosa being the most common sites. Females are twice more likely to develop fibroma than males. The intraoral fibroma typically is well demarcated; and its size can vary from millimeter to few centimeters. Intraorally the growth is attached to the mucosa by means of a peduncle. Fibroma is generally slow growing, painless, smooth surface lesion and the color is slightly paler than the adjacent healthy tissue. Treatment usually requires total excision and recurrence is rare. Here we present a case of 37-year-old female patient reported to the Department of Oral Medicine and Radiology with the chief complaint of a growth in the lower left posterior teeth region 3 months earlier. Intraoral localized reactive lesions occurring on the gingiva are common which include irritation/traumatic fibroma, peripheral ossifying fibroma, focal fibrous hyperplasia, pyogenic granuloma, inflammatory hyperplasia, and peripheral giant cell granuloma . IrritatA 37-year-old female patient was reported to the Department of Oral Medicine and Radiology with the chief complaint of a growth in the lower left posterior teeth region 3 months earlier. She was apparently alright 3 months back when she experienced food lodgment and pain in the area of chief complaint when she was using tooth pick to remove the lodged food particles. She noticed sometimes bleeding after using toothpick. After few days she noticed a small pea sized growth in the region. The growth progressively increased to present size with no history of pain bleeding and paresthesia. She gives exfoliation of one tooth during the period of enlargement of the growth. The medical history was not contributory.Intraoral clinical examination revealed a well-defined, exophytic, multilobulated growth over the mandibular alveolar ridge in region of lower left first molar, measuring approximately 5 cm × 4 cm × 3 cm in size, extending mesiodistally from mesial surface left lower canine up to the distal surface of lower left second molar. Surface of the lesion was smooth, shiny, and with normal color of oral mucosa Figures  and 2. SOrthopantomograph was obtained. The radiographic examination shows the missing left lower first molar, mesially displaced, and floating tooth appearance with lower left first and second premolars. There is generalized bone loss in interdental region suggestive of generalized moderate periodontitis. No radiographic abnormality was detected in the bone related to the region associated with the lesion .Routine hematological examinations including hemogram, blood sugar level, HBsAg, and HIV screening tests were found to be within normal physiological limits. The histopathological report of incisional biopsy  shows coThe differential diagnosis consisted of pyogenic granuloma, periapical giant cell granuloma, aggressive gingival fibromatoses, odontogenic myxoma, periapical odontogenic fibroma, and giant cell fibroma. These outcomes were discussed with the patient in an attempt to alleviate fear of carcinoma. Thus, a final diagnosis was considered as an irritation fibroma.The lower first and second molars were extracted. Total surgical excision of the lesion under local anesthesia and aseptic conditions was done. It was followed up after 8 days showing healing at surgical site of excision .Inflammatory hyperplasia is different from irritation fibroma that histologically represents inflamed fibrous tissue along with granulation tissue , 7. ReacApproximately 60% of irritation fibromas occur in the maxilla and they are found more often in the anterior region, with 55–60% presenting in the incisor-cuspid region, rare in posterior region , but in Histopathologically, irritation fibroma can appear as an intact or ulcerated stratified squamous epithelium along with shortening and flattening of rete pegs. Treatment of irritation fibroma consists of elimination of etiological factors, scaling of adjacent teeth, and total aggressive surgical excision along with involved periodontal ligament and periosteum to minimize the possibility of recurrence. Any identifiable irritant such as an ill-fitting dental appliance and rough restoration should be removed . Long-te


The primary carcinoma of fallopian tube is a rare entity. It represents 0.14 to 1.81% of genital cancers in women. It is a cancer of older women. Its association with tuberculosis is exceptional. We report a rare case of bilateral serous adenocarcinoma of the fallopian tube in a patient aged 42 years, multiparous, whose characteristic is the unexpected association with peritoneal tuberculosis. The primary fallopian tube carcinoma is rare, it occurs in older women. Its association with tuberculosis is exceptional. We report here a rare case of bilateral fallopian adenocarcinoma, in association with unexpected nodal tuberculosis.2 and Adriablastin at a dose of 60mg/ m². The patient was received four cycles of chemotherapy spaced 21 days apart. The patient was followed in consultation and assessment to the response to the treatment was based in clinical, biological (determination of CA -125) and CT scan. The patient was lost after the fourth cure of chemotherapy.A fourty two year old multiparous lady presented with pelvic pain four months before admission, radiating to the lumbar region without menstrual disorders without gastrointestinal symptoms or urinary symptoms. The clinical examination confirmed intraperitoneal effusion syndrome and found a pelvic mass located in the left side, mobilized from the uterus whose diameters are difficult to assess. The uterus is of normal size. Pelvic ultrasound showed an uterus of normal size with The presence an image located in the left side of the uterus, heterogeneous, large four centimetres of biggest diameter, a thick walled, taking the Doppler color at its periphery. The ovaries were not visualized . The magThe primary cancer of fallopian tube is 0.14 to 1.81 % of all neoplasm of the femal genitalia , it occuDuring the last decade, transvaginal pelvic ultrasound was able to make the diagnosis of processes of the fallopian tube in some cases. The pelvic scan and MRI, in addition to their interest in the diagnosis of tubal masses, they are recommended for the locoregional supervision under treatement, in association with tumor markers and CA125 . The diaPrimary carcinoma of the fallopian tube is a rare entity especially in young women. The preoperative diagnosis is difficult to establish. Its association with tuberculosis is even rarer and poses the problem of antibiotic treatment that must be started before chemotherapy.Tha authors declare no competing interests.


Ischemic fasciitis is a distinctive pseudosarcomatous entity with a marked predilection for elderly and physically debilitated or immobilized patients. The etiology of these lesions is unknown but felt to be related to ischemic vascular events.Herein, we report for the first time, two cytogenetic translocations, t and t in a 75 year-old ambulating female with a history of left total hip arthroplasty 20 years ago.These translocations suggest a possible clonal pathogenetic link though their significance remains to be established. Ischemic fasciitis, also known as atypical decubital fibroplasia, is a pseudosarcomatous entity that is known to typically occur in elderly patients and patients who have had a long standing history of debility , 2. HoweA 75-year-old female was referred from an outside institution for evaluation of a suspected soft tissue tumor. She first noticed a painless soft tissue mass on her left hip approximately 6 weeks prior to presentation. She denied having pain in the identified area without a change in size and firmness of the mass. Her past surgical history is significant for a left total hip arthroplasty 20 years ago, which hadn’t required any revision surgeries. She denied any pain with ambulation, activities of daily living, and work. Magnetic resonance imaging (MRI) of the left hip showed an ovoid signal abnormality within the subcutaneous fat with a heterogenous enhancement of this structure Fig. . A fine Grossly, the excision specimen consisted of a 5.8 × 2.7 × 2.4 cm densely fibrotic tan-white poorly – circumscribed mass. The cut surfaces showed an orange and red slightly marbled surface with hemorrhage accounting for approximately 10 %. Noteworthy, were finger-like fibrotic extensions to the deep margin where the mass possibly involved the fascial plane. Microscopically, the findings were considered prototypic for ischemic fasciitis, consisting of a distinct zonal pattern observed at low power with fibrinoid matrix deposition surrounded by an area composed of reactive/atypical appearing fibroblasts and granulation tissue. Some of the atypical fibroblastic/myofibroblastic cells had a ganglion cell-like appearance akin to those described in proliferative fasciitis. There were also focal areas showing myxoid alteration, giant cell reaction, and extravasation of red blood cells Fig. .Fig. 2a . Hypotonic was 0.075 M KCL  for 20 min at 37 °C, and fixation was with 3:1 methanol:acetic acid. The cells were G-banded using trypsin (Gibco Invitrogen), and stained with Wright stain  according to standard laboratory procedures. All metaphases were completely analyzed. Karyotypes were described according to the ISCN 2013 standard /46,idem,t[2]/46,XX[12]/nonclonal[3]  in proliferative fasciitis and myositis respectively suggests a putative clonal neoplastic origin rather than reactive process [CDH11) promoter region on 16q22 in juxtaposition with ubiquitin-specific protease (USP6) on 17p13, implicating a novel oncogenic driver in the pathogenesis of ABC [To our knowledge this is the first case of cytogenetic aberrations reported in a case of ischemic fasciitis. In our case, the cytogenetic analysis was done on a previously untreated ischemic fasciitis and demonstrated a novel chromosomal translocation between chromosomes 1 and 2, and a translocation between chromosome 7 and 19. Similar to other pseudosarcomatous lesions, entities such as nodular fasciitis, proliferative fasciitis and myositis have long been held to represent reactive processes rather than neoplastic. However, the discovery of  process . Further process  .This trs of ABC . ImportaSERPINE1 and FOSB genes has been demonstrated as the sole molecular genetic abnormality in PHE [In our case, 25% of the cells had cytogenetic abnormality and all the cells with clonal chromosomal aberration were found on the coverslips, suggesting that this is intrinsic to the tumor and thus the possibility this is a cultural artifact is very unlikely. Secondly, the cytogenetic abnormalities were present in different coverslips. Importantly, all 5 abnormal cells had t while 2 cells had t. Interestingly, we note the existence of two unrelated chromosomal abnormalities within the same tumor. This is a rather uncommon phenomenon but we believe that this may represent acquired changes secondary to ischemic damage to the fibroblasts. Similarly, there is an on-going debate that the trisomy 2 in proliferative fasciitis is only an age-related change rather than a bona-fide clonal event in proliferative fasciitis. Whether this is a similar phenomenon remains to be established. Previously, anomalies involving chromosome 7 and 19 although with different breakpoints; t have been described in a case of pseudomyogenic hemangioendothelioma (PHE) . PHE is y in PHE .At present, the knowledge about the significance and implications of these cytogenetic aberrations associated with ischemic fasciitis are not known. This is the first case to the best of our knowledge that describes these unique translocations. This potentially raises a very important question as to whether this is fundamentally a clonal neoplastic process or a reactive ischemic process characterized by vascular compromise. The relative rarity of this lesion itself, coupled with the occurrence of this cytogenetic abnormality makes it difficult to ascertain the significance of these findings.In conclusion, we present for the first time, a novel case of clonal chromosomal translocations between chromosomes 1 and 2, and translocation between chromosomes 7 and 19; t and t, respectively occurring in ischemic fasciitis of the lower extremity. The significance of these clonal cytogenetic translocations remains to be unravelled.


Ewing's sarcoma is a primary bone cancer that mainly affects the long bones. This malignancy is particularly common in pediatric patients. Primary cranial involvement accounts for 1% of cases, with occipital involvement considered extremely rare. In this case study, primary occipital Ewing's sarcoma with a posterior fossa mass and subsequent relapse resulting in spinal seeding is reported. A 3-year-old patient presented with a 1-year history of left-sided headaches, localized over the occipital bone with progressive torticollis. Computed tomography (CT) imaging showed a mass in the left posterior fossa compressing the brainstem. The patient then underwent surgical excision followed by adjuvant chemoradiation therapy. Two years later, the patient presented with severe lower back pain and urinary incontinence. Whole-spine magnetic resonance imaging (MRI) showed cerebrospinal fluid (CSF) seeding from the L5 to the S4 vertebrae. Primary cranial Ewing's sarcoma is considered in the differential diagnosis of children with extra-axial posterior fossa mass associated with destructive permeative bone lesions. Although primary cranial Ewing's sarcoma typically has good prognosis, our patient developed metastasis in the lower spine. Therefore, with CNS Ewing's sarcoma, screening of the entire neural axis should be taken into consideration for early detection of CSF seeding metastasis in order to decrease the associated morbidity and mortality. Ewing's sarcoma is considered the second most common pediatric primary bone tumor, affecting mainly the long bones and pelvis. Primary cranial involvement accounts for approximately 1% of Ewing's sarcoma cases, with a primary occipital bone tumor being considered very rare . MetastaA 3-year-old male presented with a left-sided headache localized over the occipital bone, with progressive torticollis over the last year, as well as vomiting and ataxia over the last week. Examination of the patient was unremarkable with the exception of bilateral lower limb weakness. Computed tomography (CT) without contrast showed a large lobulated heterogeneous hyperdense lesion in the left posterior fossa. The lesion exerted a mass effect compressing the 4th ventricle and brainstem structures, with supratentorial triventricular hydrocephalus  accompanMagnetic resonance imaging (MRI) of the brain showed evidence of an infratentorial posterior fossa extra-axial mass that appeared to be dural. There was invasion of the marrow space of the left occipital bone . In addiDue to the primary malignancy, there was a significant mass effect over the left cerebellar hemisphere. The plane of cleavage between the tumor and the cerebellum was lost, indicating invasion. Furthermore, the tumor was noted to protrude through the foramen magnum, causing compression and displacement over the brainstem, especially over the upper medulla. Additional diagnostic testing with blood and imaging were found to be normal. The patient's tumor had destroyed the involved occipital bone, with minimal invasion of the dura and obvious calcification.3, grey color, irregular, firm consistency, without obvious necrosis or hemorrhage, and confirmed cerebellar invasion. From histopathology, the tumor sheets showed a compactly arranged round cell tumor with cells having clear cytoplasm. Small spicules of bone were also seen in the tumor tissue, suggestive of occipital bone destruction. It was noted that the cells were large with irregular nuclear membranes and prominent nucleoli. The pleomorphic cells with few pseudorosettes were positive for EWS-FLI1 translocation in 98% of the cells. On immunohistochemistry, cells were immunoreactive for surface antigen CD99/MIC2 and positive for neuron-specific enolase and Leu 7.The patient underwent a left parietooccipital craniotomy for tumor resection, with samples collected for histopathological evaluation. The gross specimen had a size of 5 × 4 × 2 cmPostoperative CT confirmed total tumor resection. The patient then received adjuvant chemotherapy with focal radiation. The patient was given vincristine, doxorubicin, and cyclophosphamide followed by ifosfamide and etoposide plus radiation to the left cerebellopontine angle. After three cycles of chemotherapy, a subsequent MRI showed marginal response. The patient was then switched to another chemotherapy regimen consisting of vincristine, temozolomide, and irinotecan. The patient was lost to follow-up examination for eight-month duration after confirmation of remission. The patient then presented with severe constant lower back pain and urinary incontinence during the day. A whole-spine MRI showed intraspinal enhancing lesions representing cerebrospinal fluid (CSF) seeding, extending from the level L5-S4 . PalliatPrimary Ewing's sarcoma affecting the cranial bones accounts for about 1–9% of cases , 6. MostRadiologically, Ewing's sarcoma shows bone destruction in a permeative pattern that may be accompanied with large soft tissue involvement, indicative of a highly aggressive tumor. Tumors involving the skull with adjacent soft tissue have a comprehensive differential diagnoses, which includes metastatic tumors such as neuroblastoma, lymphoma, and rhabdomyosarcoma and primary tumors such as meningiosarcoma and sarcomatous malignant lesions. Radiologically, neuroblastomas usually have hair-on-end periosteal appearance, osteolytic lesions, and separation of sutures . SecondaOur patient's imaging studies showed an extra-axial durally based left posterior fossa mass with CSF cleft eroding the inner skull table and involved intradiploic space with intralesional-dense calcifications and vivid intensity enhancement. The absent plane of cleavage between the medial border of the mass and the adjacent cerebellar tissue was highly indicative of invasion, which was eventually confirmed surgically. These findings explain the patient's clinical presentation.The histopathology report revealed that the patient had a round cell tumor, which was positive for Ewing's sarcoma, EWS-FLI1 fusion gene, and membranous expression of CD99 and S-100 proteins. Round cell tumors can involve a variety of differentials including primitive neuroectodermal tumors such as neuroblastoma and Ewing's sarcoma, as well as other tumors such as lymphoma and rhabdomyosarcoma . The EWSEwing's sarcoma is treated with a multidisciplinary approach that includes surgery, chemotherapy, and radiotherapy. The patient underwent a gross total surgical resection of the tumor. Three cycles of adjuvant chemotherapy consisting of vincristine, doxorubicin, and cyclophosphamide, followed by ifosfamide and etoposide, were administered along with local radiotherapy. Owing to marginal tumor control, the regimen was switched to vincristine, temozolomide, and irinotecan. Postoperative imaging indicated remission. There was an eight-month period of loss of follow-up where the patient presented with severe constant lower back pain and urinary incontinence. Spinal MRI revealed intraspinal enhancing lesions extending from the L5-S4 vertebrae, and the patient was managed with palliative chemoradiation. The patient remained stable with Eastern Cooperative Oncology Group (ECOG) performance status of 3.Female gender, the absence of systemic symptoms and metastasis at diagnosis, long duration of symptoms (more than six months), and peripheral tumor location are indicators of favorable prognosis . DespitePrimary cranial Ewing's sarcoma should be considered in the differential diagnosis of pediatric extra-axial durally based posterior fossa masses, particularly when associated with involvement of the adjacent bone. To improve prognosis, Ewing's sarcoma of the CNS should have screening of the entire neural axis for early detection of CSF seeding metastasis.


Operating on more than a single procedure in a same surgical intervention saves time, anesthesia duration and can increase the overall quality of life by lowering the duration of hospital stay and minimizing patient anxiety. But such interventions require expertise, high surgical performance, and precision in anatomical manipulation. We present a case of an outstanding performance of a unique minimally invasive simultaneous approach of removing a pre-pyloric gastrointestinal stromal tumor (GIST) along with a cholecystectomy by a robot-assisted laparascopic surgical system.So far, only 33 cases of GIST have been reported in literature that were managed by robot-assistance, and this case is the first of its kind. This is the case of a 60-year-old overweight female who presented for a follow-up for chest discomfort, shortness of breath, chronic gastric reflux and classical features of cholecystitis along with diarrheal and constipation episodes. A gastroduodenoscopy showed a mass in the pre-pyloric area that extended in the luminal cavity. A robot-assisted laparascopic approach was planned, and with precision and surgical expertise the mass was removed along with a cholecystectomy. The surgical specimen were confirmed on histopathology. Gastrointestinal stromal tumor is a kind of smooth muscle cancer that is a mutation in the cells of Cajal. Theoretically, it can arise from anywhere in the gastrointestinal tract, although there are some major sites known. This tumor can present with many gastrointestinal (GI) symptoms, including GI bleeding, nausea, and pain. The tumor is diagnosed by histopathology, once the mass is removed and confirmed by immunoblotting. If not managed, the prognosis has been known to be poor and follow-up is mandatory to rule out possibilities of metastasis or recurrence. For removing this mass, an immense surgical precision is required.We present a case of robot-assisted laparascopic approach for excising the tumor in a female patient and simultaneously removing the gall bladder as well. This case depicts the state-of-the-art surgical expertise and procedural success in surgical sciences.A 60-year-old female patient presented in the clinic for a follow-up for chest discomfort, which was progressively increasing with shortness of breath and a chronic gastric reflux. Her vitals were within normal limits : 117/86, respiratory rate (RR): 20) and she had a body mass index (BMI) of 29.52 kg/m2 (overweight category). The patient had a massive right upper quadrant (RUQ) pain with classical signs of tenderness, two episodes of vomiting, and a pain that radiated to the right scapula. Her past medical history included multiple episodes of gastric regurgitation with previous cardiovascular intervention for coronary stenting. The patient had a history of diarrheal and constipation episodes for which she had been under treatment with a gastroenterologist. Her gastrointestinal upset was relieved after a four-month long medical treatment along with changes in eating habits. The family history was non-significant. There were no known allergies. The patient reported consuming red wine occasionally and was a recreational smoker.A routine abdominal ultrasound was done for the cholecystitis, which came positive for gallstones. Considering chronic reflux and chest discomfort with normal troponin and creatine kinase-MB (CK-MB) levels, a gastroduodenoscopy was done to evaluate the possibility of changes in the esophageal epithelium and the angle of His in the cardiac end of the stomach. On visualizing, the epithelium was apparently normal, with normal stomach rugae, color, and texture, and with the absence of a major ulceration. In the distal end of the stomach a mass-like lesion was found in the pre-pylorus that extended in the luminal cavity. The mass was approximately 5-6 cm in length and 7-8 cm in width. It was initially considered that the biopsy of the mass is not a favored procedure, as the extent of blood flow through it was unknown. The patient was informed about the various differentials of the lesion and a robot-assisted laparoscopic intervention was suggested and also a cholecystectomy for the known cholecystitis symptoms.The surgical intervention was scheduled on a da Vinci Surgical Robot System . Keeping in mind the overweight nature of the patient, appropriate trocars and more accessible port sites were selected. A 5 mm incision was made on the left side of the abdomen and safe intraabdominal access was obtained via opti-view trocar, followed by its replacement with an 8 mm robotic trocar  . Pneumoperitoneum of 15 mmhg was achieved and then three more robotic trocars were planned including a robotic 8 mm camera trocar supraumbilical and two more 8 mm trocars in RUQ  was fired three times in vertical axis to prevent stenosis, and wedge resection of the GIST tumor was successfully performed Figures -5. The sUsing the same trocars and instruments, the liver was retracted and the Calot's triangle was identified Figure . After aThe gallbladder was dissected off its fossa in liver and then retrieved using an Endo Catch bag. The step-by-step intra operative procedure was filmed for academic reference for understanding the simultaneous procedures Video . An esopA literature review was done to evaluate similar cases operated and to compare our prognosis. We found no case of simultaneous excision of GIST and gallbladder by robot-assisted technique or by conventional laparoscopy; although, a total of 33 cases of GIST were managed by robot-assisted technique. There is no similar surgery reported before. It was a cutting-edge approach done with accuracy and precision of the surgical tools used in the robot. Such surgeries can be operated simultaneously with safety. Gastrointestinal stromal tumors (GIST) arise in the smooth muscle pacemaker interstitial cells of Cajal and are usually driven by a mutation in the c-KIT gene CD 117) that can be observed on immunoblotting. Generally, the tumor presents with GI symptoms that can involve abdominal pain, gastrointestinal bleeding, and trouble swallowing 17 that c. ExcisioRobot-assisted surgeries have gained enormous acceptance among surgeons by providing highly magnified three-dimensional imagery that improves hand-eye coordination in real-time. These advanced systems are being used for a number of reconstructive procedures because of their advantages in the range of motion scaling, an extensive optical magnification tool, multidimensional stereoscopic visualization, and an excellent instrument dexterity with tremor filtration that allows delicate motions in small areas in a procedure that would otherwise require advanced laparoscopic expertise -5. This A study from Italy showed that there were cases of minimal bleeding that were not readily managed in a robotic setting, which contributed to the morbidity, although no fatalities were recorded. It was highlighted that at least 10 solo procedures under the observation of a robotic fellow can shift the learning curve to master it. Still, the huge diameters of the instruments, the limited number of robotic arms, and yet lesser popular academic training are some of the major technical shortcomings of this expensive tool. Further data and evaluation are required for the acceptance of the technology among general surgeons . Our casIn the past few decades, minimally invasive procedures have reshaped the surgical specialty to an extent that it is difficult for surgeons to come at par with the rapidly expanding nature of technology. But the survival of a surgeon is dependent on learning, adapting, and implementing the expertise in the nature of the current advanced era. In our case report, it becomes evident that treatment for a tumor that was excisable on an open laparotomy with series of post-surgical treatments is totally replaced by a robot-assisted approach and high precision, which is unlikely to be found on a general laparoscopic surgery. The da Vinci Surgical Robot System with its counterparts Al-Khwarzami Surgical System, Zeus Robot, and the most advanced SRI International Robotic Surgeon are evidence of the tremendous efforts of human research, state-of-the-art engineering structure, and a dedication toward dealing with every kind of disease with precision and accuracy. Robotic surgery is tomorrow.Robotic-laparascopic approach is a great surgical innovation for obese patients and can assist in manipulating multiple procedures with more precision and accuracy. It is important to note that basic symptoms should not be considered less important as they can be helpful in directing early diagnosis of fatal disease that can assist in prompt treatment. Also, the mass was not biopsied endoscopically, which is a preferred strategy if the extent of the blood flow is not known. Overall, the case helps us understand that GIST may present with very basic enteric symptoms and it requires expertise to approach a certain diagnosis and apply the right tools for patient care.


A cortical lesion of the tibial diaphysis in a young patient poses a diagnostic challenge to the clinician. Brown tumors, although not very common, may mimic malignancies on radiographs. Brown tumors are destructive lytic lesions of the bone due to increased osteoclastic activity and fibroblastic proliferation in patients with uncontrolled hyperparathyroidism (HPT). They occur after primary or secondary HPT due to renal failure but very rarely due to vitamin D deficiency. We report a rare case of a brown tumor of tibial diaphyses in a young female patient mimicking a locally aggressive tumor with secondary HPT due to a severe vitamin D deficiency. The effect of hyperparathyroidism on bone metabolism is clinically worse in the presence of vitamin D deficiency and, hence, it predisposes patients to brown tumors that can affect any bone in the body. They can be managed conservatively but may require prophylactic fixation in particular cases. Brown tumors are focal destructive lesions of the bone caused by increased osteoclastic activity and fibroblastic proliferation in patients with uncontrolled hyperparathyroidism (HPT). They occur after primary or secondary HPT due to renal failure but very rarely due to vitamin D deficiency . The incA 25-years-old breastfeeding patient, after nine months of delivery, presented with right leg pain associated with difficulty in walking for the past one month. She had tenderness over the posteromedial aspect of the right distal third leg. Plain radiographs showed a geographical lytic lesion in the diaphysis of the distal one-third of the tibia with complete erosion of the posteromedial cortex Figure .Her blood parameters were deranged as shown in the table below Table . Her vitBased on the history, clinical examination, and laboratory tests, the final diagnosis of brown tumor was made secondary to severe Vitamin D deficiency induced secondary HPT. The differential diagnosis of the cortical diaphyseal lesion of the tibia is described in the table below Table .The patient was treated with vitamin D supplementation, and the leg was immobilized in a below knee cast for two months. Gradually, the tumor regressed. The patient reported clinical improvement, and the biochemical markers came to normal values after three months. Her follow-up radiograph also showed remarkable improvement Figure .A cortical lesion of the tibial diaphysis in a young patient poses a diagnostic challenge to the clinician.The parathyroid glands play a major role in maintaining extracellular calcium concentrations through the secretion of PTH. Excessive PTH causes the rapid absorption of calcium from the bones, with resultant hypercalcemia in the extracellular fluid. PTH activates osteoblasts and osteocytes, which in turn send signals to osteoclasts, causing them to eat up the bone in an accelerated manner. Osteoclastic resorption of the bone results in weakened bones after a few months of excess PTH. There is secondary stimulation of the osteoblasts that attempt to correct the weak state. In this stage, there is more bone absorption than bone deposition in the presence of continued excess PTH. Prolonged secretion of PTH over a period of many months or years results in very visible absorption in all the bones and the development of large cavities filled with giant multinucleate osteoclasts. The large cavities act as stress risers predisposing the affected bone to pathological fractures. Vitamin D promotes bone calcification by increasing calcium and phosphate absorption from the intestines. Vitamin D, by an unknown mechanism, also causes the transport of calcium ions through cell membranes, but in this instance, in the opposite direction to the osteoblastic or osteoclastic cell membrane. Therefore, the effect of hyperparathyroidism on bone metabolism is clinically worse in the presence of vitamin D deficiency and hence predisposes patients to brown tumors that can affect any bone in the body.The main effects of PTH are to increase the level of plasma calcium by increasing the release of calcium and phosphate from the bone matrix, increasing calcium reabsorption by the kidneys, and increasing renal production of 1,25-dihydroxy vitamin D3 , which in turn increases intestinal absorption of calcium. Primary hyperparathyroidism is a well-recognized entity identified almost more than a century ago by Von Recklinghausen. In the USA, the annual incidence is about 0.2% in patients above the age of 60 years. This condition is more common in females than in males, with the peak incidence between 30 to 50 years. The incidence increases with age, though a 14-year-old patient has been reported in the literature.The discussion points, therefore, include the role of Vitamin D supplementation, the role of partial parathyroidectomy, and the role of prophylactic internal fixation of the tibia as the most relevant treatment options.Calcium and vitamin D supplementation have been found very useful in the treatment of brown tumors of the spine following spine decompression for collapsed vertebrae. Though surgical options are helpful in the treatment of pressure symptoms associated with a brown tumor, the pharmacological option still plays an additive role in the management of brown tumors. Surgical removal of three of the four normal parathyroid glands causes transient hypoparathyroidism. A few studies have reported improvements in clinical outcomes among patients with brown tumor treated with parathyroidectomy. The return of serum biochemistry to normal, increase of bone density, and fracture union following excision of parathyroid adenoma have been reported. The prophylactic internal fixation for large bone lesions should be done to prevent spontaneous fracture . SignifiBrown tumors may mimic malignancies on radiographs. Lesions in the diaphysis of the tibia are rare and pose a diagnostic challenge to the clinician. Brown tumor should be considered as one of the differential diagnosis in tibial diaphyses lesions. It can present as a locally aggressive tumor in a patient with secondary HPT due to a severe vitamin D deficiency. Medical management is sufficient in most of the cases; however, prophylactic surgical fixation may be required in selected cases.


A giant pseudocyst is a rare complication after hernioplasty and is seldom seen. The pathophysiology is unclear; it characteristically does not contain epithelial lining and can be considered giant if the diameter exceeds 10 cm. Pseudocysts are mostly described after incisional hernia repairs and are usually treated with surgical resection. We report a case of a giant pseudocyst three years after totally extra peritoneal inguinal hernia repair. Laparoscopic fenestration without removing the pseudocyst with or without removal of the polypropylene mesh is a safe and effective minimal invasive approach to the treatment of a symptomatic pseudocyst and should also be considered in the approach of other large symptomatic cysts. A 63-year-old healthy male patient underwent a laparoscopic bilateral totally extra peritoneal inguinal hernia repair with two polypropylene meshes in 2010. His medical history reveals no use of any medication, nor diabetes, cardiopulmonary, or other diseases. He had stopped smoking 20 years ago and has a normal body mass index. The surgery went well and according to Dutch practice no tacks were placed. His postoperative recovery was uncomplicated; there were no signs of seroma, hematoma, or recurrence. After almost three years, the patient returned with complaints of swelling in the left inguinal area and lower urinary tract symptoms. The urinary problems were initially successfully treated with an alpha-1-antagonist. Ultrasound and computer tomography (CT) showed a cyst-like fluid collection, approximately 6 cm in diameter. Ultrasound guided aspiration of the cyst was performed due to progressive complaints of restriction of abdominal movement. The cysts' content was a clear serous liquid. Due to persisting urinary problems, a cystoscopy was performed three months later. It showed an abnormal indentation on the ventral side of the bladder, indicative of external bladder compression. CT showed a giant fluid collection of almost 16 centimeters in diameter ventrally of the bladder in Retzius' space, evidently compressing the bladder and causing the urinary problems . After eInguinal hernia repair is one of the most commonly performed surgical procedures worldwide. Particularly placement of polypropylene meshes in hernia repair has become the acknowledged and standard surgical treatment. Postoperative seroma, hematoma, and wound infection are well known, early complications –4. FormaThe majority of the case reports discuss pseudocyst after incisional hernia repairs , 2, 5–9;To the best of our knowledge this is the first case report describing a laparoscopic fenestration as a successful treatment of a pseudocyst. We believe that it is a safe, effective, and patient friendly approach and should be considered before a major laparotomy if the abdomen is laparoscopically accessible.A pseudocyst is a rare complication after hernioplasty, possibly as a result of seroma or hematoma formation. Aspiration and sclerotherapy are fruitless; the best treatment described so far is surgical resection of the pseudocyst. Laparoscopic fenestration without removing the pseudocyst with or without removal of the polypropylene mesh is a safe and effective minimal invasive approach to the treatment of a symptomatic pseudocyst and should also be considered in the approach of other large symptomatic cysts.


Enteric duplication is one of the rare malformations affecting the small intestine more than the other parts of the gastrointestinal tract. It poses a challenge in diagnosis due to nonspecific symptoms that may mimic other pathologies. Furthermore, the management options including total resection, mucosal striping, and internal drainage of the duplicate depend on the presentation of the patient, site, and length of the involved bowel. We present the first documented case of enteric duplication in Tanzania, a 3-year-old male, who was found to have a 90 cm long jejunoileal duplicate. We discuss the presentation and management offered. Enteric duplication is one of the rare malformations usually presenting with variety of symptoms including abdominal pain, intestinal obstruction, perforations, and gastrointestinal bleeding . The dupA 3-year-old male patient presented with a history of abdominal pain and vomiting for two days and a history of rectal bleeding for 4 months. The abdominal pain was generalized associated with vomiting. The mother reported on and off episodes of passing black tarred stools since when he was four months of age. Those episodes occurred at least once a year, lasting for few days, with spontaneous remission.There was no history of constipation, diarrhea, or hematemesis.On examination, the child was sick looking, malnourished, and conscious with conjunctiva and palmar pallor. He had a temperature of 36.9°C, and no finger clubbing. His heart rate was 140 beats per minute with a respiratory rate of 24 breaths per minute and oxygen saturation of 98% in room air.Per abdomen, it was distended and tender with muscle guarding on palpation. Bowel sounds were present with reduced frequency and pitch. On digital rectal examination, the rectum was loaded with fecal matter, and no mass palpable and no bleeding were noted on removal of the gloved finger. Other systems had normal findings.The plain abdominal X-ray done on admission showed proximal dilatation of small bowel loops, gaseous with some air fluid levels, while the distal part being dense with the rectum loaded with fecal matters .The abdominal ultrasound showed gaseous abdomen with dilated bowel loops and minimal pelvic collection.9/l predominantly neutrophils (71.5%).The patient's blood group was O positive, with hemoglobin of 6.6 g/dl microcytic hypochromic cells. Also, the full blood count showed leukocytosis of 17.65 × 10He had low sodium levels of 129 mmol/l (135–145 mmol/L) and slightly high potassium levels of 5.14 mmol/l (3.5–5.0 mmol/L) with normal chloride levels. Serum protein levels were low (34.2 g/L) with hypoalbuminemia (16.23 g/L). The Widal test was negative.The patient was diagnosed to have peritonitis, with anemia due to lower versus upper gastrointestinal bleeding and malnutrition.The decision for exploratory laparotomy was made after optimizing the patient. A supraumbilical transverse incision was used to access the abdominal cavity. Intraoperative findings were multiple immature adhesions with pus pockets. The omentum was adhered to the pelvic region. There was a tubular duplication of the small intestine starting at 15 cm from the ligament of Treitz with the proximal part of the duplicate ending blindly and the distal forming a confluence with the terminal ileum . The duplicate bowels shared the mesentery spanning the length of about 90 centimeters with a perforation at the mesenteric border of the confluence . The appResection of the perforated segment involving the confluence of the two lumens was done followed by end-to-end anastomosis to the terminal ileum. A side-to-side anastomosis for proximal duplicate lumens was done to promote drainage and prevent blind loop syndrome. Appendicectomy was also done. The histology of the resected part of the confluence showed double lumen with the septum containing the muscularis propria .The patient was nursed in intensive care unit postoperatively. He received blood transfusion, proton-pump inhibitors, antibiotics, and nutritional supplements. On the 7th day after surgery, he developed surgical site infection with wound dehiscence and leakage from the proximal side to side anastomosis with the duplicate lumen. Repair was done with application of retention sutures.The patient improved and fared well after the second surgery and was discharged 3 weeks later. He was followed up after discharge for six months in the clinic and had no any new complaints.Enteric duplication is a condition of rare occurrence. The incidence is about 1 out of 10,000 live births with most of the duplication affecting the small intestine (jejunum and ileum) , 8. MostThe presentation of the patients may vary depending on the type of the duplication, whether circular or tubular. Also, the location of the duplicate plays a big role in the symptomatology. The common listed presenting symptoms are vomiting, abdominal distension, and abdominal pain . Other sDespite the wide range of differential diagnoses which are possible in pediatric patients, a high index of suspicion of duplicate intestine in this population is important. This will allow targeted diagnostic tests and timely intervention. Our patient's initial problem was never identified and hence led to progression of the disease process. His initial symptoms constituted gastrointestinal bleeding, with severe anemia, and later developed abdominal pain with signs of peritonitis. It is with this regard some authors have advocated to always have high index of suspicion of duplicate intestine when making differential diagnosis in pediatric patients with hematochezia .The management options for duplicate intestine include surgical resection of the duplicate or internal drainage . If the The surgical procedure in children with enteric duplication aims at elimination of symptoms as compared to the one that may be done in adults, which in addition aims at total removal of the duplicate intestine due to the documented risk of developing neoplasia , 13–16. It is important to think of intestinal duplication as part of differential diagnosis when dealing with pediatric patients presenting with hematochezia. Furthermore, the management of the patient should consider the site and length of the duplicate segment of the bowel for good outcomes.


Hypopituitarism is a disorder caused by a reduced level of trophic hormones that may be consequent on different destructive processes. The clinical manifestations depend on the type of hormone involved. A deficiency of growth hormone (GH) in children causes the lack of growth known as pituitary dwarfism. The case is reported of a patient with pituitary dwarfism, multiple dental anomalies, functional prosthetic problems, and a revision of the literature. She was subjected to prosthetic rehabilitation without surgical intervention, using zirconium substructures, thus eliminating the potential complications that may require trauma surgery. The therapeutic approach adopted led to excellent results and restored an aesthetic smile. Pituitary dwarfism is a disease resulting when the body fails to use the pituitary growth hormone GH. Adenohypophysary hypofunction occurs when there is parenchymal loss of 75% or more. The causes may be congenital (rare) or acquired. The most frequent causes are nonsecreting adenomas, ischemic necrosis of the pituitary gland, and surgical removal or irradiation of the pituitary adenohypophysis. Hormone deficiency may be the consequence of no or decreased production, or inadequate absorption by the tissues responsible . The disThe skeletal age is below the stature age but above the chronological age. The hormone stimulates protein synthesis and thus tissue growth, including that of bone. However, since deficiency of growth hormone is not a thanatophoric condition, the patient may reach adulthood, although he/she will be marked by the characteristics acquired in childhood, such as height below 120 cm, which is the maximum attainable. The poor development of the forehead may lead to the maxilla and mandible being abnormally small, so that the physiological changes associated with tooth eruption may lead to tooth malformation –7.In pituitary dwarfism there may be various anomalies of the dental apparatus, from the morphological profile and in terms of development. The clinical picture presents aspects of hypodontia, delayed tooth eruption, abnormalities of tooth shape and size, and double or impacted teeth.A case of pituitary dwarfism with dental abnormalities is presented, outlining the clinical therapeutic profile and reviewing the literature.A woman of 50 with very short stature presented to the Department of Prosthetic Dentistry, University of Genoa  with occlusion problems. She was affected by pituitary dwarfism. Hypodontia together with multiple abnormalities, including tooth shape, small size, and double teeth, was noted during physical examination of the oral cavity Figures  and 2. OStumping with cutters was next done, in order to chamfer the teeth in question to 45°, while respecting the parallelism of their interproximal sides; as little dental tissue as possible was removed. After making impressions of the teeth with precision material, a temporary prosthesis was prepared; once the substructure in zirconium was put in place, the occlusion in the anterior region was checked. Having established the validity of the prosthesis, its definitive realization in zirconium-ceramic was accomplished. The result gave the patient a marked and decisive improvement of her smile .Growth hormones are produced by the anterior lobe of the pituitary gland, which also expresses and secretes five additional hormones . Proper development of the pituitary gland assures the regulation of critical processes, including metabolic control, puberty and reproduction, stress response, and lactation. Disordered expression or function of some genes has been implicated in the etiology of combined pituitary hormone deficiency; these genes act at different stages of pituitary development, resulting in unique patterns of hormonal deficiency reflecting their differential expression during organogenesis. The marked variability in the clinical presentation of patients illustrates the influence of genetic background and environmental factors. However, in the majority of pituitary disorder cases, the etiology of this heterogeneous disease remains unexplained, which suggests additional genes may be involved. Identification of these might also enhance understanding of pituitary development, maintenance, and function.A literature search  produced 57 cases with the presence of numerous anomalies . Their frequencies, updated to the present time, are presented in Bretéché et al. report that a prevalent anomaly is the presence of a single maxillary median incisor . AlthougKosowicz and Rzymski identified many other abnormal situations in the oral cavity that recur relatively frequently in pituitary dwarfism . CobournThe case reported here had 69.2% of all reported anomalies of dwarfism. The root fusion in the case, although noted as a “rare situation,” reveals an aspect that, in the authors' opinion, is yet to be included in the various descriptions: tooth fusion between two or more crowns has been reported, whereas in the present case fusion was limited to the roots, which had independent and autonomous crowns. This feature makes the case unique, and it is also of interest for the type of prosthetic rehabilitation performed.From the patient's medical history, her pituitary dwarfism was not associated with any other particular disorder. Her stature was very short (about 1.20 cm); she had not received GH replacement therapy nor thyroid, gonadal, or corticoid replacements.Only 15.3% of anomalies relating to dwarfism, described in the literature, were missing from the case. In particular, there was no displacement of the first molars from the shaft to the ascending branch of the mandible, and both median maxillary central incisors were present.The interest of this case resides both in the irregular dental situation and in the success of the therapeutic plan. Prosthetic rehabilitation in the aesthetic zone is one of the most challenging tasks in modern dentistry, especially in patients with serious syndromes or hormonal dysfunction. In recent years, aesthetic dentistry has been facilitated by the advent of materials and resins with improved mechanical performance that combine aesthetic and functional characteristics. In this context, the metal most used is zirconium. This is a transition metal of shiny white color, with excellent physical properties including good resistance to corrosion, which is lighter than steel and whose hardness is comparable to copper . These cWith this conservative strategy, however, frequent follow-ups are essential: the fixity of the zirconium to the underlying teeth and the lack of periapical lesions of the fused roots must be continually monitored.The report shows that, in patients with specific functional and aesthetic problems, including those with rare dental malformations, a good prosthetic rehabilitation can be achieved without resorting to surgery, thus avoiding any related complications, as well as the inevitable trauma to the patient.


Histiocytic cell malignancies are very rare. Hence, the information about this disease in hematology is limited. In this case report, we present a case of malignant histiocytic tumor affecting the ovary of a 40-year-old virgin female. Primary ovarian malignancy was not considered for the patient who was approached as if she had ovarian malignancy, since there was an indication of a mass in the ovary. Therefore, an aggressive surgery was not performed. Since our patient was in the reproductive age, fertility-preserving surgery was performed. Our patient was then treated systemically by medical oncology. In conclusion, the rare malignancy group was investigated in the present study along with an evaluation of the current literature. Histiocytic and dendritic cell malignancies have been classified as lymphomas, sarcomas, or histiocytic neoplasms, whereas this classification has been currently abandoned by the World Health Organization. Dendritic cell neoplasms were grouped under five subtitles. This classification was constructed as follows: Langerhans cell histiocytosis (LCH), Langerhans cell sarcoma, interdigitating dendritic cell sarcoma, follicular dendritic cell sarcoma/tumor, and other rare dendritic cell tumors .Histiocytic sarcomas are malignant proliferation of cells showing morphological and immunophenotypic characteristics of mature tissue histiocytes , 2. CurrThe LCH group is a clonal neoplastic proliferation of Langerhans type cells expressing CD1a, langerin, and S100 protein. It is usually diagnosed in childhood. Its annual incidence is approximately one in five million . LCH witHistiocyte-associated neoplasms are rarely seen in the genital system. It is most commonly seen as LCH in the vulva . Herein,A 40-year-old patient was admitted to another center with complaints of weight loss and sweating about one year ago before she was referred to our hospital. Multiple benign lymph nodes in the longitudinal, axillary, and inguinal regions were detected by ultrasonography (USG). In the abdominal USG, a pelvic mass with the size of 6 × 7 cm was detected in the neighborhood of left ovary at the posterior of the uterus corpus. Magnetic resonance imaging (MRI) confirmed a mass of approximately 8 × 5 cm in the left ovarian localization. In addition, conglomerated lymph nodes with 4 cm in size were detected in the para-aortic region. The entire body was evaluated as normal on MRI about 12 months ago.Left salpingo-oophorectomy + para-aortic lymph node dissection + tumoral debulking were performed in the operation. The patient's frozen biopsy result was reported as malignant appearance of unknown primary. Lymph nodes with a conglomerate mass appearance in the para-aortic region were concurrently sent for simultaneous frozen biopsy investigation. As a result, the operation was terminated when it was reported that a lymphoid malignancy might be present. The pathology result was reported as malignant lymphoma. For the pathological investigation of the patient who underwent salpingo-oophorectomy due to suspected ovarian malignancy, in the first health center, it was considered that there was malignant lymphoma or lymphoid pathology, but it was not related to a primary ovarian origin. However, the patient consulted another external center for the definite diagnosis and type identification. None of the immunohistochemical studies performed at the other center helped the diagnosis . Dr. Robert Young from Mass General Hospital  was asked for his opinion, as a definite result was not obtained from the evaluation of the patient's samples. He thought that the neoplasm did not originate from the genital system. Therefore, the case was sent to Dr. Metin Özdemirli from Washington University where immunohistochemical studies revealed that the tumor reacted positively with CD33. The tumor that could not be classified in this center was evaluated as “malignant histiocytic tumor.” Since immunohistochemistry did not help, this diagnosis was made following a process of elimination. After discharge, the patient was referred to a medical oncology clinic.The patient was applied (and admitted) to our clinic due to the recurrence of the mass about one year after the first operation and the subsequent chemotherapy. The patient's hemoglobin value was 7 mg/dL. Other laboratory test results were at normal levels. Two F-18 fludeoxyglucose (FDG) positron emission tomography images taken at four months intervals showed intense hypermetabolic lymph node involvement and an increase in FDG metabolism in the left bowel localization of the abdomen, in the left external iliac area, in the left lumbar, and in the left paravertebral area . During Langerhans cells are peripheral dendritic antigen processing cells of bone marrow origin. They are found throughout the body. They play an important role in localized immune response to antigens . HistiocThe Histiocyte Society classifies diseases as Single System or Multisystem depending on the extent and localization of the diseases . AlthougThe pathogenesis of the disease still remains controversial although two main theories emerge: neoplastic versus reactive processes. The first is supported by the fact that the proliferation of Langerhans cells appears to be monoclonal in nature due to somatic changes in tumor suppressor genes . WhetherThe ADNEX risk model can be used by medical doctors to diagnose ovarian cancer in women who have at least one persistent adnexal  tumor and are considered to require surgery . The ADNHistiocytic cell malignancies are very rare, and hence the information about this disease in hematology is limited. Primary ovarian malignancy was not considered for the patient who was approached as if she had ovarian malignancy, since there was an indication of the mass in the ovary. Only 18 female genital tract histiocytic cell malignancy cases have been previously reported in medical literature in which all of the reported patients have presented papulous or ulcerative lesions on vulva or cervix. Our case was present in the form of an ovarian mass. Therefore, an aggressive surgery was not performed. Since our patient was in the reproductive age, fertility-preserving surgery was performed. Our patient was then treated systemically by medical oncology. In conclusion, a rare malignancy group was investigated in the present study along with an evaluation of the current literature.


We herein described a rare case of schwannoma of the hypoglossal nerve in the submandibular region with diagnostic imaging and histopathological findings.A 31-years-old woman has had a palpable firm, rubbery, freely mobile mass in the submandibular region. Of imaging, MR images showed homogeneous isointensity on T1-weighted imaging (T1-WI), heterogeneous hypointensity on T2-WI, heterogeneous hyperintensity on short T1 inversion recovery (STIR), and heterogeneous enhancement on contrast-enhanced T1-WI. A clear capsule was observed on the margin and showed hypointense on T2-WI. Dynamic MRI showed heterogeneous gradual increased enhancement. The uptake of contrast medium was regionally slow. Diagnostic imaging using CT and MRI was suspected of salivary gland tumor or neurogenic tumor. In consideration of imaging diagnosis, a pleomorphic adenoma or a schwannoma was suspected. Final diagnosis was confirmed on the basis of histopathological finding and intraoperative findings.1. Histopathologic examination is inevitable, because MR findings are not specific.2. Schwannomas were said to have specific MRI properties, including specific signs . However, they are not always observed.3. This case confirmed the differential diagnosis on the basis of the intraoperative finding that the tumor was continuous with the hypoglossal nerve. Approximately 25 to 45% of extracranial schwannomas occur in the head and neck, most likely around the glossopharyngeal space and the carotid artery sheath. Although occurrence in other sites is relatively rare, it has been reported to occur in the parotid gland, nose, paranasal sinuses, and the oral cavity -3. SchwaSchwannoma arose from hypoglossal nerve in the submandibular space is rare. In the present report, we described a case of schwannoma of the hypoglossal nerve in the submandibular region with imaging and histopathological findings.2A 31- years- old woman was aware of swelling at the left submandibular region in 2008, but she was left untreated because of the absence of symptoms. She was diagnosed with chronic submandibular sialoadenitis by CT at an ear, nose and throat hospital in 2013. She presented to our hospital in May 2013 for follow-up. Physical examination revealed a palpable firm, rubbery, freely mobile mass measuring about 25mm at its widest diameter in the right submandibular region. Slight tenderness was present on palpation and salivary flow was normal. The tip of the tongue was deviated to the affected side on protrusion. Routine hematologic investigation findings were normal.1).An initial panoramic radiograph and anterior standard mandibular occlusal plain radiographs revealed nil abnormalities. Non-contrast CT revealed a well-circumscribed spherical 29 x 30 x 30 mm mass with heterogeneous density in the right submandibular region. The mass was located lateral to the genioglossus and hypoglossus muscles and the submandibular gland was compressed and inferiorly displaced. Contrast-enhanced CT demonstrated inhomogeneous weak enhancement, and intratumoral blood vessels were strong enhancement. No evidence of cystic or necrotic degeneration was present in the CT . For dynamic MRI, three-dimensional volumetric interpolated breath-hold examination shooting sequence was used with a slice thickness of 3mm. Four shots were taken at 30-seconds intervals. Dynamic MRI showed heterogeneous gradual increased enhancement. The uptake of contrast medium was regionally slow . The lesion was suspected of salivary gland tumor or neurogenic tumor on the basis of the above imaging findings. In consideration of frequency, a pleomorphic adenoma or a schwannoma was especially suspected clinically.Two weeks later, the patient underwent MRI. MR images showed homogeneous isointensity on T1-weighted imaging (T1-WI), heterogeneous hypointensity on T2-WI, heterogeneous hyperintensity on short T1 inversion recovery (STIR), and heterogeneous enhancement on contrast-enhanced T1-WI. A clear capsule was observed on the margin and showed hypointense on T2-WI. The submandibular gland was compressed and displaced inferiorly . The tumor was excised with preservation of the submandibular salivary gland. No cystification or necrosis degeneration was observed from the macroscopic features. Histopathologic examination of the surgical specimen demonstrated a central mucous matrix and the surrounding nerve axon. The specimen also contained Antoni type A and Antoni type B . Antoni type A is composed of spindle shaped Schwann cells with elongated nuclei arranged in streams and nuclear palisades known Verocay bodies. Antoni type B consists of less spindle cells and a myxoid background. The present case contained a mixture of Antoni type A and Antoni type B; Antoni type A being the predominant microscopic pattern, alternating with Antoni type B areas occasionally. Thus, the definitive diagnosis was schwannoma of the hypoglossal nerve. In the present case, a 2-year follow-up MRI showed no evidence of recurrence.Total excision of the tumor was performed under general anesthesia. Intraoperatively, the tumor was well-encapsulated and continuous with the hypoglossal nerve , Antoni type B cells (less organized and distributed in a light fibrillar matrix), and Verocay bodies , 4, 12. The treatment of choice is surgical excision with preservation of nerve function , 8. RecuHistopathologic examination is inevitable, because MR findings are not specific.Schwannomas were said to have specific MRI properties, including specific signs . However, they are not always observed.This case confirmed the differential diagnosis on the basis of the intraoperative finding that the tumor was continuous with the hypoglossal nerve.


Human pulmonary dirofilariasis is a rare zoonosis caused by the dog worm Dirofilaria spp., a parasite transmitted by mosquitos and resulting in peripheral lung nodules. The filarial nematode enters the subcutaneous tissue, travels to the right ventricle and dies causing a small pulmonary infarction that may embolize through the pulmonary vessels and may appear as a solitary nodule. These nodules are usually incidentally identified in asymptomatic patients undergoing chest imaging studies, and are generally interpreted to be malignant.We present the case report of a human dirofilariasis in a patient with multiple pulmonary nodules resected using video-assisted thoracic surgery (VATS). According to our literature review, this is the first case with double synchronous lung nodules reported in Italy.Minimally invasive resection with histologic examination may be the best approach for the diagnosis and treatment of pulmonary dirofilariasis. Polymerase Chain Reaction testing may provide a more accurate etiological diagnosis in case of an inconclusive pathology result. Dirofilaria repens and Dirofilaria immitis. It is poorly recognized even in endemic areas such as the Mediterranean and the south of Italy. Dirofilariae are Onchocercidae nematodes that usually target dogs and wild carnivores living in tropical and temperate regions. Humans can be accidentally infected with Dirofilaria larvae through mosquito bites [Human dirofilariasis is a zoonotic infection mostly caused by the filarial nematodes to bites , 2. Noduto bites , 4.Dirofilaria repens [.According to our review of the literature, we report the first case of an Italian patient with two pulmonary nodules, mimicking malignant lesions, which were surgically resected and underwent subsequent morphological and molecular identification of a repens –12.A 63-year-old woman from the south of Italy was admitted to the thoracic surgical service for the evaluation of two coin lesions of the right lung. The lesions were found incidentally on a chest X-ray Fig.  that theD.repens . A quantity of 20 ng DNA was used for the amplification with four specific forward primers and a common reverse primer as showed in Table cox1 amplicons from the DNA extracted from the embedded tissue resulted in a band consistent with D. repens (479 bp). The BLAST analysis of the cox1 sequences revealed a 99 to 100% identity compared to the sequences available in GenBank™.A biomolecular testing procedure was performed to further validate the diagnosis, and to discriminate the specific Dirofilaria subspecies. Total DNA extraction was carried out from paraffin embedded tissue taken from the lung nodules, by using a QIAmp DNA mini kit. Reference genomic DNA was extracted from animal blood containing D. repens in endemic areas of Southern Europe may be justified by the recent, increasing number of published human cases, with an increasing prevalence in Italy  [Growing concern over nd 2009) . Human dnd 2009) , France nd 2009) .Women have a trend to be more commonly infected than men, although without any statistical difference , 6. TwenThe use of minimally invasive techniques for the diagnostic and therapeutic excision of lung nodules of unclear origin should be strongly encouraged. The rarity of this zoonosis may also warrant the use of biomolecular assays as a tool to achieve an unequivocal etiological diagnosis and to assist the histo-pathologic and microbiologic diagnostic interpretation.


SMO  causes CJS. This report describes the gastrointestinal and surgical findings in a baby with CJS who presented with abdominal obstruction and reviews the spectrum of gastrointestinal malformations in this rare disorder. A 41‐week, 4,165 g, female presented with craniosynostosis, pre‐axial polysyndactyly, and cutaneous findings consistent with a clinical diagnosis of CJS. The infant developed abdominal distension beginning on the second day of life. Surgical exploration revealed an intestinal malrotation for which she underwent a Ladd procedure. Multiple small nodules were found on the surface of the small and large bowel in addition to an apparent intestinal duplication that seemed to originate posterior to the pancreas. Histopathology of serosal nodules revealed bundles of smooth muscle with associated ganglion cells. Molecular analysis demonstrated the SMO c.1234 C>T mutation in varying amounts in affected skin (up to 35%) and intestinal hamartoma (26%). Gastrointestinal features including structural malformations, motility disorders, and upper GI bleeding are major causes of morbidity in CJS. Smooth muscle hamartomas are a recognized feature of children with CJS typically presenting with abdominal obstruction requiring surgical intervention. A somatic mutation in SMO likely accounts for the structural malformations and predisposition to form bowel hamartomas and myofibromas. The mutation burden in the involved tissues likely accounts for the variable manifestations.Curry–Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre‐axial polysyndactyly, agenesis of the corpus callosum, cutaneous and gastrointestinal abnormalities. A recurrent, mosaic mutation of  This gene encodes the G‐protein coupled receptor smoothened which is involved in the HH‐GLI signaling pathway. The authors then identified varying amounts of the identical mutant allele by deep sequencing of affected tissues in eight unrelated individuals with CJS, providing additional evidence for the molecular cause of CJS.Until recently, the genetic etiology of CJS was not known. All cases of CJS occurred sporadically and karyotype analyses of blood and fibroblasts from affected skin were normal. Based on clinical observations including asymmetric features and patchy cutaneous manifestation, it was hypothesized that CJS was due to a somatic mutation arising in early post‐zygotic embryonic development. However, symmetric polydactyly and syndactyly was not consistent with this hypothesis. Grange et al.  reportedg et al.  identifiSMO  that causes CJS. This report presents a detailed clinical description and is accompanied with a more complete molecular analysis. In addition we compare the gastrointestinal features with prior cases in the literature and discuss the developmental pathophysiologic correlates to further delineate the syndrome.Gastrointestinal abnormalities are a cardinal feature of CJS. Previously described findings include pseudo‐obstruction, malrotation, and gastrointestinal myofibromas or smooth muscle hamartomas , length of 53.3 cm , and occipitofrontal head circumference of 38.5 cm  .The proband is a female infant born at 41 weeks EGA to an 18‐year‐old G1P0 Hispanic‐Samoan mother and non‐consanguineous 18‐year‐old Hispanic father. The mother had routine prenatal care and there were no significant exposures. Pregnancy was complicated by pyelectasis and absent cavum septum pellucidum detected on ultrasound during the second trimester fetal anatomy survey. Upon transfer of care at 35 weeks (after the family relocated), she was started on weekly non‐stress tests due to the presence of suspected fetal anomalies. A repeat ultrasound obtained at 39 3/7 weeks GA showed accelerated fetal growth , and apparent fusion of the anterior lateral ventricles, concerning for alobar holoprosencephaly. The infant was delivered by cesarean section after a failed induction of labor with Apgars of 9 and 9 at 1 and 5 min, respectively. The infant was large for gestational age with a birth weight of 4,165 g  suction and bowel rest with initial improvement in symptoms. However, she continued to have bilious OG output in the absence of bowel movements for multiple days. Serial abdominal radiographs did not show obvious obstruction, although she had very delayed transit of contrast through her bowel and rectum. Rectal biopsies were obtained which revealed the presence of ganglion cells, effectively ruling out Hirschsprung disease. Rare hypertrophic nerve bundles were also noted on biopsy. After rectal biopsy, an upper GI radiographic series with barium contrast revealed malrotation without volvulus and delayed emptying of contrast through the cecum and rectum.On day 14, the infant underwent exploratory laparotomy and Ladd procedure to address the malrotation. During laparotomy, the patient was found to have a curvature at the duodenum that appeared almost twisted but no Ladd bands crossing the small bowel, and no obvious point of obstruction. Throughout the abdomen on the mesentery and the surface of the bowel and appendix were small tumors Figure a. FormalFollowing NICU discharge, the infant had intermittent emesis, poor weight gain on 24 kcal fortified formula, and chronic constipation. She was admitted at 5 months of age for failure to thrive. The infant was noted to have a focal area of esophageal narrowing just below the level of the thoracic inlet on a modified barium swallow study. An upper GI and small bowel series with barium contrast demonstrated diffuse intestinal distension. Anorectal manometry revealed borderline elevated resting pressure of the internal anal sphincter with normal recto‐ano inhibitory reflex. The esophageal pH study was normal. A follow‐up brain MRI demonstrated left cerebellar tonsillar ectopia, near complete agenesis of the corpus callosum, colpocephaly, increased size of the lateral and third ventricles, and a dysgenesis of the tectal plate and delayed myelination for age. The infant underwent gastrostomy tube placement for dysmotility and poor weight gain. Intraoperative findings included a markedly dilated transverse colon. The infant was discharged home on continuous gastrostomy tube feedings after 45 hospital days.z = −3.32), length was less than the first percentile (z = −2.35), and head circumference at the 73rd percentile (z = 0.63) on WHO growth charts. She developed intermittent abdominal distension, emesis, and irritability when gastrostomy feedings were advanced. A CT of the abdomen and pelvis demonstrated diffuse colon dilatation without obvious mechanical obstruction. The abdominal distension improved with placement of a nasogastric tube. Based on the imaging findings, the diagnosis of CJS, and known anatomical abnormalities from prior procedures, the clinical picture was most likely to be caused by colonic pseudo‐obstruction. An ileostomy was recommended to manage colonic pseudo‐obstruction. However, after multiple meetings with the family the parents declined the ileostomy. The infant was discharged home with the family at 9 months on hospice care and subsequently died.The infant was readmitted when she was 8 months old for feeding intolerance and weight loss. Upon admission, this formerly macrosomic infant had a weight for age less than the first percentile  sections of the intestinal smooth muscle hamartoma. Skin samples were placed in tissue culture dishes to isolate fibroblasts and keratinocytes. After 2 days of culture, fibroblasts were removed by trypsin digestion , while the keratinocytes (which surround the skin sample) were harvested using a cell scraper. DNA was extracted from skin (including isolated fibroblasts and keratinocytes) by Proteinase K digestion followed by phenol/chloroform extraction and ethanol precipitation, while DNA from FFPE material (five 10 μM sections) was isolated using the QIAamp DNA FFPE Tissue kit (Qiagen). Cellular identities of keratinocytes and fibroblasts were confirmed with RT‐PCR analysis of expression of the two distinguishing FGFR2 isoforms . The same mutant allele of SMO  found in other cases of CJS  in seven other cases with CJS in multiple affected tissues including skin, FFPE samples of medulloblastoma, intestinal myofibromas, or smooth muscle hamartomas. Within the skin, the mutant allele frequency varied with the phenotypic findings of the skin (hyperpigmented or affected compared with unaffected) but also with the layers of the skin. The factors that drive a higher mutant allele frequency within the epidermis are unknown. In addition, detection of the mutant allele within apparently unaffected skin at a low level suggests that the mutation arose early in skin development. Indeed, the presence of mosaicism as well as detection of the mutant allele in multiple different tissue types suggests that the mutation occurred as a post‐zygotic error early in embryonic development.Important insights into the clinical and molecular pathogenesis of CJS can be drawn from the present case. From a molecular standpoint, a recurrent mosaic mutation in g et al.  recentlySMO is a key component of the HH‐GLI pathway and its protein product, smoothened, is essential for normal HH signal transduction. The HH‐GLI pathway has widespread roles in embryonic development , congenital short gut (n = 1), and intestinal duplication (n = 1). One child underwent screening imaging at 9 months of age due to reports of gastrointestinal abnormalities in CJS and was found to have an asymptomatic malrotation , small intestine dysmotility (n = 1), to severe pseudo‐obstruction (n = 4), requiring multiple hospitalizations and colostomy. Children affected with pseudo‐obstruction often required multiple hospitalizations for symptomatic management and nutritional support and one child underwent colostomy. Despite surgical intervention, children with CJS and gastrointestinal abnormalities tend to have recurrent abdominal symptoms and poor postnatal growth. The prognosis of gastrointestinal features is guarded as symptoms often recur or persist despite surgical intervention. Vigilant and coordinated inter‐disciplinary care with medical, nutritional, and surgical teams is crucial to mitigate the morbidity due to gastrointestinal abnormalities and optimize postnatal growth.Symptoms of underlying gastrointestinal pathology may have delayed presentation in children with CJS. Beginning at 10 years of age, one child with CJS had recurrent episodes of bloody stools and orthostasis requiring hospitalization and multiple blood transfusions (noted in the table in Grange et al., All cases of CJS in the literature have a distinctive pattern of malformation allowing clinical diagnosis of this condition. Individuals newly diagnosed with CJS should have a thorough evaluation to characterize the degree of gastrointestinal manifestations (see Table