Melanotic schwannoma is an extremely rare schwannoma variant with malignant potential, demonstrating high local and distant recurrence. Given the paucity of data, recommended treatment with localized disease is radical resection, with the unclear benefit of adjuvant therapy. We present a case of an 18-year-old female with no past medical history or genetic syndromes who underwent margin-positive resection of an S1 nerve root melanotic schwannoma followed by adjuvant stereotactic radiosurgery (SRS). SRS was delivered without acute or late toxicity by 2.5 years post-treatment. She remains without evidence of recurrent disease, although longer follow-up is needed given the risk of late recurrence. Our case adds to the limited literature documenting the efficacy of adjuvant radiotherapy in melanotic schwannoma and is the first to describe the successful use of SRS for this rare disease. Melanotic schwannoma is a rare variant of schwannoma with less than 200 reported cases, often presented in case reports or series -5. It teGiven the rarity of this tumor, there is a paucity of data to guide optimal treatment. For localized disease, radical resection is preferred as incomplete resection is associated with tumor recurrence ,8. HowevGiven the unpredictable biologic behavior and initial reports of benign behavior, unclear efficacy of radiotherapy, and typically young age of these patients (median age in the fourth decade) , there aWe describe a case of an 18-year-old female with a symptomatic MMS with microscopically positive margins after re-resection. She successfully underwent adjuvant SRS with no evidence of disease or radiation sequelae at 2.5 years post-treatment.An 18-year-old female without significant past medical or family history presented with progressive lower back pain and right lower extremity radicular pain for several years. Magnetic resonance imaging (MRI) of the lumbar spine revealed a T1 hyperintense/T2 hypointense well-circumscribed 2.9 x 2.8 cm mass along the course of the exiting right S1 nerve root; it appeared to be extradural with extension into the S1-S2 neuroforamen and expansive remodeling of the neuroforamen and S1 vertebral body Figures -1C. On pThe recommendation upon multidisciplinary review was aggressive re-resection, including the sacrifice of the S1 nerve root. The S1 nerve root was ligated at the dural margin and distal to the mass to allow en bloc, gross total resection of the mass. The proximal margin was microscopically positive for the tumor. Genetic testing was done, primarily to rule out Li-Fraumeni syndrome and Carney complex. Stanford solid tumor actionable mutation panel (STAMP) did not identify mutational targets.Adjuvant radiotherapy was recommended to minimize the risk of local recurrence. To minimize the risk of secondary malignancy, infertility, and overall treatment burden in this young patient, adjuvant SRS was recommended over external beam radiotherapy. Systemic therapy was not recommended given localized disease and unclear benefits.Stereotactic radiosurgery treatmentRadiation simulation was performed three months post-operatively, after restaging MRI of the full neuroaxis confirmed no interval distant metastases. The resection site demonstrated post-operative changes and likely granulation tissue. The pre-operative T2 MRI was fused for target contouring. A clinical target volume (CTV) 40 Gy was contoured as the post-operative bed and ensured coverage of pre-operative tumor extent. A dose of 40 Gy in five consecutive daily fractions was prescribed to the CTV 40 Gy target periphery to the 84% isodose line. A subclinical CTV 25 Gy was also prescribed to cover the remainder of the spinal canal on axial sections, and approximately 1 cm craniocaudal margins on the visible post-operative changes Figure .SRS was delivered on CyberKnife System  with patient immobilization using a custom vacuum bag and real-time spine tracking Figure , allowinThe patient tolerated radiotherapy without complication and did not require steroids following treatment. Three months after completion of radiosurgery, she reported significant improvement in pain and remained free from radiographic recurrence. She continued with regular surveillance every three months for the first two years, and every six months thereafter. At 2.5 years post-SRS, she is doing clinically well, with no weakness, resolution of her pain, and no evidence of disease on serial full-spine MRIs and PET/CTs.Given the rarity of melanotic schwannoma, neither the biologic behavior nor the optimal treatment has been well classified. Discovered almost a century ago, it was initially thought to be indolent and benign. However, a recent series, the largest to date of 40 patients, demonstrated high local and distant recurrence of 35% and 44%, respectively . SimilarThere are two critical aspects of this case that should be emphasized. First is the assurance of accurate diagnosis and staging. Notably, melanotic schwannomas appear radiologically distinct from classic schwannomas and peripheral nerve sheath tumors given the T1 hyperintensity and T2 hypointensity on MRI Figure . With thThe efficacy of adjuvant radiotherapy in melanotic schwannoma is unclear and limited to a few case reports of conventionally fractionated radiotherapy to as high as 60 Gy ,4,6-8,15The second point of emphasis, to our knowledge, is that we describe the first use of SRS in the adjuvant treatment of this tumor. SRS was chosen to reduce treatment duration (from six weeks to one week) and to reduce irradiation of normal tissue due to the tight dose gradient. SRS allowed us to reduce the dose to the ovaries in this young, premenopausal patient, and to potentially reduce the risk of secondary malignancy . The dosOur patient is now 2.5 years out from SRS and is doing clinically well without radiation sequelae or evidence of disease. It should be noted that longer follow-up is required as late relapse after five years has been reported . HoweverMelanotic schwannoma is a rare schwannoma variant with a high potential for local and distant recurrence. The role of adjuvant therapy in cases where radical resection is not achieved remains unclear. This case highlights the potential efficacy of adjuvant radiotherapy in cases of marginal resection. More specifically, this case demonstrates adjuvant SRS can be an effective and well-tolerated treatment for resected melanotic schwannoma.


Giant hydronephrosis is a rare urologic problem defined as a collection of more than one liter of urine in the collecting system. The radiologic appearance may mimic benign cystic disease of the kidney. We report a case of giant hydronephrosis in a 32-year-old female who presented with progressive abdominal swelling of two-year duration, caused by ureteropelvic junction obstruction with more than nine liters of urine in the collecting system.  Giant hydronephrosis is a rare differential diagnosis for cystic intra-abdominal mass in adults with progressively increasing abdominal swelling. CT and MRI are important in confirming the diagnosis by localizing the origin of the swelling. Management depends on the underlying cause and appearance of the diseased kidney. Giant hydronephrosis is defined as the presence of more than one-liter urine or 1.6% of the bodyweight of urine in the collecting system . The devUrolithiasis and tumors either in the renal system or in adjacent organs can cause a compressive disease. This compression leads to obstruction of the renal collecting system leading to hydronephrosis, which gradually grows to have a cystic appearance. There are wide ranges of differential diagnoses for cystic intra-abdominal mass which resemble giant hydronephrosis, including; ovarian cysts, hepatobiliary cysts, renal cell carcinoma (RCC), retroperitoneal tumor, pseudomyxoma, splenomegaly, and ascites .We present a rare case of a 32-year-old woman with long-standing abdominal pain and swelling and who was diagnosed and treated for giant hydronephrosis secondary to UPJ obstruction.A thirty-two-year-old female patient presented with progressive abdominal swelling of two-year duration. The swelling started from the left side of the abdomen and progressed to involve the whole abdomen. The swelling became prominent since one year , with asLaboratory findings of the patient, including urine analysis, serum electrolyte, and hematology profile, were all in the normal range . During A diagnosis of giant left hydronephrosis was made and the patient was prepared for laparotomy. The abdomen was opened with a subcostal flank incision under general anesthesia. Upon entry, 9.5 liters of urine was drained, and a left nephrectomy was performed, which was sent for histopathology. The left ureter was explored and showed severe stenosis at the level of ureteropelvic junction . An intrth postoperative day, and the patient was discharged a day later with satisfactory clinical condition. Histopathologic examination of the biopsy showed a hydronephrotic kidney with no feature of malignant growth (She had a smooth postoperative course following the surgery. Her postoperative hematocrit was 21.7%, for which she was transfused with one unit of crossmatched whole blood. Her postoperative serum electrolyte and renal function test were also in the normal range. The intra-abdominal drainage was removed on the 5t growth .Giant hydronephrosis with accumulation of more than 9 liters of fluids is an uncommon phenomenon in adults. The first reported case of giant hydronephrosis was in 1746, and etiologies include ureteric obstruction of various causes congenital or acquired, intrinsic or extrinsic, including UPJ obstruction, both renal and ureteric stone disease, and malignancy . PatientThe first line imaging modality used was ultrasonography as a standard, and the typical finding includes hydronephrosis with a thinned out renal parenchyma. Other imaging modalities were needed to confirm the extension , 6. In aIn a patient with a nonfunctioning kidney with loss of renal parenchyma, the recommended treatment is a simple nephrectomy because of the anticipated complication . PercutaGiant hydronephrosis secondary to ureteropelvic junction obstruction needs to be considered in adults presenting with huge intra-abdominal cystic mass, especially if they have long-standing pain and progressive abdominal swelling. Imaging studies like CT or MRI are sufficient for diagnosing origin of the mass, but malignancy must be ruled by a histopathologic examination. Treatment of giant hydronephrosis depends on the age, underlying cause, patient clinical condition, and presence or absence of renal parenchyma.


This report describes an unusually delayed presentation of capsular bag distension syndrome (CBDS), which was found to be associated with Propionibacterium acnes (P. acnes) endophthalmitis. Our patient presented with a gradual decrease in vision after uneventful cataract surgery done 13 years back. On examination, there was a thick turbid fluid entrapped behind the intraocular lens (IOL). Ultrasound biomicroscopy (UBM) confirmed the presumed diagnosis. The case was managed by pars plana vitrectomy (PPV) with posterior capsulotomy, and the entrapped turbid fluid was aspirated and sent for histopathology, which revealed a positive growth of P. acnes. The patient had excellent outcomes with complete resolution post-operatively. Capsular bag distension syndrome (CBDS), or capsular block syndrome (CBS), is one of the rare complications of cataract extraction by phacoemulsification technique . It occuA 54-year-old medically free Saudi gentleman presented to our clinic complaining of a gradual painless decrease in vision of his left eye over one year. He also reported mild pain, photophobia, and redness from time to time. The patient underwent uneventful cataract surgery of both eyes 13 years prior to his presentation. The best-corrected visual acuity (BCVA) using a Snellen chart was 20/28 in the right eye (OD) and 20/400 in the left eye (OS). Slit-lamp biomicroscopic examination of the OD was unremarkable  has been classified based on the time of onset by Miyake et al. as intraoperative, early postoperative, and late postoperative CBDS. The intraoperative type occurs when the balance saline solution (BSS) entraps between the nucleus and the posterior capsular bag during hydrodissection maneuver, which might lead to posterior capsular rupture (PCR) and drop of the nucleus into the vitreous cavity. The early post-operative type  occurs within the first 15 days after the surgery, and it is mainly due to the accumulation of Ophthalmic Viscoelastic Device (OVD) between the IOL and the posterior capsular bag. The third CBDS type, late-onset post-operative, usually occurs months or years after the cataract surgery, with a mean incidence of 3.8 years, and it is mainly because of proliferative and metaplastic changes of residual epithelial and cortical cells which explain the appearance of the thick milky turbid fluid (lacteocrumenasia) in this type .According to this classification, our presenting case is considered a type 3 CBDS and it has three unique features. First, having the late presentation 13 years after uneventful cataract surgery. Second, surprising BCVA 20/400) compared to the patient's clinical picture of having dense turbid fluid with an absent red reflex. And third, having the associated symptoms of recurrent mild pain, photophobia, and redness with the dramatic resolution of these symptoms after the surgical management. To the best of the author's knowledge, up to date, there is only one reported case that described CBDS development after 14 years 00 compar,9. Upon The surgical approach by PPV with posterior capsulotomy was the preferred choice for our patient because of two reasons. First, we were unable to visualize the posterior capsule, making it difficult to perform the Nd:YAG laser posterior capsulotomy. And second, there was a high suspicion of associated P. acnes; therefore, violation of the posterior capsule by Nd:YAG laser might cause further dissemination of the infection into the vitreous cavity . Raina eTo conclude, we presented an unusual late presentation of CBDS associated with P. acnes endophthalmitis. Our case highlights the importance of considering this condition even years after uneventful cataract surgery. In most of the CBDS cases, Nd:YAG laser posterior capsulotomy is a safe technique to relieve this rare condition. However, the concomitant presence of P. acnes should be kept in mind. So, if there is a high suspicion of this infective organism, the surgical approach should be the choice, and Nd:YAG laser posterior capsulotomy is better to be avoided in such cases.


Consider primary bone lymphoma as an important differential diagnosis of osteomyelitis.In patients who are unresponsive to antibiotics and core needle biopsy result is incoherent with clinical symptoms, consider open biopsy for accurate diagnosis. Consider primary bone lymphoma as an important differential diagnosis of osteomyelitis. In patients who are unresponsive to antibiotics and core needle biopsy result is incoherent with clinical symptoms, consider open biopsy for accurate diagnosis. The diagnosis of (PB‐DLBCL) is based on both imaging and histopathologic findings. Tissue samples can be taken either percutaneously or via open biopsy.Few primary bone lymphoma cases have been reported in the literature. These cases are usually misdiagnosed, particularly with osteomyelitis. The symptoms often persist for many months before the patient seeks appropriate medical care.Herein, we describe a 34‐year‐old young man with persistent bone pain whose core needle biopsies were consistent with osteomyelitis; however, his open biopsy revealed PB‐DLBCL to be the underlying cause.2A 34‐year‐old man with no significant past medical or surgical history complaining of dull low back pain and non‐traumatic progressive right hip pain, which he had for 6 months was referred to our clinic. He described his pain as dull low back pain, and he also localized his hip pain on the anterior part of the right hip. The pain also radiated to the buttock and groin. His pain was also exacerbated by weight‐bearing activities and did not relieve even with rest or pain killers, such as morphine. The patient had been bedridden for a month as the pain had gotten excruciating. Meanwhile, the patient had no constitutional symptoms.The examination revealed decreased range of motion on his right hip joint and tenderness over the anterior joint line, adjacent soft tissue to the right hip joint was also swollen and asymmetric compared to the left side. Other physical exams were unremarkable.In the previous workup and admission 6 months before referral, the Magnetic resonance imaging (MRI) had demonstrated diffuse abnormal high‐intensity signals on T2 and proton density fat saturation in the right iliac and superior ramus of pubis was seen. This was accompanied by a high‐intensity signal on the peripheral soft tissue along with a periosteal reaction.Abnormal high‐intensity signals in the medulla of the femur and sequestration in the iliac bone were also reported.The imaging findings were suggestive for infiltrative disorders. A core needle biopsy under CT scan guidance was obtained from the lesion in the right acetabulum. The pathologic assessment reported unremarkable spongy bone with cellular marrow tissue and a benign lymphocytic aggregation.These findings were suggestive of osteomyelitis, and subsequently, he was treated with antibiotics, which turned out to be ineffective.Three months after the first admission as the pain had progressed, he has admitted again for further evaluation and the imaging revealed progression of the lesion. Figure .He became a candidate for another biopsy that showed inflamed fibro connective tissue and fibrin exudative substances, which were compatible with osteomyelitis. He was treated again with broad‐spectrum antibiotics for another 6 weeks.4/µl; lactate dehydrogenase (LDH) 355 IU/L ; AST 13 IU/L; ALT 16 IU/L; and C‐reactive protein (CRP) 25 mg/dl; (ESR) 32 mm/h.As the patient's overall health and symptoms showed no sign of remission, he was referred to our clinic for further evaluation. He was admitted and samples were taken. Laboratory results showed the following: white blood cell (WBC) count 5700/µl ; hemoglobin (Hgb) 11.5 g/dl; platelet count (Plt) 2.83 × 10For evaluating the lesions, a whole bone scan with TC‐99m was performed, which was suggestive for chronic arthritis and osteomyelitis in the sacroiliac joint. Right acetabular bone especially in the acetabular roof and the right iliac crest were also suggestive for probable bone tumors. Figure .According to the clinical findings and the fact that previous core needle biopsies were inconclusive and unhelpful, we decided to perform an open biopsy to rule out primary bone malignancies.The open biopsy of the lesion and the pathologic assessment suggested primary bone DLBCL.Immunohistochemical results were as following LCA+, CD20+, Bcl‐6+, Bcl 2+, CD3‐, MUM‐1+, CD99‐, vimentin‐, CD10‐, and Ki67+ (90%), this was consistent with DLBCL, non‐germinal center B‐cell like , and concurrent intrathecal chemotherapy with Cytarabin, methotrexate, and hydrocortisone. Meanwhile, he also became a candidate for radiotherapy (RT).3Primary bone lymphoma is a rare extranodal lymphoma, which accounts for 2% of all lymphomas and about 5% of bone tumors in adults.The majority of patients, pathologically diagnosed as diffuse large B‐cell lymphoma. Other subtypes found in a minority of cases include follicular lymphoma, small lymphocytic lymphoma, marginal zone lymphoma, anaplastic large cell, and Burkitt's lymphoma.It commonly develops in patients aged between 20 and 50 years, and the most common symptom is bone pain.In this article, we report a 34‐year‐old man who presented progressive hip pain and osteolytic bone lesions. He was later diagnosed with primary diffuse large B‐cell bone lymphoma, and previous studies had also suggested that osteomyelitis unusually mimics PB‐DLBCLSeveral rationales led us to believe that the previous workup session was insufficient, and another approach is needed to be taken. Hence, we decided to perform an open biopsy. One of the main reasons to do so was the fact that bone pain was progressive and unresponsive to the standard antibiotic regimen.On the contrary, radiologic changes, such as osteolytic lesions, were progressive and despite regular treatment for osteomyelitis the lesions progressed and contained sequestrum as the disease spread. This pattern of progress was also observed between the two MRI scans that were taken in the 6 months. These changes include an extraosseous extension of the lesion that had led to asymmetric soft tissue swelling. These patterns of change are usually seen with neoplastic lesions rather than infectious ones.In recent studies, it has been suggested that An ESR level of 60 mm/h is an optimal cutoff level for suspected osteomyelitis (74% sensitive and 56% specific). Our patient had ESR levels below the threshold; thus, osteomyelitis seemed unlikely.Other reasons such as lack of predisposing factors for osteomyelitis  and abrupt beginning of the symptoms made our case less probable for osteomyelitis. Being safer and almost equally accurate, it was suggested by the literature that a core needle biopsy is a more preferable method of obtaining bone tissue samples than an open biopsy. It is also both less invasive and cost‐effective.Unfortunately, though in our case core needle biopsy could not help provide an accurate diagnosis.We have come to conclude that the first two biopsies were taken from the rim of the lesion, thus making the sample redundant and inefficient. The result was only suggestive for non‐specific lymphocyte aggregation. In such circumstances, open biopsy seems suitable for patients who are highly suspicious of bone tumors and core needle biopsy is inconclusive and non‐diagnostic.4In brief, our case illustrates the difficulties in distinguishing primary bone lymphoma from osteomyelitis, as both have similar presentations, while the radiologic findings can overlap and mimic each other.Our experience with this case emphasizes the fact that for an accurate diagnosis, while the clinical manifestations and paraclinical findings are suggestive for malignancies and tumors (in this case lymphoma), the results from core needle biopsy are incoherent, and open biopsy should be considered.None declared.A.M. and M.M. contributed to data collection, writing, drafting of the manuscript, and critical appraisal of the manuscript. A.H, EP, and M.E. contributed to scientific writing and final revision.In this study, no additional costs and procedures were imposed on the patient. We reported the retrograde standard treatment process of the patient. We maintained the patient's privacy, and her written consent was obtained.The patient has consented to the participation of this case report.The participant has consented to the publication of this case report.


Persistent Mullerian duct syndrome is a rare entity and usually presents with common symptoms of undescended testis and hernia. The syndrome is caused by an insufficient amount of Mullerian inhibiting substance or due to the insensitivity of the target organ to Mullerian inhibiting substance. Polysplenia is a rare congenital disease manifested by multiple small accessory spleens. The association of these two entities, Persistent Mullerian duct syndrome and polysplenia, is rare and has not been reported in the literature. We reported a case of a 27 years old male presented with complains of right flank pain and nausea. Ultrasound showed right ureteric calculus with hydronephrosis and elongated soft tissue mass posterior to bladder. Contrast enhanced Computed Tomography showed soft tissue suggestive of infantile uterine structure with multiple splenculi and short pancreas. He was diagnosed as Persistent Mullerian duct syndrome with unilateral cryptorchidism, polysplenia and short pancreas, coincidentally detected while evaluating for ureteric colic. He underwent Ureteroscopic Lithotripsy with stenting for ureteric calculus, however, he refused laparotomy with excision of mullerian structures. Polysplenia, sometimes occurs, alone, but it is often accompanied by other developmental abnormalities. Conditions associated with polysplenia include GI abnormalities, such as intestinal malrotation, or biliary atresia, short pancreas, also cardiac abnormalities.We report a rare case of PMDS, associated with polysplenia, which has never been reported in the literature.A 27 year old male was presented to the emergency room with acute right flank pain and nausea. The patient is married and has two children. On examination, he was a healthy male with well developed scrotum. Single testis was palpated and there was right sided undescended testis. His urethra and penis were fully developed. Palpation of inguinal areas was unremarkable. The patient was evaluated by ultrasound which showed moderate right hydroureteronephrosis with ureteric calculus. Incidental note of an elongated soft tissue mass posterior to the bladder was made on ultrasound. Left kidney and urinary bladder were unremarkable .Further evaluation with contrast enhanced CT scan was performed. It showed right ureteric calculus and hydroureteronephrosis. There was a well defined soft tissue density mass measuring 7.8x3.0x2.1cm posterior to the bladder suspicious of an infantile uterine structure. The cervix was abutting the normal sized prostate . In addiKaryotyping was not done in the patient due to unavailability of the facility at the center. The patient underwent URSL with DJ stenting for right ureteric calculus. The patient was advised for the laparotomy and excision of the Mullerian structure, but refused to undergo second surgery.8 This rare entity portrays adolescents who are phenotypically males with 46, XY karyotypes. Such individuals contain internal female reproductive organs such as Mullerian derivatives, caused by a defect in genes. Mullerian and Wolffian ducts are present in human fetus which differentiates in a male fetus by the end of seven weeks of gestation. The genetic defects that occurred were either in genetic coding for the MIS/anti-Mullerian Hormone (AMH) or the AMH receptor, ultimately leading to failure of regression of Mullerian ducts.9PMDS is a very rare condition with less than 300 cases described in the literature.10 The second type is crossed testicular ectopia, which is characterized by herniation of both testes and the entire uterus and both fallopian tubes.10Male type and female type are two anatomic variants of PMDS that have been reported. The male form of PMDS is common, encountered in 80–90% of cases and characterized by unilateral cryptorchidism with a contralateral inguinal hernia. The male form of PMDS can be of two types. The first type is hernia uteri inguinalis, which is usually characterized by a descended testis and herniation of the ipsilateral corner of the uterus and the ipsilateral fallopian tube into the inguinal canal.10 The mobility of Mullerian structures is an important factor that determines the clinical presentation. If the uterus and fallopian tubes are mobile, they may descend into the inguinal canal during testicular descent. On the other hand, if the Mullerian structures are relatively immobile, testicular descent may be impeded.10The second anatomic variant of PMDS, the female form, is seen in only 10–20% of cases. It is characterized by bilateral cryptorchidism, with the testes fixed within the round ligaments in an ‘ovarian position’ with respect to the uterus. The gonads are fixed within the pelvis.11 Chamarajan et al. reported a case of seminoma with bilateral cryptorchidic male with PMDS. Embryonal carcinoma, yolk sac tumor and teratoma can occur in patients with PMDS.12 As these patients usually present with a unilateral disease there is a potential chance of preserving their fertility.Early diagnosis and surgical treatment is important to prevent sexual-maturation hypertrophy of uterus leading abdominal discomfort and mass secondary to accumulation of blood. The risk of malignancy is nearly 15% in an ectopic testis in a case of PMDS, similar to that in a healthy male.6 The precise aetiology of polysplenia is unknown. Embryonic, genetic and teratogenic components have all been implicated as causative factors in polysplenia.6 Although polysplenia syndrome has a wide range of abnormalities, there is no single pathognomic abnormality that characterizes this rare entity. The range of anomalies include multiple spleens of equal volume, visceral heterotaxia, right-sided stomach, a left-sided or large midline liver, malrotation of the intestine, a short pancreas and IVC anomalies.13Polysplenia, as part of the heterotaxy syndrome, is a rare embryological disorder with a reported incidence of 1 per 250 000 live births.14 Polysplenia is usually an incidental finding on abdominal ultrasound or CT performed for other causes. Other infrequently reported associations PSS are tracheo-esophageal fistula, renal anomalies, polydactyly, annular pancreas, choledochal cyst and intestinal atresias.15Polysplenia has been reported mainly in childhood owing to critical anatomic malformations related to cardiac defects or biliary atresia. Symptomatic polysplenia in adults is often caused by abnormal biliary and pancreatic duct drainage, cholecystitis and bowel obstruction.Association of polysplenia with PMDS is rare entity. This case was detected incidentally, while evaluating for acute ureteric colic. There are reports of various associations in PMDS, frequently undescended testis and hernia. In our case, the patient was phenotypically male with cryptorchidism. He was married with two children. On evaluation for the unilateral cryptorchidism, the testis could not be found in the pelvis and retroperitoneum. The patient do have a uterus, but it is of infantile type which is due to absence of oestrogen stimulation, an indirect sign indicating that there is no female hormonal production. Polysplenia was also incidental with multiple splenculi that is more than nine in number. In addition, short pancreas was noted in CT scan with absence of distal body & tail. Imaging modalities, ultrasound, CT and MRI were equally good in detection of the Mullerian abnormality and polysplenia. The developmental anomaly of these two entities, PMDS and polysplenia, could be synchronous without any linkage with embryological or genetical factors. However, such incidence of association has not been reported in the literature so far.JNMA Case Report Consent Form was signed by the patient and the original is attached with the patient's chart.None.


Vesicocutaneous fistulas (VCF) are abnormal tracts formed between the bladder and the cutaneous surfaces of the body. Although rare, it has been reported following radiotherapy to the pelvic region, surgery and trauma. We present a case of a 70-year-old male who underwent neoadjuvant chemoradiotherapy for the treatment of rectal cancer metastatic to the perineum prior to definitive abdominoperineal resection (APR). Six months later, he developed urinary retention secondary to bladder obstructive outlet disease. This was managed with urinary catheterisation and a month later with transurethral resection of the prostate (TURP). At outpatient follow-up, he complained of urinary leakage in the perineal region approximately 10 months post-chemoradiotherapy. He underwent a computer tomography (CT) cystogram which confirmed the findings of a VCF extending to his perineum scar. He was managed conservatively with successful outcomes using a multidisciplinary team approach. This is the first case of delayed VCF reported arising after chemoradiotherapy for locally advanced rectal colorectal cancer. A vesicocutaneous fistula (VCF) is a rare phenomenon where an abnormal tract forms between the bladder and the cutaneous surface of the body. Risk factors include trauma, bladder calculi, surgery and radiotherapy to the pelvic region -3. The oA 70-year-old man was diagnosed with rectal cancer and a single metastatic subcutaneous perineal deposit. He was treated with a five-week course of neoadjuvant chemoradiotherapy consisting of 50 Gy in 25 fractions, with the radiation field encompassing the perineal skin, followed by an abdominoperineal resection (APR) ten weeks later without any immediate surgical complications Figure . Six monThe development of VCF is often implicated by risk factors such as radiotherapy, surgery and trauma. Radiotherapy results in progressive microvascular injury, stromal fibrosis and impaired wound healing . This suVCF can be managed conservatively or surgically depending on the patient’s comorbidities and clinical presentation. Conservative measures include IDC insertion and percutaneous nephrostomies to allow adequate healing of the tract . UreteriTo the best of our knowledge, there are currently no reported cases of VCF arising after neoadjuvant chemoradiotherapy for locally advanced rectal cancer. A multidisciplinary team involving colorectal, urology and plastic surgeons is recommended if conservative measures fail. As discussed, there are multiple options to be considered in managing and treating the condition. These should be discussed with the patient and the decision made should be based on the patient’s comorbidities and expected outcomes.


Background: The aim of this paper was to assess and compare the accuracy of common magnetic resonance imaging (MRI) pulse sequences in measuring the lesion sizes of hepatocellular carcinomas (HCCs) with respect to the Milan criteria and histopathology as a standard of reference. Methods: We included 45 patients with known HCC who underwent contrast-enhanced MRI of the liver prior to liver transplantation or tumor resection. Tumor size was assessed pathologically for all patients. The MRI protocol contained axial T2-weighted images as well as T1-weighted imaging sequences before and after application of Gd-EOB-DTPA. Tumor diameters, the sharpness of lesions, and the presence of artifacts were evaluated visually on all available MRI sequences. MRI measurements and pathologically assessed tumor dimensions were correlated using Pearson’s correlation coefficient and Bland–Altman plots. The rate of misclassifications following Milan criteria was assessed. Results: The mean absolute error (in cm) of MRI size measurements in comparison to pathology was the smallest for the hepatobiliary phase T1-weighted acquisition  and largest for the T2w turbo-spin-echo (TSE) sequence . The misclassification rate regarding tumor size under the Milan criteria was lowest for the T2w half-Fourier acquisition single-shot turbo spin-echo sequence and the hepatobiliary phase T1w acquisition (each 8.6%). The highest rate of misclassification occurred in the portal venous phase T1w acquisition and T2w TSE sequence (each 14.3%). Conclusions: The hepatobiliary phase T1-weighted acquisition seems to be most accurate among commonly used MRI sequences for measuring HCC tumor size, resulting in low rates of misclassification with respect to the Milan criteria. Hepatocellular carcinoma (HCC) is the most common primary liver cancer in adults and the third leading cause of cancer-related deaths worldwide, with more than 700,000 newly diagnosed cases per year and an increasing incidence in western countries ,2. HCC h®) algorithm depends on the following size cut-off values: <1 cm, 1–2 cm, and >2 cm; to stratify the probability of an unclear lesion with arterial hyperenhancement being HCC [® classification recommends not measuring HCC size in the arterial phase, as diameters may vary due to differences in image acquisition timing and might be misconstrued by perilesional enhancement [Both for the diagnosis of HCC and its therapeutic management, in particular the eligibility for liver transplantation, measurements of HCC lesion sizes play a crucial role, and most guidelines define cut-off values on which their recommendations are based. For example, along with other imaging features, the liver imaging reporting and data system . The study protocol conformed to the ethical guidelines of the 1975 Declaration of Helsinki. No donor organs were obtained from executed prisoners or other institutionalized persons.We retrospectively measured the tumor size of HCC lesions in 45 patients on different preoperatively acquired MRI pulse sequences and compared these measurements with the histopathologically assessed tumor dimensions after surgery. Out of 114 patients with histologically proven HCC who underwent LT or tumor resection in our tertiary center for liver surgery, 61 patients did not meet the further inclusion criteria of dedicated preoperative liver MRI acquired in our hospital (27 cases) within 90 days prior to surgery (20 cases) with the use of liver-specific contrast agent (14 cases). Five cases with neoadjuvant local therapies, as well as three cases with ambiguousness in the assignment of HCC lesions detected in MRI and the histopathological assessment, were excluded—resulting in a total of 45 patients that constituted the final study group. Patient and clinical characteristics of this study group are summarized in The size of all liver specimens was measured at the Institute of Pathology at our hospital immediately after resection. Specimens were fixed in buffered formalin but not inflated with embedding medium before gross cutting. A pathologist with more than 20 years of experience (T.K.) aimed to cut the largest tumor section, usually in the center of the tumor mass, and measured the maximal tumor diameter using a straight metal rule. The initial gross measurement was re-evaluated at the time of microscopic evaluation of the tumor and the final size was noted in millimeters.MRI was performed on two different 1.5 Tesla scanners  using a 32-channel phased-array body and spine coil at the Department of Radiology at our hospital. The MRI examination involved T1-weighted (T1w) and T2-weighted (T2w) imaging sequences. T1w imaging was performed as T1w volumetric interpolated breath-hold examination (VIBE), both pre-contrast and in the arterial, portal venous, venous, and hepatobiliary phase 20 min after contrast injection. T2w imaging included a T2w turbo spin-echo sequence (TSE) and T2w half-Fourier acquisition single-shot turbo spin-echo (HASTE). This protocol is in line with published guidelines from the AASLD/EASL . DetaileFirst, a radiology consultant with 7 years of experience in abdominal imaging (MA) identified all HCC lesions on all available MRI sequences and evaluated their ambiguousness in the assignment to the histopathological reports. The assignment between MRI and histopathology was considered to be unambiguousness if only one HCC lesion was present both in the MRI and the pathology report or, in case of bi-, tri- or multifocal HCC, if there was a single lesion either in the right or left liver lobe, and if the histopathologic report clearly stated the locations of all measured HCC lesions and their belonging to the right or left liver lobe. The lesion was then marked on the MR images by drawing a region of interest around it. In the case of bifocal HCCs with one lesion in the right and left lobe, the lesion with the largest diameter described in the histopathologic report was chosen and marked.A radiology consultant with more than 15 years of experience in abdominal imaging (HK), blinded for the histopathologic reports and all available clinical information, measured the largest diameter of each marked HCC lesion on all available transverse MRI pulse sequences., Diameters were measured from outer edge to outer edge of each lesion. In case of encapsulation of lesions, the capsule was included in the measurement. Perilesional signal alterations that clearly represented perfusion alterations were excluded from the measurement. In case of central necrosis, nodule-in-nodule or mosaic architecture of the entire lesion was measured. Besides lesion diameters, the sharpness of lesions was rated on each sequence as 1 = sharply delineated or 2 = presenting with indistinct margins. Each sequence was furthermore visually evaluated for the presence of respiratory motion artifacts as 1 = non-existing/minor or 2 = severe, causing illegible images in which the measurement of lesion diameters could not be performed reliably.The number of misclassifications of each MRI pulse sequence was assessed separately as incorrectly staged inside of  or incorrectly staged outside of the Milan criteria . A lesion was considered to be inside the Milan criteria if (1) in cases with a singular lesion the tumor measured equal to or less than 5 cm, or (2) in case of up to three lesions, if each lesion measured equal or less than 3 cm. A lesion was considered to be outside the Milan criteria if (1) in cases with a singular lesion the tumor measured more than 5 cm, or (2) in case of bi- or trifocal lesions, if one of the lesions measured more than 3 cm. To avoid bias due to an unequal distribution of datasets, all examinations were excluded from this analysis if one or more MRI pulse sequence was missing .p values were two-sided and considered statistically significant at p < 0.05.All data were analyzed using commercially available software . To confirm whether continuous variables were normally distributed, the Kolmogorov–Smirnov test was applied for diameters in each of the measured MRI sequences . The size on each MRI sequence was correlated with histopathological measurements using Pearson correlation coefficients. Correlation coefficients (r) were considered to be non-existing for r < 0.20, weak 0.21–0.40, moderate 0.41–0.60, strong 0.61–0.80 and almost perfect > 0.80. Paired t tests were used to compare sequences in terms of the absolute error between pathology as a standard of reference and MRI measurements. Bland–Altman plots were used to assess agreement between pathologic and MRI measurements for each sequence. All The mean size of the 45 included HCCs based on histopathologic assessment was 7.2 ± 3.4 cm (range: 1.5 cm to 14.0 cm).The percentage of HCC lesions that were visible was highest for the arterial, venous, and hepatobiliary phase ). A total of 5 out the 35 patients were misclassified in at least one sequence . Within As seen in There is high demand for precise and valid radiologic size measurements of HCC, as most therapy regimens and in particular the eligibility for liver transplantation highly depend on the size of intrahepatic HCC lesions. While the OPTN/UNOS criteria define 5 cm as the cut-off value as the acceptable tumor size for transplant, the Milan criteria qualifies patients for LT only if there is a single intrahepatic HCC nodule ≤ 5 cm or up to 3 lesions between 1 cm and 3 cm ,9,10.® guidelines propose using the sequence in which the lesion is most clearly visualized whilst avoiding the late arterial phase, and the AASLD guideline provides no further specification regarding the MRI phase [Although MRI is considered to be the radiologic reference standard to detect and diagnose HCC, no conclusive recommendation has been announced by the leading societies as to which MRI sequence should be used when performing size measurements ,14,15,16RI phase ,12,16.Our study showed that HCC size measurements in MRI differ significantly between commonly used sequences and that this has an impact upon the rate of misclassifications of tumor diameter in consideration to the current guidelines for transplant eligibility. The T2w TSE and portal venous phase T1-weighted acquisition classified 14.3% of the lesions in an incorrect Milan category, whereas the T2w HASTE and hepatobiliary phase T1-weighted acquisition reduced this error to 10.8%. However, the T2w HASTE also had the lowest detection rate of HCCs in our study, and is therefore not suitable if the lesion is not visible in this sequence. On the other hand, the hepatobiliary phase T1-weighted acquisition offered the highest sensitivity for HCCs and additionally showed the best correlation with histopathological size measurements and a low rate of Milan misclassifications. Furthermore, in this phase, the lowest mean absolute error and the best image quality were achieved.In our study cohort, the arterial phase T1-weighted acquisition and T2w TSE sequence systematically overestimated HCC size . One possible explanation for this trend is hyperemic and edematous changes in the tissue surrounding the HCC lesions, which can appear isointense to the tumor on the arterial phase and the T2w TSE sequence. On the other hand, the T2w HASTE sequence slightly underestimated the HCC size (−0.13 cm). However, both trends were not statistically significant—possibly due to the low power of the current study, with only 45 patients. Further studies with a larger study cohort are necessary to confirm these findings. Furthermore, differences in size measurements between histopathology and all analyzed MRI pulse sequences might also be explained by volume alterations of tissue samples due to the histological fixation process.Seuss et al. have previously shown that the sizes of lesions vary between different MRI sequences and different phases in comparison to histopathologic results, with the highest accuracy in the portal venous phase . This coSevere liver diseases with impaired liver function such as cirrhosis or cholestasis can affect the validity of the hepatobiliary phase due to a reduced uptake of the contrast agent and altered signal intensity differences ,24. FocaOur data suggest that commonly used MRI pulse sequences differ in their accuracy in measuring HCC tumor size, with potential misclassifications following current guidelines for transplant eligibility. Consequently, our findings highlight the need of a consensus on how we measure HCC size to prevent unequal treatment of patients between different physicians, departments and hospitals.


We present the case of a 66-year-old male with a history of iatrogenic bladder injury and radiation therapy for colon adenocarcinoma 20 years prior. A computed tomography of the thorax, abdomen and pelvis, reported a presacral mass with invasion to the bladder, ureters and lymph nodes. An initial bladder biopsy was histologically inconclusive. A later biopsy taken during emergency bypass surgery for small bowel obstruction, while the patient was positive for coronavirus disease of 2019, concluded that the mass was a peritoneal mesothelioma of epithelioid origin. The combination management of cytoreductive surgery with intraperitoneal chemotherapy has been a near universal standard of care for epithelioid peritoneal mesothelioma provided that the patient is an appropriate candidate for surgical interventions. To the best of our knowledge, this is the first case report of malignant peritoneal mesothelioma as a second primary carcinoma, many years after exposure to radiation therapy for colon adenocarcinoma. Peritoneal mesothelioma is a rare and fatal malignancy accounting for 30% of all mesotheliomas, with a prevalence of 0.3–0.4 and 0.9–1.7 per 100 000 population among females and males .Although asbestos exposure remains the most significant risk factor, radiation exposure has been recently focused on. Advances in oncological managements have contributed to an increased life expectancy among cancer survivors leading to an increased in second primary malignancy incidences. Cases of mesothelioma as second primaries arising 10 years after radiotherapy have been reported in cervical and testicular cancers, but not after colon adenocarcinoma , 4.A 66-year-old-heavy male smoker, without asbestos exposure, had multiple hospital admissions for urological management after an iatrogenic bladder injury during an abdominal perineal resection for colon adenocarcinoma performed 20 years ago. He received radiotherapy after surgery and remained in remission.Secondary to radiotherapy, he had a reduced bladder volume, with resultant vesicoureteric reflux, bilateral hydronephrosis and episodes of acute on chronic kidney injuries requiring bilateral permanent nephrostomies insertion.During an admission for deep vein thrombosis post lithotripsy of urethral calculi, a computed tomography (CT) of the thorax, abdomen and pelvis showed an extensive mass in the presacral region with invasion of the urinary bladder and orifices of both ureters with enlarged lower paraaortic and pelvic lymph nodes . A urinaPseudomonas aeruginosa. During this admission, he also tested positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on a reverse transcriptase-polymerase chain reaction test.A repeat rigid cystoscopy to obtain further biopsies was planned. Unfortunately, in the interim, the patient presented again with urosepsis, related to his bilateral nephrostomies, for which he was treated with high dose meropenem and teicoplanin for While being treated for urosepsis in the coronavirus disease (COVID) ward, he complained of a 3-day history of inability to open bowels, decreased appetite and abdominal pain. He was lethargic, his abdomen distended and a digital stoma examination was unremarkable. Laxatives were administered to no effect.CT and magnetic resonance imaging (MRI) of the abdomen and pelvis indicated that a loop of small bowel was caught up in the pelvic mass resulting in a mechanical small bowel obstruction .An ileo-ascending colon bypass and change of nephrostomies were performed and fashioned in a COVID-dedicated operating theatre. During the procedure, the small bowel was found to be distended up to the ileum, without any evidence of ischemia or perforation. The distended ileum had entered the pelvic mass while the terminal ileum distal to the mass was collapsed. An ileul loop was anastomosed to the ascending colon and a biopsy from the pelvic mass was taken. Unfortunately, no images were taken during the procedure due to restrictions and limitations in the COVID theatre.The biopsy showed discohesive infiltrate of plasmacytoid neoplastic cells with eccentrically-placed, bland nuclei and abundant eosinophilic cytoplasm with occasional binucleate cells present.Immunohistochemistry showed strong and diffuse expression of WT1 and D2-40 together with more focal expression of calretinin, confirming a mesothelial phenotype. Strong and diffuse expression of BRCK, CK7 and vimentin were also seen with occasional cells express CD34 while Ki67 index was low. These findings were in-keeping with epithelioid mesothelioma without trace of sarcomatoid differentiation.An opinion was sought from a tertiary referral center in the UK for the possibility of extirpative surgery. However, the disease was surgically unresectable with curative intent and palliative chemotherapy was therefore offered. Due to the possible adverse effects and limited potential benefit, he opted for symptomatic and conservative management instead.Three months after the initial presentation, he remains with bilateral nephrostomies and had recently undergone another small bowel bypass for another episode of intestinal obstruction.Malignant peritoneal mesothelioma (MPM) is the second most common site for mesothelioma. However, it is an understudied disease as the majority of clinical studies focus primarily on the pulmonary variant. Mesothelioma commonly affects males aged over 65 years, smokers and those exposed to asbestos and radiation.According to a 2014 study, Malta had one of the highest mesothelioma rates behind the UK, Australia, the Netherlands and New Zealand at 2.08 per 100 000 men . Since tet al. in 2016 [MPM as a second cancer >10 years after radiotherapy was reported in a cohort study performed by Farioli  in 2016 , 4, 7.MPM has a poor prognosis of <5–12 months survival without treatment . ChemothA review article published in 2018 reported greater benefit from CRS, HIPEC and normothermic intraperitoneal chemotherapy long-term (NIPEC-LT) in combination, with a 5-year survival rate of 70% . Due to Hydroureter, bowel obstruction and large tumor size were concerning radiologic features seen in our patient. Hence, chemotherapy and palliative care were offered in line with the Peritoneal Surface Oncology Group International recommendations .


The incidence of pericardial epithelioid angiosarcoma is rare. Angiosarcoma of pericardium may coat the pericardium in a diffuse fashion. Diagnosis of an angiosarcoma is challenging and may be easily mistaken as constrictive pericarditis. Herein, a case of primary pericardial angiosarcoma is reported in a 16-year-old female. Patient presented with chest pain and dyspnea on exertion, regarded as constrictive pericarditis. Pericardectomy was performed and histopathologic examination showed pleomorphic epithelioid cells exhibiting hyperchromatic nuclei, prominent nucleoli and eosinophilic cytoplasm arranged in sheets and occasionally lined irregular vascular spaces. Moreover, immunohistochemical staining revealed that tumor cells were positive for CD31 and vimentin. The patient received chemotherapy with adriamycin, ifosfamide, and mesna. Unfortunately, the patient died of cardiac involvement and pleural metastases less than three months following the operation. Primary pericardial angiosarcoma is rare and difficult to diagnose, especially epithelioid variant. Immunohistochemical assessment is required to confirm the final diagnosis. Angiosarcoma, despite being the most common primary malignant tumor of the heart and pericardium, is itself an extremely rare tumor with a 0.001 to 0.003 % prevalence in an autopsy series . They ocWe report a 16-year-old female who presented to our institute with chest pain and dyspnea on exertion for one month. On admission, transthoracic echocardiography revealed a localized pericardial effusion. However, no obvious mass was identified either in the pericardium or in the heart. Left ventricular ejection fraction was normal (60%). Pericardiocentesis and drainage were performed with draining 800 mL of pericardial effusion. The patient’s symptoms improved after drainage of pericardial ﬂuid. Her dyspnea and pericardial effusion recurred after one month. On physical examination, her pulse rate, respiration rate, and blood pressure were 128 beats/min, 22/min, and 135/75 mmHg, respectively. An echocardiogram demonstrated pericardial tamponade, LV ejection fraction was 55%, visceral and parietal pericardium were irregular, with thickening. Constrictive pericarditis was more likely to be the diagnosis according to the cardiac ultrasound, and for this reason, the patient was taken to the operating room for pericardiectomy.Macroscopically, the specimen was a 5× 2.5× 2 cm soft brown tissue with no identifiable mass lesion. Histopathologic examination showed polygonal cells and some spindle-shaped cells arranged around the intercommunication blood vessels. The solid areas of epithelioid anaplastic cells with large pleomorphic, vesiculated nuclei, prominent nucleoli and abundant mitotic activity were present  and 2. TAngiosarcoma of the pericardium is a rare malignancy, and generally of a rapid progressive course. The prognosis is generally very poor even if the diagnosis is made at an early stage. Diagnosis and treatment of this kind of angiosarcoma would be challenging for clinicians because it often remains clinically silent until the disease is advanced. Most cases presenting with cardiac tamponade can be easily mistaken with constrictive pericarditis . EchocarWe described a case of a patient with primary pericardial epithelioid angiosarcoma who presented with recurrent pericardial effusion and rapidly progression in a short period. Our case indicated that unexplained pericardial effusion in younger patients should prompt the clinician to seek for a malignant process etiology. Echocardiography, although frequently is performed, could be associated with limited utility in the evaluation of primary pericardial angiosarcoma. Tissue biopsy and immunohistochemical assessment is required to confirm the final diagnosis.


Neuroendocrine tumors of the gastrointestinal tract and pancreas include a range of rare and diverse neoplasms with unique tumor biology, natural history, and clinical management. Neuroendocrine tumors of the ampulla of Vater are extremely uncommon cancers that account for only about 0.3%-1% of all gastrointestinal neuroendocrine tumors. Approximately 139 cases have been reported to date. In this paper, we describe two patients with low to intermediate grades of ampullary neuroendocrine tumors that underwent multiple courses of chemotherapy with Capecitabine (Xeloda®) and Temozolomide . Our two patients had a dramatic response to this regimen. According to our study, it seems that ampullary neuroendocrine tumors have behavior like pancreatic neuroendocrine tumors which requires further studies in more patients.  Neuroendocrine tumors (NETs) have been detected in the esophagus, stomach, duodenum, small bowel, pancreas, colon, rectum, bronchus, ovary, testis, larynx, and biliary tract, and may differ in their response to treatment depending on their site of origin ,2. NETs Case 1the first case was forty years old female. The patient complained of itching and mild epigastric pain that started 2 weeks before referring to our hospital. Past medical history was unremarkable. She had a history of gastric adenocarcinoma in her father who died two years after diagnosis (the time of third debulking surgery). Physical examination revealed a generalized Jaundice. Laboratory findings showed the total and direct levels of bilirubin 17.3 and 11.3 mg/dl, respectively. In the endosonography, there was a 25*30 millimeters (mm) hypoechoic mass lesion at the ampulla and a 10-mm regional lymphadenopathy. Endoscopy showed ulcerative vegetative 22*17 mm lesion around the ampulla where biopsies were taken. Pathological examination suggested a well-differentiated NET (Grade 2) confirmed with Immunohistochemical (IHC) study which was positive for Synaptophysin, Chromogranin A (127). In this examination, Ki-67 was 4%. Computed tomography (CT) scan showed a periampullary mass (30*50 mm) resulted in extrahepatic and intrahepatic biliary dilatation. The maximum diameter of the common bile duct (CBD) was measured at 14 mm. The mass only partially touches the portal vein without a definite sign of invasion. During three months, she received three courses of chemotherapy with Capecitabine (Xeloda®- Roche company - 750 mg/m2- Two weeks of every three weeks) and Temozolomide  with a partial response based on RECIST criteria on CT scan. After three months, Whipple surgery was performed with complete R0 resection. In four years of follow-up, she was in clinical remission. But finally, liver metastasis was seen in abdominopelvic sonography. Case 2A fifty-eight-year-old male with epigastric pain and weight loss. The result of endoscopy was gastritis with a small polyp in the antrum. Biopsy showed chronic gastritis and no true polyp structure was noted. Abdominopelvic sonography demonstrated a hypoechoic mass at the ampulla of Vater with common bile duct (CBD) and intrahepatic dilatation. CT scan revealed intrahepatic and extrahepatic bile ducts ectasia and gallbladder dilatation. Homogenous isodensity mass of the ampulla of Vater causing atrophy of the pancreas was noted. In endosonography, a mixed echoic lesion was detected at the ampulla of Vater with adhesion to the portal vein, superior mesenteric artery, and superior mesenteric vein. Biopsy of the ampulla of Vater through endoscopic retrograde cholangiopancreatography (ERCP) was performed; Pathological examination demonstrated well-differentiated NET (grade 2) of the ampulla of Vater. The IHC study was positive for Chromogranin A, Synaptophysin, CEA, and Ki-67 was 15%. In Octreoscan, a large zone of an abnormal collection of radiotracer was seen in the right upper quadrant of the abdomen, below the caudate lobe, probably the ampulla of Vater. During eleven months, he received eleven courses of systemic chemotherapy with Capecitabine (Xeloda®- Roche company- 750 mg/m2- The first day to the fourteenth day) and Temozolomide . After five courses of chemotherapy, he had a partial response to treatment and he did not accept surgery on cycle five. But eventually, on cycle eleven, the surgery was performed upon the patient's agreement. Pathological staging was carried out to complete R0 resection. In seven years of follow-up, he is still in clinical remission.NETs represent 0.5% of all cancers; however, their incidence has risen in recent years, probably due to the increased frequency of healthcare examinations and improvements in diagnostic techniques . NETs caClinical presentations consist of jaundice, nonspecific upper abdominal discomfort, acute pancreatitis, weight loss, and upper gastrointestinal bleeding; but the leading symptom in approximately two-thirds of the patients is jaundice ,8.In addition to clinical findings, abdominal tomography, ERCP, endoscopic biopsy, and endosonography are also valuable in the diagnosis and detection of invasion depth; also, CT scans and octreotide scans are helpful in metastatic workup ,7. StainANETs are so rare, so significant questions regarding their natural history remain unanswered . Common Optimal treatment for localized PNETs is surgical resection and for tumors that are too advanced to surgically resect, some chemotherapy regimens are effective. Recent studies examined the role of Capecitabine (Xeloda®) and Temozolomide  combination in well-differentiated and unresectable pancreatic neuroendocrine tumors (PNETs) and showed a high response rate -18. SuniAccording to one study, a patient with a metastatic neuroendocrine tumor of the ampulla of Vater underwent chemotherapy with Sunitinib (Sutent®) and complete remission was achieved ; and as Based on the above argument, and good responses of patients to Capecitabine and Temozolomide, it seems that ANETs have behavior like PNETs requiring further studies in a larger number of patients.The authors declare that they have no conflict of interest.


Delayed diagnosis of congenital heart disease (CHD) causes significant morbidity and mortality. We aimed to determine the proportion of delayed diagnosis of CHD and factors related to the delayed diagnosis.< 18 years with newly diagnosed CHD and echocardiography confirmed CHD were included. Data were recorded from medical records and interviews from direct caregivers. Logistic regression was used to identify independent factors associated with the delay.A prospective cohort study with mixed-methods was conducted in Dr. Sardjito Hospital, Yogyakarta, Indonesia. Patients aged n = 454). The proportions of delayed diagnosis were 60.8% (510), 54.9% (373) and 86.2% (137) in all children with CHD, acyanotic and cyanotic CHD, respectively. Delayed diagnosis by doctor was the most common cause, followed by delayed diagnosis related to midwifery care, financial, referral/follow-up, and social factors. In multivariate analysis, cyanotic CHD, residence outside the city, non-syndromic, low family income, normal labour and at term gestation at birth were independently associated with the delay. At diagnosis, heart failure and pulmonary hypertension occurred in 414 (49.4%) and 132 (15.8%) children with CHD, respectively.A total of 838 patients were included with median age of 2.9 years (0–17.7 years), with female predominance (54.2%, Six in ten children with CHD were diagnosed with significant delay. Delayed diagnosis by doctor was the most common cause. Children with cyanotic CHD, residence outside the city, non-syndromic, low family income, normal labour and at term gestation at birth were independently associated with the delay. Comorbid complications in delayed diagnosis of CHD were prevalent. Congenital heart disease (CHD) is the most common congenital malformation worldwide. Approximately, 1 in every 100 babies are born with CHD, with 1 in 4 births with critical CHD , with apDelayed diagnosis of CHD causes significant morbidity and mortality . DelayedProper diagnosis of CHD is defined when the patient does not need emergency management at the onset of diagnosis, when treatment does not carry high risk, when there is no need for different management, or when the patient has better outcome if treated earlier. Delayed diagnosis of cyanotic CHD is when children with CHD are diagnosed after sent home from the birth clinic or hospital. Concerning acyanotic CHD, delayed diagnosis is defined when the children were diagnosed when cardiac surgery or intervention should have already been performed , 7.Delayed diagnosis in congenital heart disease is prevalent globally both in high-income and low- and middle-income countries. One study in a high-income country revealed the proportion of delayed diagnosis was 8.9% including in cyanotic CHD of 10.4% and acyanotic CHD of 8.7% [Data in Indonesia concerning children with delayed diagnosis of CHD are limited. Given the existing burden of CHD in low- and middle-income countries, it is necessary to identify the magnitude of delayed diagnosis and factors associated with the delayed diagnoses in children with CHD. Accordingly, this study aimed to determine the proportion of delayed diagnosis of CHD in children and factors associated with the delay in Yogyakarta, Indonesia.A prospective cohort study using mixed methods with quantitative and qualitative data was conducted at the Pediatrics Department of Dr. Sardjito Hospital in Yogyakarta, Indonesia. Patients aged < 18 years old with newly diagnosed CHD between 1st February 2016 to 31st July 2017, and echocardiography-confirmed CHD were included in the study. Defects were classified into cyanotic or acyanotic CHD. Data were collected from medical records.Patients with delayed diagnosis in cyanotic CHD were defined as newborns discharged from their birth clinic or hospital without a CHD diagnosis. For acyanotic CHD, a delayed diagnosis was defined as patients with acyanotic CHD diagnosed at an age where elective cardiac repair should have already been performed or in case immediate treatment was indicated because of the patient’s hemodynamic status , 7. The The reasons associated with delayed diagnosis of CHD were obtained through interviews using open-ended questions from direct caregivers including patient’s mother, father or guardian. The caregivers were interviewed to describe their background and identify the various factors associated with delayed diagnosis such as delayed diagnosis by doctors, routine midwifery care, delayed referral/follow-up, social or financial factors. The interviews were conducted directly at the onset of diagnosis since 2017, but for patients recruited in 2016 the interviews were done retrospectively over the phone. The definition of delayed diagnosis of CHD used was from a previous study . DelayedDelay in referral was defined as the time from the doctor  to definite diagnosis, or suspected of CHD to refer to tertiary health care. Delay related to social factors was defined as any personal, cultural and spiritual beliefs that influenced the delayed diagnosis or treatment of CHD after seeking medical attention. Delay related to financial factor was defined as economic factors that influence delayed diagnosis or treatment of CHD after seeking medical attention . We also2 test and p < 0.05 was considered to indicate statistical significance.Data analysis used STATA version 12.1 . Data are presented as means and standard deviations or medians and minimum-maximum or proportions, as appropriate. We did a Kruskal-Wallis test to compare the median of two group. The significance for all categorical variables was assessed using the xWe did a thematic analysis using the interview data. We first searched for patterns or themes across the different interviews. We then reviewed, defined and named the themes. The themes were related to the reasons of delay diagnosis whether by doctors, midwifery care, delayed in referral, financial or social factor. Finally, reasons associated with delayed diagnosis of CHD were presented thematically based on the top ten common reasons.2 test and p < 0.05 was considered to indicate statistical significance in the univariate analysis. Multivariate logistic regression analysis was conducted to determine the factors independently associated with the delay. All potential factors which were significant in the univariate analysis, were selected and entered into a multivariate analysis and reported as odds ratios and 95% confidence intervals. The Medical and Health Research Ethics Committee of Universitas Gadjah Mada, Indonesia approved this study (KE/FK/0750/EC2020).The potential factors associated with the delay included epidemiological and clinical variables. The following were evaluated as potential factors associated with the delay: male sex, cyanotic CHD, referred from other hospitals, residence outside the city, non-syndromic, maternal education < 12 years, low family income, normal labour and at term gestation at birth. Univariate analysis was done to determine the significance and strength of the association between each factor and the delay. The significance for all categorical variables were assessed using the XA total of 838 children with CHD were recruited. Table n = 510), only 382 (74.9%) were successfully interviewed concerning the reasons for delayed diagnosis. Those qualitative data were categorized into several groups as shown in Table Out of all patients with delayed diagnosis of CHD  could spontaneously close since she looked healthy.”“I did not believe that my child had CHD since she looked OK.”“I never saw the healthcare workers since my child never complained of being sick.”“I decided giving her an alternative medicine rather than seeing the doctor.”Our interviews revealed the top ten common reasons of delayed diagnosed reported by the caregivers.A total of 9 factors were analysed to estimate the delayed diagnosis in children with congenital heart disease. Univariate analysis identified 8 factors which were significantly associated with the delay including children with cyanotic CHD, referred from other hospitals, residence outside the city, non-syndromic, maternal education ≤ 12 years, low family income, normal labour and at term gestation at birth. By multivariate analysis, children with cyanotic CHD, residence outside the city, non-syndromic, low family income, normal labour and at term gestation were factors that remained independently associated with the delayed diagnosis Table .Table 4n = 615, 73.4%). Table Children with CHD and delayed diagnosis or late presenters tended to present with several complications n = 61, 73.4%. The main finding of this study indicated the proportion of delayed diagnosis in children with newly diagnosed CHD reached 6 in 10 children with CHD. A previous study in a low- and middle-income country showed similar results, where delayed diagnosis among children with CHD was 85.1% including 65.3% with acyanotic CHD . These dIn our study, the proportion of delayed diagnosis of CHD was higher in cyanotic than acyanotic CHD. This result is different from previous studies , 11. ButOne of the reasons why the delayed diagnosis was more common in cyanotic CHD than acyanotic CHD because the appearance of cyanosis depends on the hemoglobin level. In CHD with normal hemoglobin level, cyanosis will appear when the reduced hemoglobin reaches 3 g/dl or about 20% desaturation. In specific conditions such as polycythemia, 15% reduced hemoglobin might cause visible signs of cyanosis. Interestingly, cyanosis does not appear until arterial oxygen saturation is reduced to 50% in children with marked anemia, which may explain why not all children with cyanotic CHD showed cyanotic signs .Cases with critical CHD were 22.8% (191/838) with the proportion of delayed diagnosis of critical CHD of 85.9%, higher than US studies which indicated the prevalence of late detection varies widely (from 7.5 to 62.0%) in critical CHD .One study in high-income countries reported the decline in late referrals of cyanotic CHD patients is attributable to national neonatal Pulse Oximetry Screening (POS) recommendations . NeonataOur findings show diagnosis of CHD in most patients was delayed because of delayed diagnosis by doctor (57.5%), delays related to midwifery care (14.4%), financial factors 9.7%), delays in referral and follow-up (9.2%), and social factors (9.2%). Rashid et al. similarly reported the most patients had delayed diagnosis of CHD because of the delayed first consultation with doctor (37.2%), delayed diagnosis by health professionals (22.5%), delayed referral/follow-up (13.3%), social factors (13%), financial constraints (12.3%), and religious beliefs (1.7%) [.7%, delaDelayed diagnosis by doctor was the most common cause of delayed diagnosis of CHD, defined as the time from first consultation to doctor  to definite diagnosis and treatment of CHD or suspected CHD . In primAdditionally, our study revealed 14.4% of patients with delayed diagnosis, routinely received midwifery care. Most deliveries in Indonesia 62.7%) are attended by midwives .7% are a.Social factors such as health illiteracy about the disease severity, disease perceptions and stigmatization can slow the advanced treatment. Financial factors such as lack of health insurance complicate this situation. Our study revealed that some caregivers preferred to seek alternative medicine instead of a doctor. This use of traditional remedies is common throughout Indonesia. Understanding Indonesia’s diverse local wisdom is crucial for proper program planning and treatment.Another barrier that delays CHD diagnosis is delayed referral. Referral in cardiac problems is crucial due to the complications’ unpredictability and their potential to progress rapidly to become severe and life-threatening. Neonatal and child deaths can be prevented if referral systems were structured and in place to allow neonates and children with CHD to reach appropriate health services. Reducing Indonesia’s persistently high neonatal and child mortality rates requires understanding of the neonatal and child referral patterns to inform strategic planning to improve the present referral system.Children with cyanotic CHD, residence outside the city, low family income, non-syndromic, normal labour and at term gestation at birth were independent factors associated with the delay diagnosis in the multivariate analysis. Timely access to the tertiary hospital for diagnosis of CHD may be hindered when the family income was low and they resided in the rural areas. The delay may be associated with delay in transportation or delay in getting the care in hospitals. Delay in recognition by the parents or health care workers may occur when the children born normally and at term with no obvious genetic syndrome. Many factors including poverty, illiteracy, inadequate health facilities, inappropriately trained health professionals at primary care level, and lack of antenatal care were significantly associated with delayed diagnoses of CHD .Delayed diagnosis of children with CHD significantly affects the outcome. Children tend to present with several complications at the onset of diagnosis. In our study, about half of the children with CHD presented with congestive heart failure. These findings were higher than data reported by Mocumbi et al., reporting only 8.8% of patients with heart failure at the CHD diagnosis . Heart fAbout 15.8% of patients with CHD had pulmonary hypertension, a condition characterized by elevated pulmonary arterial pressure often resulting in right ventricular failure. Pulmonary hypertension was associated with worsening outcome in children with CHD . About 7These complications will potentially increase the morbidities and mortality , 24. AccThis study has some limitations. The data were collected from a single tertiary hospital, which included only patients treated in this referral facility. The results may not reflect the true proportion of delayed diagnosis of CHD in the community. Another limitation is that only 74.9% of were successfully interviewed regarding delayed diagnosis. This could have affected the study results. Despite these limitations, our study is among the first reports showing the high incidence of delayed CHD diagnosis in Indonesia.Our study found six in ten children with CHD had delayed diagnosis. Delayed diagnosis by doctor, delays related to midwifery care, financial factors, delays in referral/follow-up, and social factors were the reasons for the delayed CHD diagnosis. Children with cyanotic CHD, residence outside the city, non-syndromic, low family income, normal labour and at term gestation at birth were independent factors associated with the delay diagnosis.


Subdural contrast extravasation (SCE) is a rare and possible complication following the intravascular injection of a contrast agent. We report a case of interhemispheric SCE detected by computed tomography (CT) after percutaneous coronary intervention.A 71-year-old man suddenly lost consciousness and fainted 2 hours prior with a head trauma history. Percutaneous coronary intervention was performed on the second day.Head CT findings showed that the anterior longitudinal fissure of the brain was banded with high density and was uneven in thickness. The edge of the falx side of the brain was straight, smooth, and sharp, and the edge of the brain parenchyma was clear, without obvious edema or a space-occupying effect.Ticagrelor was given as an antiplatelet therapy; analgesic, antispasmodic symptomatic and supportive treatment was also administered.Two days later, the band-like high density between cerebral hemispheres was completely absorbed, and the patient's condition improved and his headache resolved.SCE is relatively uncommon during or after the intravascular injection of contrast media. Familiarity with the clinical features and CT findings of SCE may increase clinicians’ awareness of this disease, thus avoiding potential misdiagnosis and mistreatment. Here, we report on a case of interhemispheric SCE shares similarities with interhemispheric subdural hematoma (IHSDH) following percutaneous coronary intervention. We reviewed the previous literature to explain this rare phenomenon and improve upon the available knowledge on and diagnosis of SCE. Written informed consent was obtained from the patient for the publication of this case report and any accompanying images.Subdural contrast extravasation (SCE) is a rare and possible complication that can arise following the intravascular injection of a contrast agent. Its manifestations are similar to subarachnoid hemorrhage (SAH) or acute subdural hematoma (ASDH). The difference between these different conditions is of great significance for treatment.2+5.56 mmol/L), metabolic acidosis, and abnormal renal function.A 71-year-old man suddenly lost consciousness and fainted 2 hours prior to admission, which was preceded by a history of trauma to his head. The patient experienced a headache and discomfort after waking. He had a history of hypertension, diabetes, hyperuricemia, gout, hyperlipidemia, and atherosclerosis. Blood biochemistry and blood gas examination showed hyperkalemia (KComputed tomography (CT) of the head revealed a small, left parietal subcranial hematoma Fig. A 2 hoursThe patient felt an obvious headache after operation. Postoperative head CT re-examination Fig. D showed 3SCE is rare and refers to the leakage of contrast media into the subdural space during or after intravenous injection of contrast media. When the contrast agent appears between the 2 cerebral hemispheres, its manifestations are similar to ASDH or SAH, and the difference between these conditions is of great significance in the treatment of patients. In clinical settings, SCE is less specific and can be difficult to distinguish from IHSDH or SAH; as such, it is essential to exclude SCE by imaging examination.Contrast agent extravasation into the cerebrospinal fluid or brain parenchyma is usually asymptomatic, or it can manifest as encephalopathy, seizures, cortical blindness, and focal neurological deficits, such as ophthalmoplegia. Neurological findings generally appear 2–12 hours after contrast injection. is higher than that of hematomas , the attenuation values are higher for extravasated contrast than for blood. It has been reported,7 that the CT value of extravasation contrast agent (range: 91–274 HU) exceeds that of hematoma (range: 28–92 HU). When the CT attenuation value is > 100 HU, it can be directly diagnosed contrast agent extravasation. Although the contrast agent is diluted in the cerebrospinal fluid or in cases of preexisting effusion, it can result in a reduction of the CT attenuation value. The CT value in this case was 65 HU, which rendered it difficult to achieve a definitive diagnosis.Noncontrast CT is of great value when differentiating between SCE, IHSDH, and SAH. The radiological features of extravasated contrast medium include diffuse hyper-attenuation of the cortical parenchyma without an evident relationship to a particular vascular territory. Since the CT attenuation value of contrast agents in the blood –11 In this case, the hyperdensity was located in the anterior longitudinal fissure and featured a smooth edge. Therefore, SCE should be considered first, and short-term follow-up is recommended to exclude ASDH. CT examination can demonstrate whether the contrast agent in the subdural space resolves within 24 to 72 hours; the time of complete clearance of subarachnoid blood or ASDH is usually longer. Contrast media-induced neurotoxicity has been reported as transient and rapidly reversible. It usually appears soon after the administration of a contrast agent. In this case, the subdural high density in the cerebral hemisphere was found early after the percutaneous coronary intervention, and the high density disappeared completely within 24 hours. In addition, the patient had a history of percutaneous coronary intervention, so we took SCE, rather than ASDH, into consideration. The CT manifestations described herein can be used as points for identification.Noncontrast CT shows that SAH produced anterior interhemispheric hyperdensity only, with a zigzag contour and extension from the calvarium to the rostrum of the corpus callosum. A long, thin band of increased attenuation in the region of the falx cerebri  has been regarded as evidence of SAH. However, IHSDH produces unilateral crescentic hyperdensities that are greatest in the posterior superior part of the fissure, located behind and above the splenium of the corpus callosum with a flat medial border and a convex lateral border. Shorter, wider, crescentic configuration or wedge-shaped interhemispheric fluid collections of blood-equivalent attenuation have been considered representative of IHSDH. Despite the density of the contrast material flooding the subarachnoid space, there is no change to the appearance of the posterior fissure combination.–16 believe that SCE is related to the disruption of the blood–brain barrier (BBB). When a contrast agent is injected into the artery, it causes transient osmotic destruction. Severe hypertension and atherosclerotic embolism secondary to coronary intervention can cause cerebral ischemia. When cerebral ischemic injury exists, the BBB may break down, and the intravascular contrast agent can penetrate it and leak into the subdural space. It has also been reported that the increased permeability of contrast media is caused by temporary dural vascular rupture, which is due to the neurotoxic effects of highly permeable contrast media or vascular injury caused by hypertension, ischemia, or hypoxia. As such, the contrast media can diffuse into the subdural space through the ruptured dural vessels.,2,6 Most patients do not have SCE following coronary angiography examination. However, in this case, cerebral ischemia, the neurotoxic effects of a hyperosmolar contrast agent, and invasive nature of coronary angiography potentially led to a temporary vascular injury that affected the BBB and resulted in dural blood vessel rupture. This ultimately led to the leakage of the contrast agent into the subdural space. In addition, the patient had a prior history of a minor trauma injury of the head. Although there were no obvious signs of bleeding, the BBB is likely to be damaged. Contrast agent may enter the subdural space through the damaged BBB upon the intracoronary injection of contrast agents.The mechanism of SCE is still unclear. Many scholars–19 is advantageous as it can identify the attenuation differences between 2 energies; thus it can differentiate between iodine contrast medium and hematoma, and can facilitate the detection of contrast media. However, this new technology has not been routinely carried out in our hospital. As such, we hope that we will be able to apply energy spectrum CT when encountering similar cases in the future.This report has several limitations. Dual-energy CT, a relatively new technology,In conclusion, SCE is uncommon, but the possibility of SCE should be considered in cases where there is an accumulation of subdural contrast media during or after intravascular injection of said media. Finally, it should be noted that specific imaging findings, including a smooth and clear boundary, a high CT attenuation value, and density changes on short-term follow-up can also aid in achieving an accurate diagnosis.Validation: Kefu Liu.Visualization: Jian Huang, eryan Sheng.Writing – original draft: Jinghua Chen, Ping Xie.Writing – review & editing: Jinghua Chen, Kefu Liu.


Temporomandibular joint ankyloses (TMJA) may manifest in patients with several predisposing systemic conditions. A case of extraarticular TMJA is presented in a patient diagnosed with fibrodysplasia ossificans progressive (FOP) is presented. The features, diagnosis, and management of TMJA superimposed on this condition are presented through a qualitative systematic review of literature. Fibrodysplasia ossificans progressive (FOP) is a rare cause of temporomandibular joint ankylosis (TMJA). Temporomandibular joint ankylosis in FOP is an absolute contraindication for surgery since surgery  may lead to recurrence and exacerbation of the condition. Atraumatic dental treatment, preventive dentistry, and genetic counseling must be included in the management protocol.  The diagnosis by the GP was acute apical periodontitis of tooth 38 but only symptomatic treatment could be instituted due to the restricted mouth opening. On elucidation of relevant history, the patient developed restriction in the mouth opening 30 years ago after sustaining trauma to her back after slip and fall‐off stairs. She concurrently started developing gradual restriction in the movement of neck, shoulders, legs, and back leading to difficult daily activities. She experienced intermittent pain in relation to her left lower III molar, which was managed symptomatically over a period of 5 years. She was diagnosed with bilateral knee osteoarthritis and was on conservative symptomatic management for the same; no other contributory medical, surgical, dental, treatment or personal history was evident. She was not a product of a consanguineous marriage, and there was no family history of the disease.3All systems were normal on routine examination. Vital signs were within normal limits. She had a kypho‐scoliotic appearance with complete restriction in the neck and back movements in all three dimensions Figure . Neck wa4All routine hematological and serum biochemical investigations were within normal limits, especially erythrocyte sedimentation rate, C‐reactive protein, and serum alkaline phosphatase were unremarkable. Radiographic examination with non‐contrast computed tomography revealed multifocal heterotopic soft tissue ossification and pseudo exostosis predominantly involving the posterolateral aspects of bilateral chest wall (right > left), extending caudally as a plaque‐like ossification in the dorsolumbar region. Synostosis were seen between multiple ribs, vertebral bodies and posterior elements and bilateral scapula Figures  and 6. DOrthopantomogram revealed flattening and notching of condylar head on the left side Figure . NCCT n.5Correlating the history and clinical findings overlapped on the radiological picture of extraarticular ankylosis, the patient was diagnosed of having fibrodysplasia ossificans progressiva (FOP). The patient was counseled for palliative management and was taken up under general anesthesia for the extraction of teeth 38 and 45 through the buccal approach. Post‐operative period was uneventful. No worsening of her existing mouth opening was seen after a follow‐up of 1 year. The patient and her daughter were counseled for genetic testing, but both denied the same.6Systematic review of literature was conducted to review the characteristics of maxillofacial involvement and treatment strategies for the restricted mandibular movements (RMM) in patients with FOP. The study was exempted from Institutional ethical committee approval.7Case reports, case studies, case series, retrospective studies, prospective studies, observational studies, randomized control trials, and non‐randomized control trials with specific information on the involvement of maxillofacial region and RMM were included in the review. Articles in English or with English translation were preferred. No publication date or publication status limits were applied.8Studies on FOP patients with no specific details on maxillofacial involvement or RMM were excluded.9A systematic electronic search of PubMed, Medline‐Ovid, Springer Link, Embase, Scopus, Science Direct, and Cochrane Database was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses (PRISMA) statement on November 16, 2021 for articles in English Figure . A manua1062 articles were scanned after removing duplicates for relevance and availability of specific information related to restriction of mandibular movement (RMM) in FOP. 32 articles were excluded due to insufficient information, language other than English or due to the irrelevance to the topic. The 30 articles included in the review are presented in Table The following are the important observations from the literature review: In patients with FOP, the age of onset of RMM is variable, some manifesting even congenitally. However, most of the patients manifest RMM during the second decade of their life. There is a very slight female preponderance of FOP patients with RMM . Most of the patients have been pre‐diagnosed with FOP when they report with RMM, but delayed diagnosis or previous misdiagnosis is a common feature. The onset of RMM may be spontaneous or post‐trauma . The most common dental manifestation includes multiple decayed teeth with or without abscess formation. The most common cause of RMM in FOP is extraarticular ankylosis but classic TMJ Bony ankylosis is also evident in some cases. Extraarticular ankylosis also present with condylar flattening and tendency to bifid condyle on radiographic examination. Mandibular retrognathia has been reported in some cases but the same fails to be mentioned in most of the reported cases possibly due to the later onset of TMJA. Great toe malformation (GTM) is found in a large majority of patients, but the phenotypical expression is variable and therefore is not pathognomonic of the disease. FOP patients with RMM always had other joint involvements with restricted movements except in a familial cluster of patients with exclusive maxillofacial involvement. Majority of the patients were deferred surgical management while in those patients in whom surgery was attempted, recurrence of TMJA was inevitable, fast, and more debilitating. Most of the patients underwent palliative treatment with dental extractions, restorations, or endodontic treatment under general anesthesia (GA). Preventive measures like topical fluoride application, oral hygiene instructions, and oral prophylaxis have also been instituted.11Temporomandibular joint ankyloses is a debilitating condition, the diagnosis of which is a prompt indication for absolute surgical management. FOP is a recognized cause of TMJA, but the awareness of the condition appears to be low among clinicians due to its rarity. Studies reveal that 90% patients of FOP have a history of misdiagnosis and 67% undergo unwarranted diagnostic procedures resulting in flare ups.FOP is an extremely rare catastrophic genetic disorder affecting 1 in 1.7 millionFOP results in heterotopic ossification(HO) of ligaments, tendons, and skeletal musclesThe average age of onset of ossification is 5 years.Diagnosis is mainly clinical and radiological, although genetic linkage analysis is confirmatory.The most debilitating manifestation of FOP is the ossification of masticatory muscles TMJA.The reasons for presenting this fairly straight forward case report with review of literature are manifold: Firstly, FOP is rare but nevertheless an important cause of TMJA and has to be considered in every patient presenting with TMJA. Some patients may manifest isolated TMJA prior to developing other lesions and the maxillofacial surgeon/dental surgeon happens to be the first consultant. Though not confirmatory, examination of the entire skeletal system especially GTM, hallux valgus should be eliminated in these patients. Absence of GTM does not eliminate the possibility of FOP as seen in our case but its presence mandates further evaluation. Secondly, considering the literature, TMJA in FOP happens to be an absolute contraindication for surgery. Any surgery for release of ankylosis will lead to recurrence and worsening of the condition.None declared.Kavish Kapoor was a major contributor in working up the case and arriving at the final diagnosis. Arunkumar Shadamarshan Rengasayee contributed by providing the clinical material and working up the case for management; involved in revising the manuscript critically for important intellectual content; agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. Rohit Sharma contributed in part by working up the case and arriving at the final diagnosis and gave the final approval of the version to be published. Nitesh Agrawal contributed to drafting the manuscript, appropriate literature review and interpretation to be included in the manuscript.Necessary ethics committee approval and informed patient consent have been obtained for the case study. The systematic review has been exempted from ethical committee approval.Informed patient consent has been duly obtained during the procedure and for the publication of the photographs.