Palpable mass in the neck: suspect thyroid/parathyroid pathology. It is associated with hypercalcemia, therefore, the option of medullary thyroid cancer is ruled out (it does not affect the level of calcemia). To think of MEN type I we should associate other pathologies (pituitary, pancreatic or duodenal tumors). The presence of a calcemia higher than 13mgr/dl, together with dysphonia, indicates a malignant tumor (higher calcemia level and infiltration), therefore we opt for option 1.

Palpable mass in the neck: suspect thyroid/parathyroid pathology. It is associated with hypercalcemia, therefore, the option of medullary thyroid cancer is ruled out (it does not affect the level of calcemia). To think of MEN type I we should associate other pathologies (pituitary, pancreatic or duodenal tumors). The presence of a calcemia higher than 13mgr/dl, together with dysphonia, indicates a malignant tumor (higher calcemia level and infiltration), therefore we opt for [HIDDEN].

A 45-year-old woman comes to the emergency department with confusional symptoms accompanied by dysphonia. On examination she has a palpable neck mass and a blood test shows plasma calcium levels of 15 mg/dL (normal up to 10.2 mg/dL). Given these findings, which of the following diagnoses should be suspected?

A rare coexistence of parathyroid adenoma and medullary and papillary thyroid carcinoma.

The combination of parathyroid adenoma, medullary thyroid carcinoma (MTC), and papillary thyroid carcinoma (PTC) has been reported occasionally, but it has now been recognized more often through effective evaluations. However, the etiology and risk factors remain unclear, so we discuss them in this article. Here, we report the case of a 64-year-old woman with parathyroid adenoma, MTC, and PTC diagnosed incidentally. This woman was admitted to the Xingtai People's Hospital affiliated to Hebei Medical University for an apparently aggravating symptom of hypodynamia. Her past medical history included diabetes and a left nephrolith. Upon admission, her bloodwork showed hypercalcemia, hypophosphatemia, and elevated serum parathyroid hormone. Subsequently, the sonographic findings revealed dominant nodules in both the right and left lobes with a left inferior suspected parathyroid adenoma. The patient underwent fine needle aspiration (FNA) of the bilateral thyroid lobes, the results of which were both thyroid carcinoma. Therefore, a thyroidectomy, a neck dissection, and the excision of a suspected parathyroid adenoma were performed. A histological examination revealed a combination of parathyroid adenoma, MTC, and PTC. Her serum calcium and parathyroid hormone levels returned to the normal range after the surgery. Our case highlighted the fact that even though the concurrent existence of parathyroid adenoma, MTC, and PTC is rare, the diagnosis of this coexistence should be considered in primary hyperparathyroidism (PHPT). To avoid repeat surgeries, patients with coexisting diseases should be screened cautiously. Therefore, we recommend a preoperative check of the calcium levels in patients with thyroid cancer and a preoperative thyroid check in all patients with PHPT.

Intrathyroidal parathyroid carcinoma as cause of hypercalcemia and pitfall of localization techniques: clinical and biologic features.

To describe an unusual case of intrathyroidal parathyroid carcinoma (PC), which was retrospectively diagnosed in a woman who underwent surgical treatment of a recurrent nodular goiter. We report the clinical and biologic features of an intrathyroidal PC, discuss the challenges with distinguishing PC from parathyroid adenoma, and review the related literature. A 67-year-old woman sought medical attention for dysphagia attributable to the recurrence of a normal functioning multinodular goiter. Thyroid ultrasonography disclosed a 3-cm solid inferior nodule. Because she refused surgical treatment and a trial of levothyroxine was unsuccessful, periodic follow-up examinations were scheduled. At 1-year follow-up, hypercalcemia (12.1 to 12.6 mg/dL) and low phosphorus levels (2.0 to 2.3 mg/dL) were found, and parathyroid hormone (PTH) levels were profoundly increased (481 to 721 pg/mL). Neck ultrasonography showed a large hypoechogenic solid nodule, not clearly cleaved from the right thyroid lobe, which was possibly compatible with an enlarged parathyroid gland; however, a sestamibi scan was negative. During total thyroidectomy, intraoperative frozen sections of the intrathyroid nodule were compatible with nodular goiter with cellular pleomorphism. Final histologic examination showed cellular nests with nuclear pleomorphism and invasive behavior into the thyroid tissue and likely into the vessels, in conjunction with immunohistochemical negativity for thyroglobulin and strong positivity for PTH. These findings were highly suggestive of and supported the diagnosis of PC. Postoperatively, calcium levels normalized, and PTH values declined considerably but remained slightly increased. Vitamin D supplementation helped normalize the PTH levels. The patient has undergone follow-up for 5 years and has shown no morphologic or biochemical signs of tumor recurrence. PC is a rare entity but should be suspected in patients with hypercalcemia, substantially increased PTH levels, and a neck mass. In such patients, techniques such as sestamibi scanning may fail to localize the neoplasm. Surgical treatment remains the preferred technique for an optimal outcome of the disease. Nevertheless, lifelong follow-up is necessary.

Acute presentation of a giant intrathyroidal parathyroid adenoma: a case report.

We report the case of a giant intrathyroidal parathyroid adenoma weighing 59 g in a young woman presenting acutely with severe hypercalcemia requiring correction and adequate preoperative management prior to surgery. Parathyroid adenomas account for 85 % of cases of primary hyperparathyroidism. Those weighing more than 3.5g are classified as giant parathyroid adenomas. There are only 25 cases of parathyroid adenomas weighing over 30g reported in the literature. With the wide availability of biochemical screening tests in Western countries, mildly elevated calcium levels are often discovered incidentally. Our case is unusual for the extreme level of hypercalcemia, the patient's young age, and the weight of the adenoma, particularly in a developed country. A 21-year-old Irish woman presented with a 3-week history of an enlarging right-sided neck mass. There was no dysphagia, stridor, or symptoms of hyperthyroidism or hypercalcemia. On examination, there was a firm painless swelling in the right lobe of her thyroid. Her thyroid function tests were normal. Corrected serum calcium was markedly elevated at 3.96 mmol/L with hypophosphatemia of 0.35 mmol/L. She was treated with bisphosphonates and fluids administered intravenously. Her parathyroid hormone level was over 20 times the upper limit of normal. Ultrasound revealed a solid and cystic nodule in the lower pole of the right lobe of her thyroid. Parathyroid scintigraphy demonstrated a 5×4 cm lesion which concentrated tracer. A right-sided parathyroidectomy, right thyroid lobectomy, and level VI neck dissection were performed. An encapsulated multiloculated solid cystic mass weighing 59 g was removed. There was no definite infiltration of the capsule and MIB1 count was low at 1 % thus the specimen lacked the diagnostic features of carcinoma. On the third postoperative day, hungry bone syndrome developed and calcium replacement administered intravenously was required. At 1-year postoperative, she was weaned off calcium and alfacalcidol. A follow-up ultrasound showed unremarkable residual thyroid. Any patient with an isolated hypercalcemia warrants a thorough work-up. Hungry bone syndrome is a potentially avoidable condition; thus the clinician should be highly attuned to the risk of hungry bone syndrome post-parathyroidectomy, which correlates with the weight of the adenoma resected.

Hypercalcemia and Neurological Symptoms: A Rare Presentation of Hyperfunctioning Parathyroid Adenoma in an Adolescent.

Neuropsychiatric symptoms are rarely described as a manifestation of hyperparathyroidism, especially in children. We describe the case of an adolescent with hypercalcemia related to and hyperfunctioning parathyroid adenoma presenting with acute neuropsychiatric symptoms. A 14-year-old-girl presented into the Emergency Service Department because of an acute onset of marked asthenia, muscle weakness with difficulty in walking, and altered mental status, which included nonsensical speech. No other neurological signs were present. Abdominal, cardiac, and thoracic examination were unremarkable. There was no recent history of trauma or infection. Family history was negative for neurologic disorders. Her past medical history was unremarkable. A head CT scan showed negative results. The laboratory work-up showed elevated levels of calcium level (14.35 mg/dl; nv 9-11 mg/dl), parathyroid hormone (PTH; 184 pg/ml; nv 3.5-36.8 pg/ml), and creatinine (1.23 mg/dl; nv 0.45-0.75 mg/dl). Sodium, potassium, chloride, thyroid function, glycemia, and insulin values were normal. Neck ultrasonography showed a solid, oval, capsulated, hypoechoic neoformation, with discrete vascularization localized to the inferior pole of the right thyroid lobe, referring to parathyroid tissue. Scintigraphy revealed a hyperfunctioning parathyroid tissue at the inferior pole of the right thyroid lobe. Massive intravenous hydration and diuretic therapy were started. The signs and symptoms of hypercalcemia improved after the initiation of therapy. The patient was submitted to right cervicotomy and muscle sparing for the removal of the adenoma of the right superior parathyroid gland. After surgery, a decrease in PTH levels (<4 pg/ml) and calcium levels (9.1 mg/dl) was recorded. During follow-up, calcium values remained stable; a progressive normalization of PTH was obtained. The oral calcium therapy was suspended after 3 months from surgery. No neuropsychiatric symptoms recurred. An evaluation of the serum calcium level is mandatory in children and adolescents with unexplained neurological signs or symptoms, and a check for hyperparathyroidism should be considered.

Diagnosis of Parathyroid Adenomas with New Ultrasound Imaging Modalities.

Ultrasound technology is becoming an integral part of diagnosing parathyroid adenomas. Careful ultrasound evaluation with b-mode, shear wave elastography, and three-dimensional (3D) of parathyroid adenomas may improve localization and outcome. <b<iIntroduction:</i</b A 60-year-old woman was referred for the evaluation of hyperparathyroidism. This patient gave her informed consent. She had a history of hypothyroidism and thyroid nodules. She was being treated with levothyroxine 50 mcg daily. Routine testing revealed hypercalcemia. The serum calcium was 11.2 (nL range 8.7-10.2 mg/dL), creatinine was 0.69 (nL range 0.57-1.00 mg/dL), intact parathyroid hormone (PTH) was 70 (nL range 15-65 pg/mL), phosphorus was 2.7 (nL range 2.5-4.5 mg/dL), vitamin D was 38.7 (30-100 ng/mL), and 24 hours urine calcium was 362.9 (100-300 mg/24 hour). The neck ultrasound showed two lesions one superior/posterior and the other in the inferior/posterior aspect of the right thyroid lobe measuring 11.6 × 4.4 × 9.7 mm and 14.6 × 5.0 × 10.0 mm, respectively. Both lesions resembled parathyroid adenomas. Shear wave velocity (SWV) measurements for the superior and inferior lesions were 1.67 and 1.77 m/second, respectively. For the adjacent thyroid tissue SWV was 2.3 m/second, significantly higher. 3D ultrasound examination demonstrated a polar artery in both lesions. A sestamibi scan showed a probable right parathyroid adenoma and she was referred for surgery. She was found to have two right parathyroid adenomas in the superior and inferior poles corresponding with the ultrasound finding. Intraoperative PTH level decreased from 139.9 to 17 pg/mL postresection. Six weeks after surgery, her calcium and PTH were normal. <b<iMaterials and Methods:</i</b This patient was evaluated in our clinic with ultrasound imaging, including b-mode, shear wave elastography (SWE), and 3D ultrasound. <b<iDiscussion:</i</b Most patients with primary hyperparathyroidism have a single parathyroid adenoma. Other causes include glandular hyperplasia, multiple adenomas, and parathyroid carcinoma.<sup1,2</sup This case shows two parathyroid adenomas in the neck posterior to the right thyroid lobe. The role of ultrasound in diagnosing parathyroid adenomas is becoming more prominent because of improved technology, low cost, and noninvasive nature. With this case we illustrate that SWE can be an added value to b-mode ultrasound in diagnosing parathyroid adenomas. Our previous publication in the <iJournal of European Radiology</i reported that SWV measurement of parathyroid adenomas may enhance other sonographic parameters to predict the diagnosis. In our view, parathyroid adenomas appear to have a more homogenous texture and lower tissue stiffness when compared with the thyroid gland.<sup3</sup This case confirms our prior findings. It can be challenging to differentiate parathyroid adenomas from lymph nodes (LNs) and ectopic thyroid tissue at level 6, with b-mode ultrasound. A combination of 3D ultrasound images with 3D color Doppler (CD) might improve our ability to identify the polar artery and enhance differentiation from LN. 3D technology might improve the view by adding coronal view to current b-mode that comprises of transverse and longitudinal views. This is a preliminary report, and more studies need to be done. <b<iConclusion:</i</b Combining multiple image modalities, including b-mode, shear wave elastography, and 3D technology, may improve our ability to identify parathyroid adenomas. Parathyroid adenomas have a lower SWV compared with thyroid tissue. 3D ultrasound technology may enhance view of polar artery when adding 3D CD. This challenging case illustrates the utility of these additional modalities. No competing financial interests exist. Runtime of video: 1 min, 52 secs.

[A case of primary hyperparathyroidism associated with marked hypercalcemic crisis].

A 41-year-old woman was referred to our hospital with complaints of general fatigue, appetite loss, nausea and vomiting. Blood examination revealed high serum calcium level (21.6 mg/dl) and high serum parathyroid hormone level. Although enlarged parathyroid glands could not be clearly detected via ultrasonography, computed tomography and scintigraphy, we diagnosed her with hypercalcemic crisis due to primary hyperparathyroidism and performed parathyroidectomy after conservative therapy. A parathyroid tumor measuring 1.9 x 1.1 x 1.0 cm, and weighing 1,100 mg was found at the upper right pole of the thyroid gland, and three thyroid tumors were found in the bilateral lobes of the thyroid gland. Histological diagnosis was adenoma of the parathyroid gland and follicular adenomas of the thyroid gland. Following removal of the parathyroid tumor, the serum calcium level rapidly dropped and the symptoms rapidly improved. Hypercalcemic crisis has a high mortality, and the only treatment is surgical removal. Therefore, in patients with hypercalcemic crisis due to primary hyperparathyroidism, surgical removal should be done immediately, unless the serum calcium level has dropped and symptoms of crisis have disappeared after conservative treatment.

[A case of parathyroid carcinoma].

A case of parathyroid carcinoma in a 49-year-old female is described. She is found to have renal stones and high serum calcium levels. On physical examination a fixed walnut-sized mass was detected on her right neck. Laboratory studies disclosed a serum calcium level of 12.7 mg/dl, serum phosphorus level of 2.5 mg/dl, serum Ca++ level of 3.12 mEq/l, and positive Gold-Smith test. Computer-assisted tomography scan and ultrasonogram showed a mass in the posterior region of the right lobe of her thyroid. The tumor was resected and histopathological examination showed parathyroid carcinoma. The patient had no evidence of recurrence 2 years following surgery. Our report is the 70th case among Japanese literature.

Papillary thyroid carcinoma, parathyroid adenoma, and unexplained hypercalcitoninemia: an unusual presentation of multiple endocrine neoplasia type 2A?

Multiple endocrine neoplasia type 2 (MEN 2) is a rare syndrome of medullary thyroid carcinoma (MTC) with pheochromocytoma and/or primary hyperparathyroidism (PHP), usually due to multigland hyperplasia. MEN 2 is associated with several RET protooncogene mutations. A 61-year-old woman with a family history of RET-positive MTC presented with a solitary thyroid nodule. Fine-needle aspiration biopsy was suspicious for neoplasm. Biochemical studies revealed basal hypercalcitoninemia (116 pg/mL [normal <26]) and PHP (serum calcium, 10.9 mg/dL; intact PTH, 113.2 pg/mL [10.0-65.0]). Pheochromocytoma screening was negative. A provisional diagnosis of MEN 2 was made, but at surgery, a single parathyroid adenoma was resected and frozen sections of several lymph nodes revealed papillary thyroid carcinoma (PTC). A total thyroidectomy was performed. Final histological diagnosis was PTC and parathyroid adenoma with no evidence of MTC. Postoperatively, RET mutation testing was positive. The basal calcitonin (CT) fell to 25 pg/mL, but peaked at 935 (normal <105) after pentagastrin infusion, consistent with occult MTC. After radioiodine ablation, CT decreased further. Octreotide scanning was negative. Faced with PHP, a thyroid nodule, and a family history of MTC, clinicians tend to diagnose MEN 2. This patient had a single parathyroid adenoma and nonmedullary thyroid cancer, which the literature actually suggests to be an association more frequent than MEN 2. Yet, there remains compelling data in favor of occult MTC, leaving open the possibility of an MEN 2 variant with the rare association of PTC.

Primary hyperparathyroidism as the first clinical manifestation of multiple endocrine neoplasia type 2A in a 5-year-old child.

Primary hyperparathyroidism occurs in only 10%-30% of patients with multiple endocrine neoplasia type 2A (MEN2A), rarely as the sole clinical manifestation, and is usually diagnosed after the third decade of life. A 5-year-old girl was referred for prophylactic thyroidectomy as she carried the p.C634R RET mutation. She was clinically asymptomatic, with a normally palpable thyroid and with the cervical region free of lymphadenopathy or other nodules. Preoperative tests revealed hypercalcemia associated with elevation of parathyroid hormone (PTH) (calcium = 11.2 mg/dL, calcium ion = 1.48 mmol/L, phosphorus = 4.0 mg/dL, alkaline phosphatase = 625 U/L, parathyroid hormone (PTH) PTH = 998 pg/mL). A thyroid ultrasound was normal and parathyroid scintigraphy with (99m)Tc-Sestamibi revealed an area of radioconcentration in the upper half of the left thyroid lobe suggesting hyperfunctioning parathyroid tissue. She underwent total thyroidectomy and parathyroidectomy and developed hypocalcemia. The anatomopathological examination showed no histopathological changes in the thyroid tissue and an adenoma of the parathyroid gland, confirming the diagnosis of hyperparathyroidism. Primary hyperparathyroidism can be a precocious manifestation of MEN2A. This case report highlights that asymptomatic hypercalcemia should be scrutinized in children related to patients with MEN2A who carry a mutation in the RET proto-oncogene, especially mutations in the codon 634, before the currently recommended age of 8 years.

[Carcinoma of the parathyroids. Surgical experience in 3 cases].

Parathyroid carcinoma is a rare cause of hyperparathyroidism (rate of occurrence of 0.5% of all parathyroid neoplasms). In this report we describe three cases of parathyroid carcinoma seen in our Institution and we analyse the clinical, diagnostic, therapeutic and pathological findings of this disease. The three patients were 14, 22 and 45 year old respectively. Familial history was negative for endocrine diseases. The laboratory and instrumental findings of thyroid and adrenal glands were negative. Predominant symptoms were in all cases weakness, lethargy, bone and muscular pain, nausea, vomiting. The two young patients presented fractures of the inferior limb and of the forearm respectively, five years and one year before the diagnosis. X-ray examination and MNR easily demonstrated the "brown tumors". In two cases a symptomatic nephrolithiasis was present. The 14 year old child presented polyuria and polydipsia. In all cases a mass was palpable in the neck (two in the right side and one in the left one). The elevated serum calcium concentration (15, 18, and 20.2 mg/dl respectively) and the elevated serum PTH (480, 651, and 680 pg/ml respectively) allowed the diagnosis of hyperparathyroidism. Ultrasound scan and thallium-technetium scanning identified in all cases a mass adjacent the thyroid. A radical resection of the malignant parathyroid gland and the ipsilateral thyroid lobe was performed in two cases, while only a resection of the involved parathyroid gland in one case. The diagnosis of parathyroid cancer was established using pathologic criteria.(ABSTRACT TRUNCATED AT 250 WORDS)

Parathyroid carcinoma

Parathyroid carcinoma is a rare cancer resulting in parathyroid adenoma to carcinoma progression. It forms in tissues of one or more of the parathyroid glands (four pea-sized glands in the neck that make parathyroid hormone (PTH). PTH helps the body maintain normal levels of serum calcium by promoting calcium reabsorption from bone. It is antagonized by the hormone calcitonin, which prompts calcium storage.). It is rare, and much less common than parathyroid adenoma. It can be difficult to excise. Signs and symptoms Most patients experience moderate to severe hypercalcemia and high parathyroid hormone levels. A large mass in the neck is often seen, and kidney and bone abnormalities are common. Risk factors Parathyroid cancer occurs in midlife at the same rate in men and women.

Parathyroid carcinoma occurred in two glands in multiple endocrine neoplasia 1: a report on a rare case.

Primary hyperparathyroidism is the most common hormonal manifestation associated with multiple endocrine neoplasia 1 (MEN1). It is generally caused by parathyroid hyperplasia, and parathyroid carcinoma is rare. Here, we report a case of MEN1 with parathyroid carcinoma in two parathyroid glands causing primary hyperparathyroidism. A 40-year-old man with primary hyperparathyroidism due to MEN1 underwent a total parathyroidectomy. His corrected calcium and intact PTH (i-PTH) serum levels were 10.8 mg/dL and 203 pg/mL, respectively. Although three glands were successfully removed, the left upper parathyroid gland could not be detected. Since the right lower parathyroid lesion had invaded into the thyroid, right lobectomy was performed. A portion of the left lower parathyroid tissue was transplanted into his forearm. The histological findings of the left lower and the right upper parathyroid glands were consistent with hyperplasia while that of the right lower parathyroid gland was parathyroid carcinoma. Since the post-surgical i-PTH levels remained high, the intrathyroidal lesion of the left lobe, which was initally diagnosed as an adenomatous nodule, was suspected to contain parathyroid tumor. A fine needle aspiration of the tumor revealed a high concentration of i-PTH. One week after the first surgery, a left thyroid lobectomy was performed. The pathological diagnosis of the tumor was parathyroid carcinoma. After the surgery, calcium and i-PTH levels were normal. Although it is rare, parathyroid carcinoma should be considered as a cause of hyperparathyroidism in MEN1 patients. Since it is difficult to diagnose parathyroid carcinoma before surgery, intraoperative findings are important for the appropriate treatment.

[Cervical macroadenoma causing hyperparathyroidism: Report of one case].

We report a 59-year-old man with a history of hypertension, recurrent renal stones and a severe hypercalcemia of 14.9 mg/dl with a serum phosphorus of 2.4 mg/dl and a serum albumin of 3.6 g/dl. Physical examination showed a 4 cm left cervical nodule, consistent with the diagnosis of thyroid nodule. Parathyroid hormone (PTH) levels were 844 pg/mL (normal 15-65 pg/ml) and a cervical ultrasound examination disclosed a solid nodule in the lower left lobe of 40 x 30 x 25 mm, adjacent to the thyroid parenchyma. Abdominal ultrasound revealed bilateral renal stones. Parathyroid scintigraphy showed a high uptake of the left lower parathyroid mass and a bone densitometry showed bone density t scores of -1.2 in the spine, -2.0 in the right femoral neck and -3.5 in the distal radius. A review of his medical record revealed the presence of hypercalcemia for at least 4 years. He was admitted for hydration and administration of 4 mg zoledronic acid iv. At 24 hours, serum calcium dropped to 11.0 mg/dl, and a left thyroid lobectomy was performed including the lower left parathyroid gland. The pathology report showed a 22.6 g parathyroid adenoma. Intraoperatory PTH descended > 50%, consistent with successful parathyroidectomy. At 7 days after surgery serum calcium was 8.8 mg/dl, phosphorus 2.1 mg/dl, alkaline phosphatase 166 U/L, albumin 3.9 g/dL, PTH 230 pg/ml and 25-OH vitamin D 12.4 ng/ml. This finding was interpreted as secondary hyperparathyroidism due to vitamin D deficiency and "hungry bone", being less likely the presence of residual or metastatic parathyroid tissue. A cholecalciferol load was administered, with significant descent of PTH.

Thoracoscopic surgical case of an ectopic mediastinal parathyroid adenoma detected by chance: a case report.

Ectopic mediastinal parathyroid tumor (EMPT) is a rare cause of primary hyperparathyroidism (PHPT); it is difficult to resect using the cervical approach. We describe a case of using video-assisted thoracic surgery (VATS) for EMPT resection. A 67-year-old woman with a history of postoperative thyroid cancer had no symptoms. She was diagnosed with PHPT and underwent thyroid cancer surgery. She had serum calcium and intact parathyroid hormone (PTH) levels of 11.1 mg/dL and 206 pg/mL, respectively. Chest computed tomography showed a 10-mm nodule in the anterior mediastinum. Technetium-99 m methoxyisobutyl isonitrile scintigraphy showed an abnormal uptake lesion in the anterior mediastinum. She was diagnosed with PHPT caused by EMPT and underwent VATS. The pathological examination confirmed parathyroid adenoma. Her serum calcium and intact PTH levels were normal from 15 min after tumor resection. She has had no recurrence of EMPT. The VATS approach was effective for the resection of EMPT.

Parathyroid adenoma

A parathyroid adenoma is a benign tumor of the parathyroid gland. It generally causes hyperparathyroidism; there are very few reports of parathyroid adenomas that were not associated with hyperparathyroidism. A human being usually has four parathyroid glands located on the posterior surface of the thyroid in the neck. In order to maintain calcium metabolism, the parathyroid glands secrete parathyroid hormone (PTH) which stimulates the bones to release calcium and the kidneys to reabsorb it from the urine into the blood, thereby increasing its serum level. The action of calcitonin opposes PTH. When a parathyroid adenoma causes hyperparathyroidism, more parathyroid hormone is secreted, causing the calcium concentration of the blood to rise, resulting in hypercalcemia. Signs and symptoms The first signs of a parathyroid adenoma and the resulting primary hyperparathyroidism can include bone fractures and urinary calculi such as kidney stones.

Subacute thyroiditis manifesting as a thyroid mass, vocal cord paralysis, and hypercalcemia.

To report a case of subacute thyroiditis manifesting as a thyroid mass, vocal cord paralysis, and hypercalcemia. We describe the clinical, laboratory, and radiologic findings in a patient with an unusual clinical course of subacute thyroiditis. A 65-year-old woman presented with a hoarse voice and an enlarging tender mass in the right side of the neck. On admission, thyroid function was consistent with thyrotoxicosis from subacute thyroiditis. Laboratory studies showed a corrected serum calcium concentration of 11.4 mg/dL, intact parathyroid hormone of 125 pg/mL, 25-hydroxyvitamin D of 12 ng/mL, and creatinine of 1.8 mg/dL. Computed tomography of the neck without use of a contrast agent showed a heterogeneous mass in the right side of the neck in conjunction with deviation of the trachea from right to left but without invasion of the trachea. Thyroid ultrasonography disclosed a heterogeneous mass in the right thyroid lobe measuring 4.7 cm by 5.5 cm by 4.5 cm. Flexible laryngoscopy revealed right vocal cord paralysis. Treatment with a course of prednisone yielded normalization of the serum calcium level, improvement in her voice, and a decrease in size of the thyroid mass. Four months after initial presentation of the patient, thyroid hormone levels became normal, she was clinically euthyroid, and she had a full recovery of her voice. Her serum calcium concentration was normal (9.8 mg/dL) in association with a near-normal parathyroid hormone level of 90 pg/mL. The 25-hydroxyvitamin D and creatinine values were also normal. Repeated thyroid ultrasonography showed a smaller right thyroid lobe with a dominant nodule measuring 2.0 cm by 1.3 cm by 1.4 cm in the right upper pole. This case illustrates that subacute thyroiditis can have the unusual initial manifestations of a thyroid mass, vocal cord paralysis, and hypercalcemia. In similar patients, a trial of corticosteroid therapy may be warranted in an effort to improve clinical symptoms and thus avoid unnecessary surgical treatment.

Parathyroid gland

Hyperparathyroidism and hypoparathyroidism, characterized by alterations in the blood calcium levels and bone metabolism, are states of either surplus or deficient parathyroid function. Structure The parathyroid glands are two pairs of glands usually positioned behind the left and right lobes of the thyroid. Each gland is a yellowish-brown flat ovoid that resembles a lentil seed, usually about 6 mm long and 3 to 4 mm wide, and 1 to 2 mm anteroposteriorly. There are typically four parathyroid glands. The two parathyroid glands on each side which are positioned higher are called the superior parathyroid glands, while the lower two are called the inferior parathyroid glands. Healthy parathyroid glands generally weigh about 30 mg in men and 35 mg in women. These glands are not visible or able to be felt during examination of the neck.

Intrathyroidal parathyroid carcinoma presenting as an asymptomatic hypercalcemia: a case report.

A 26-year-old female presented with severe hypercalcemia. She was asymptomatic. Blood analysis revealed high serum calcium (13 mg/dL = 3.25 mmol/L) and elevated intact parathyroid hormone (iPTH) levels (267.5 ng/L). Ultrasonography showed a mixed solid-cystic nodule of 30 mm in the left thyroid lower lobe and a nodular lesion of 14 mm posterior of the thyroid upper pole suggestive for parathyroid adenoma. Sestamibi scan and magnetic resonance imaging (MRI) revealed hyperfunctioning parathyroid tissue posterior of the left thyroid upper lobe. During surgery, a 15 mm nodule in the usual location of the left superior parathyroid was resected. Intraoperative frozen section revealed normal parathyroid tissue and intraoperative PTH levels did not decrease. Left thyroidectomy was performed due to the large solid-cystic nodule. Intraoperative PTH levels normalized 10 min later. Pathologic examination revealed a 28 mm nodule in the lower thyroid pole compatible with a parathyroid carcinoma (PC). Due to positive margins, a completion thyroidectomy was performed. 5-year follow-up showed no recurrence. PC is a rare entity comprising 0.5-2% of patients with primary hyperparathyroidism. Even more unusual is an intrathyroidal parathyroid gland (0.2%). Only a dozen cases of intrathyroidal PC have been reported. Our case is the second patient reported to be asymptomatic.

Parathyroidectomy

Recovery after the operation tends to be swift. The PTH level is back to normal within 10–15 minutes, and can be confirmed by intraoperative rapid assessment during the operation. However, the remaining parathyroid glands may take hours to several weeks to return to their normal functioning levels (as they may have become dormant). Calcium supplements are therefore often required to prevent symptoms of hypocalcemia and to restore lost bone mass. The patient is placed in a semi-Fowler position and the neck is extended. An abbreviated Kocher incision is made and the platysma muscle is dissected horizontally. The strap muscles are released off of the thyroid gland. Then the thyroid gland is mobilized and the parathyroid arterial blood supply is suture ligated. The entire parathyroid adenoma is identified and dissected out. Intraoperative PTH monitoring can begin at this time and will show falling PTH levels if the entire adenoma has been resected. Complications

Familial hypocalciuric hypercalcemia

Familial hypocalciuric hypercalcemia (FHH) is an inherited condition that can cause hypercalcemia, a serum calcium level typically above 10.2 mg/dL. It is also known as familial benign hypocalciuric hypercalcemia (FBHH) where there is usually a family history of hypercalcemia which is mild, a urine calcium to creatinine ratio <0.01, and urine calcium <200 mg/day. Signs and symptoms Most cases of familial hypocalciuric hypercalcemia are asymptomatic. Laboratory signs of FHH include: High blood levels of calcium (hypercalcemia) A low amount of calcium excreted in the urine ( Ca excretion rate < 0.02 mmol/L) High blood levels of magnesium (hypermagnesemia) High normal to mildly elevated parathyroid hormone Causes Types include:

Hyperparathyroidism

Tertiary Tertiary hyperparathyroidism is seen in those with long-term secondary hyperparathyroidism, which eventually leads to hyperplasia of the parathyroid glands and a loss of response to serum calcium levels. This disorder is most often seen in patients with end-stage kidney disease and is an autonomous activity. Treatment Treatment depends on the type of hyperparathyroidism encountered. Primary People with primary hyperparathyroidism who are symptomatic benefit from parathyroidectomy—surgery to remove the parathyroid tumor (parathyroid adenoma). Indications for surgery are: Symptomatic hyperparathyroidism Asymptomatic hyperparathyroidism with any of the following: 24-hour urinary calcium > 400 mg (see footnote, below) serum calcium > 1 mg/dl above upper limit of normal Creatinine clearance > 30% below normal for patient's age Bone density > 2.5 standard deviations below peak (i.e., T-score of -2.5) People age < 50 Surgery can rarely result in hypoparathyroidism.

Spontaneous resolution of primary hyperparathyroidism in parathyroid adenoma.

A 71 yo woman with primary hyperparathyroidism awaiting surgery because of significant hypercalcemia and hypercalciuria presented to the local emergency department with the chief complaints of discomfort in her neck, sore throat, and difficulty swallowing. She was found to be hypocalcemic with a calcium level of 8.1 mg/dL. She was seen by her endocrinologist three days later at which time serum calcium, iPTH, and serum phosphate levels were all within normal limits. Based on history and a series of ultrasounds the patient was diagnosed with spontaneous infarction of her parathyroid adenoma, which resulted in resolution of her primary hyperparathyroidism.

Synchronous parathyroid carcinoma and papillary thyroid carcinoma.

The simultaneous occurrence of parathyroid carcinoma and nonmedullary thyroid carcinoma is unusual. We report the case of 60-year-old woman who was found to have concurrent parathyroid carcinoma with severe clinical manifestations of primary hyperparthyroidism in addition to an incidental papillary thyroid carcinoma. Parathyroid hormone level was 569 pg/ml (normal range 10-65), and the serum calcium concentration was 13.83 mg/dl (normal range, 8.8-10.4). Preoperative investigation found a large 3 cm anterior cervical nodule suggestive of parathyroid adenoma. Total thyroidectomy and left parathyroidectomy were performed, and the final anatomopathological examination of the operative specimen concluded the coexistence of papillary microcarcinoma and parathyroid carcinoma. Although parathyroid carcinoma is an uncommon cause of hypercalcemia, it should be considered when severe hypercalcemia is observed, and in case of coexistence of thyroid nodules. The possibility of both malignancies must also be considered since parathyroid and nonmedullary thyroid carcinoma rare cases have previously been reported.

Parathyroid hormone

There are a number of rare but well-described genetic conditions affecting parathyroid hormone metabolism, including pseudohypoparathyroidism, familial hypocalciuric hypercalcaemia, and autosomal dominant hypercalciuric hypocalcemia. Of note, PTH is unchanged in pseudopseudohypoparathyroidism. In osteoporotic women, administration of an exogenous parathyroid hormone analogue (teriparatide, by daily injection) superimposed on estrogen therapy produced increases in bone mass and reduced vertebral and nonvertebral fractures by 45 to 65%. Measurement PTH can be measured in the blood in several different forms: intact PTH; N-terminal PTH; mid-molecule PTH, and C-terminal PTH, and different tests are used in different clinical situations. The average PTH level is 8–51 pg/mL. Normal total plasma calcium level ranges from 8.5 to 10.2 mg/dL (2.12 mmol/L to 2.55 mmol/L). Interpretive Guide The intact PTH and calcium normal ranges are different for age; calcium is also different for sex.

[Multiple endocrine type 2 neoplasia in 3 families].

In the last 15 years, 29 subjects (13 males, 16 females) aged 8-69 years, belonging to 3 kindreds with multiple endocrine neoplasia type 2 (MEN-2) were studied with rapid i.v. calcium gluconate infusions (2 mg Ca++/kg in 1 minute) in order to detect the presence of medullary thyroid cancer (MTC). Serum samples were obtained at 0, 2, 5, 7 and 10 minutes. Calcitonin was measured by radioimmunoassay using a commercial kit. On the basis of the results obtained in a control group of 28 healthy volunteers, hypercalcitoninemia (HCT) was defined as basal and stimulated values above 100 and 200 pg/ml, respectively, in either sex. In 2 patients with nodular goiter, HCT correctly predicted the malignant nature of the lesions. Out of 22 clinically normal subjects, 3 had HCT: one refused consent for surgery, but in the remaining 2 MTC was found, without extraglandular extension. Seven patients with surgically proven MTC have been followed; 4 have shown HCT: 3 women refused permission for exploratory surgery, and a 46 year old male with enlarged lymph nodes in the neck was found to have metastatic papillary thyroid cancer. Both calcitonin and thyroglobulin were immunohistochemically discovered in metastases and the original thyroid tumor (differentiated thyroid cancer, intermediate type). There were 2 false negative tests in patients with metastatic disease. This type of biochemical screening in members of MEN-2 kindreds allows early detection of MTC and its prevention through thyroidectomy in a preneoplastic stage (C-cell hyperplasia).(ABSTRACT TRUNCATED AT 250 WORDS)

PRIMARY HYPERPARATHYROIDISM ACCOMPANIED BY RECOVERY OF PARATHYROID BLOOD FLOW THREE MONTHS AFTER SPONTANEOUS PARATHYROID HEMORRHAGE.

The objective of this report was to describe an unusual case of emerging primary hyperparathyroidism (PHPT) accompanied by recovery of parathyroid blood flow 3 months after spontaneous parathyroid hemorrhage. Neck images and laboratory tests including serum calcium and parathyroid hormone (PTH) were performed to evaluate parathyroid hemorrhage. Pathologic findings after parathyroidectomy are also presented. A 58-year-old woman developed acute onset of neck pain and swelling with ecchymosis. Computed tomography showed a right paratracheal hematoma-like lesion behind the thyroid. Ultrasound (US) of the neck revealed a round, hypoechoic nodule measuring 27 × 25 × 18 mm in the right lower thyroid pole without vascular flow. Blood tests showed a corrected calcium of 9.3 mg/dL (normal, 8.7 to 10.3 mg/dL), and intact PTH of 68 pg/mL (normal, 10 to 65 pg/mL). Intact PTH measurement in fine-needle aspirate of the lesion was 339 pg/mL, confirming parathyroid origin. Repeat US after 3 months showed a remarkable decrease in lesion size with significant blood flow. Blood biochemistry showed a corrected calcium of 10.9 mg/dL, and an intact PTH of 237 pg/mL. She eventually underwent parathyroidectomy, and pathologic examination revealed parathyroid adenoma with a tiny thrombus. Spontaneous remission of PHPT after parathyroid hemorrhage has been known to occur sporadically, a phenomenon referred to as autoparathyroidectomy. Although spontaneous remission with permanent improvement of PHPT may be observed, PHPT can recur in the relative short term after parathyroid hemorrhage, and so follow-up blood biochemistry surveillance is necessary. Also, evaluating parathyroid blood flow using color Doppler US might be useful in verifying the recurrence of PHPT.

POSTOPERATIVE HYPOCALCEMIA FOLLOWING PARATHYROIDECTOMY FOR GIANT PARATHYROID ADENOMA.

Giant parathyroid adenomas (GPAs) are a rare type of parathyroid adenoma (PA) weighing >2 to 3 g. The objective of this manuscript is to report a case of giant parathyroid adenoma and highlight the risk of postoperative hypocalcemia. We describe the presentation and work-up of a woman with GPA confirmed with histopathology as well as management of postoperative hypocalcemia. A 66-year-old Caucasian female with chronic fatigue was found to have elevated calcium levels at 13.7 mg/dL (normal, 8.9 to 10.2 mg/dL) and elevated parathyroid hormone levels at 1,240 pg/mL (normal, 12 to 72 pg/mL). Contrast enhanced computed tomography scan of the neck showed a 5.6 cm heterogeneous mass posterior to the right thyroid. The patient underwent right parathyroidectomy and histopathology confirmed the diagnosis of a giant parathyroid adenoma (GPA) weighing 28.7 g. Postoperatively, the patient developed hypocalcemia secondary to hungry bone syndrome and was treated aggressively with intravenous calcium supplementation. At 4 weeks postoperatively, she had normal calcium levels without any calcium supplementation. GPAs are a rare variant of PA, and could be a distinct clinical entity with features different from both PA and parathyroid carcinoma. We further postulate that the risk of postoperative hypocalcemia secondary to hungry bone syndrome could be higher among patients with GPA compared to patients with PA. These hypotheses needs to be validated with further studies.

Surgery_Schwartz

and amyloid. Marked heterogeneity is present; cells may be polygonal or spindle shaped. The presence of amyloid is a diagnostic finding, but immunohistochemistry for calcitonin is more commonly used as a diagnostic tumor marker. These tumors also stain positively for CEA and calcito-nin gene–related peptide.Diagnosis. The diagnosis of MTC is established by history, physical examination, raised serum calcitonin, or CEA levels, and FNAB cytology of the thyroid mass. Attention to family history is important because about 25% of patients with MTC have familial disease. Because it is not possible to distinguish sporadic from familial disease at initial presentation, all new patients with MTC should be screened for RET point mutations, pheochromocytoma, and HPT. Screening of patients with famil-ial MTC for RET point mutations has largely replaced using provocative testing with pentagastrin or calcium-stimulated calcitonin levels to make the diagnosis. Calcitonin and CEA are used to identify

Hyperparathyroidism-Jaw Tumor Syndrome.

Primary hyperparathyroidism is a relatively common endocrine disorder, affecting 7 out of 1,000 adults. The median age at onset is the 6th decade of life. Our objective was to present a young patient with primary hyperparathyroidism who has a positive <iCDC73</i mutation. A 23-year-old woman was evaluated for hypercalcemia that was found after surgery for bilateral ovarian cyst removal. Her family history included multiple family members with nephrolithiasis. The physical examination revealed a well-appearing Caucasian woman with no palpable neck mass. The laboratory results showed serum calcium at 11.7 mg/dL (ref. 8.4-10.2), ionized calcium at 1.44 mmol/L (ref. 1.12-1.32), and serum PTH at 192 pg/mL (ref. 11-65). A technetium-99 sestamibi scan revealed focal uptake inferior to the left thyroid lobe. Thyroid ultrasound showed a left parathyroid adenoma. The patient subsequently underwent left inferior parathyroidectomy, which confirmed parathyroid adenoma, with resultant normalization of serum calcium and PTH levels. Due to her young age at diagnosis, genetic testing was performed, which revealed a mutation of <iCDC73</i. Although penetrance and expression are variable, the <iCDC73</i mutation is associated primarily with hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and sporadic parathyroid carcinoma. This patient currently has no evidence of jaw, uterine or renal tumors on screening imaging. Given the potential impact of inheritable neoplasia, all young patients with unexplained hyperparathyroidism should be considered for genetic screening.

Prevalence of primary hyperparathyroidism in 13387 patients with thyroid diseases, newly diagnosed by screening of serum calcium.

Primary Hyperparathyroidism (PHP) often goes unrecognised. Evidence of the influence of thyroid diseases on parathyroid activity exists. In order to determine the prevalence of primary hyperparathyroidism (PHP) in patients with thyroid diseases, a series of patients referred to an outpatient department for patients with thyroid diseases were examined for additional PHP. In addition to screening for thyroid diseases, serum calcium concentration (S-Ca) was measured in a series of persons who came to our outpatients' service for patients with thyroid diseases during the period 1992 to 1998. 13387 persons, median age 48 y, m = 2367, f = 11020, among them 9017 patients with thyroid diseases and 4370 persons without thyroid dysfunction, were studied. In patients with S-Ca outside the normal range, further diagnostic tests relating to PHP were performed. 106/13387 persons showed S-Ca > or = 2.6 mmol/L, in 31 cases due to PHP. In comparison to persons without thyroid diseases, the occurrence of PHP was significantly higher in patients with thyroid diseases (4/4370 = 0.09% vs. 26/9017 = 0.29%). Furthermore, 2 patients with normal S-Ca were diagnosed as having PHP in addition to another endocrine disease (acromegaly, multiple endocrine neoplasia type IIa, resp.). 31 of the 54 persons with S-Ca > 2.6mmol/L and who showed no other reasons for hypercalcaemia were found to be in a hyperthyroid state. The prevalence of PHP was significantly higher in patients with euthyroid goitre (p < 0.05) and in patients with thyroid carcinoma (p = 0.01) as compared to other persons with thyroid diseases. The groups of patients did not differ with regard to age. However, patients without thyroid diseases were significantly younger (median age 38y). Above the age of 50, the prevalence of PHP became higher in patients with euthyroid goitre or thyroid carcinoma than in those with a healthy thyroid gland. In contrast, in persons of under 50 y, there was no difference between these groups. The percentage of males with PHP was higher than in the total population studied (30% vs. 21.5%). In conclusion, a high occurence of PHP could be demonstrated in patients with thyroid diseases (0.29%) as compared to persons without thyroid dysfunction (0.09%), the highest prevalence being in patients with thyroid carcinoma. A clinically not relevant influence of thyroid function on S-Ca was seen in some patients with hyperthyroidism. Determination of S-Ca is recommended for each patient referred to a thyroid outpatients' department because of the high number of PHP cases in this context.

OCCULT PRIMARY HYPERPARATHYROIDISM: A CASE REPORT AND REVIEW OF PARATHYROID ULTRASONOGRAPHY.

To discuss the diagnosis and management of occult primary hyperparathyroidism. We present the biochemical and radiologic evaluation, treatment, and outcome of a woman with occult primary hyperparathyroidism which presented as an unusual neck mass on ultrasound. We also present a relevant literature review. A 52-year-old female presented with Hashimoto thyroiditis and a 1.2-cm, hypoechoic oval nodule in the left upper lateral portion of the thyroid. She returned a decade later with a 2.2-cm, hypervascular mass on ultrasound. Parathyroid hormone was mildly elevated at 90 pg/mL (reference range is 15 to 65 pg/mL), but she had persistently normal levels of total serum calcium at 9.9 mg/dL (reference range is 8.7 to 10.3 mg/dL), phosphorus at 3.5 mg/dL (reference range is 2.1 to 4.5 mg/dL), and albumin at 4.4 g/dL (reference range is 3.6 to 4.8 g/dL). She had elevated ionized calcium of 5.9 mg/dL (reference range is 4.5 to 5.6 mg/dL). Computed tomography with contrast of the neck revealed an enhancing oval lesion abutting the superior pole of the left thyroid with attenuation characteristics similar though slightly different from the thyroid. 99mTc-Sestamibi scan showed increased uptake posterior to the superior aspect of the left thyroid. Bone densitometry showed osteoporosis of the left distal radius and osteopenia of the left femoral neck. Minimally invasive radio-guided parathyroidectomy was performed with normalization of parathyroid hormone. Pathology confirmed a 1.715-g parathyroid adenoma. Despite normal total calcium levels, clinically significant primary hyperparathyroidism may present as a large adenoma which could appear as a hypervascular neck mass on ultrasound. A high index of suspicion based on ultrasound features and measurement of ionized calcium may be helpful in diagnosing occult, but clinically relevant primary hyperparathyroidism.

[Role of parathyroid hormone measurement in prediction for symptomatic hypocalcaemia after total thyroidectomy].

To evaluate the role of parathyroid hormone (PTH) and serum calcium in prediction for hypocalcaemia after total thyroidectomy. One hundred and sixty-five patients undergoing total or complete total thyroidectomy were reviewed retrospectively. The indications included bilateral carcinoma, undifferential carcinoma, surroundings invasion, distant metastasis and huge benign lesions. Preoperative and postoperative PTH, calcium concentrations and their decline levels were compared between Jan. 2005 and May 2009. The role of PTH value and decline level predicting for symptomatic hypocalcaemia were analyzed by receiver operator characteristics (ROC) curve. After total thyroidectomy, 85 patients (51.5%) developed hypocalcemia. Symptoms were reported by 36 patients (21.8%). The mean concentration of PTH for normocalcaemia (80 cases), asymptomatic hypocalcaemia (49 cases) and symptomatic patients (36 cases) were 31.0 ng/L, 19.6 ng/L and 11.9 ng/L, respectively. The mean decline level for the three groups were 28.6%, 52.6% and 78.0%, respectively. PTH value and its decline level had a poor predicting value for symptomatic hypocalcaemia and high negative predicting value for asymptomatic patients. The serum calcium concentration more than 2.0 mmol/L, PTH level higher than 15 ng/L and PTH decline less than 50% had the good negative predicting value of 97.6%, 90.3% and 96.5%, respectively. Postoperative PTH and its decline level were significantly correlated with postoperative serum calcium concentration but had a low accuracy for predicting symptomatic hypocalcaemia. The serum calcium concentration more than 2.0 mmol/L, PTH level higher than 15 ng/L and PTH decline less than 50% had the good predicting value for asymptomatic patients. Calcium should be routinely supplemented in the first 24 h after total thyroidectomy to reduce the rate of hypocalcemia and the severity of hypocalcemia symptoms.


Diplopia is usually caused by acute or secondary strabismus. Vertical gaze palsy is due to a midbrain lesion. In this case the MRI already places the origin of the symptoms in the pineal gland. The most frequent tumor in this region is the germ cell tumor (answer 3).

Diplopia is usually caused by acute or secondary strabismus. Vertical gaze palsy is due to a midbrain lesion. In this case the MRI already places the origin of the symptoms in the pineal gland. The most frequent tumor in this region is the germ cell tumor ([HIDDEN]).

A 13-year-old boy presents with subacute headache and diplopia. Neurologic examination shows vertical gaze palsy and MRI shows a contrast-enhancing lesion in the pineal region obstructing the aqueduct of Sylvian. The most likely diagnosis is:

Neuro-oncology

5. Pituitary Region Tumors A wide variety of tumors can occur in and around the sella turcica. The most common tumors in this region are craniopharyngiomas, pituitary adenomas, meningiomas, and optic chiasm gliomas. Visual impairment is a common presenting symptom, due to compression or invasion of the optic chiasm. 6. Germ Cell and Pineal Region Tumors Most tumors of the pineal region are either germinomas or pineal cell tumors, and are tumors of adolescents and young adults. Presentation relates to the location in the nervous system. 7. Medulloblastoma and Other Primitive Neuroectodermal Tumors Medulloblastoma and other primitive neuroectodermal tumors (PNETs) are a group of highly aggressive central nervous system tumors with a tendency to spread via cerebrospinal fluid pathways. These typically are tumors of childhood and young adulthood. 8. Meningiomas and Other Meningeal Tumors

Pineal mixed germ cell tumor with a synchronous sellar lesion in the sixth decade.

Intracranial germ cell tumors (GCTs) typically affect children and adolescents. We here report on a 59-year-old male patient presenting with diplopia, polydipsia and polyuria. On clinical examination, slight restriction of the upward gaze was seen on the left side. Computed tomography demonstrated calcifications in the pineal region and enhanced neurohypophysis. Magnetic resonance imaging displayed a heterogeneous pineal mass of 3-cm diameter, which was multicystic with an enhanced cyst wall, and also swelling of the pituitary stalk. The pineal lesion of the tumor, which included calcifications and keratinaceous components, was totally excised using an occipital transtentorial approach. Histopathological examination showed it to be a mixed GCT with germinoma and mature teratoma components. Postoperative chemoradiotherapy provided complete disappearance of the suprasellar lesion. To our knowledge, this is the first case of mixed bifocal GCT in an older adult reported in the literature, although a few cases of tumors with a single histological component have been reported. Hence, our case further underlines the possibility of the occurrence of GCTs in older adults and advocates the consideration of GCTs in the differential diagnosis of such cases for appropriate management.

[Unilateral supranuclear abducens palsy in a pineal tumor].

A 13-year-old boy complained of frequent headaches and diplopia on rightward gaze. A CT scan demonstrated hydrocephalus and a non-homogeneous enhancing mass in the pineal area, leading to a diagnosis of pineal tumor. The physical examination revealed no abnormalities. On neurological examination, there were a right homonymous hemianopsia and slight choked disc in both optic fundi. His right eye was slightly adducted on primary gaze. On right lateral gaze, his right eye could not move beyond the midline and showed gaze paretic nystagmus, whereas his left eye could move fully in all directions. The abducens palsy could be overcome by the oculocephalic maneuver or caloric test. Interestingly, his right eye could abduct when his left eye was covered. From these finding, this was labelled a supranuclear abducens palsy. The convergent nystagmus was observed. Rightward OKN (quick phase to right) of the right eye was abolished with and without the left eye covered, while leftward OKN of the right eye was preserved. Pursuit to right was disturbed. After removal of the tumor, the gaze palsies disappeared. It is postulated that the supranuclear lateral gaze palsy was caused by impairment of supranuclear control by involvement of lateral gaze pathways to gaze center coursing near the oculomotor nucleus.

Fast-developing fatal diffuse leptomeningeal dissemination of a pineal germinoma in a young child: a case report and literature review.

Intracranial germinomas are uncommon and constitute less than 1% of all intracranial tumors. They usually arise in the midline of the brain, most commonly in the pineal region. Pineal germinomas tend to spread through the cerebrospinal fluid (CSF). However, pineal germinomas with fast-developing diffuse subarachnoid/leptomeningeal dissemination are extremely rare, especially in young children. The case of a 4-year-old boy with a pineal germinoma who died of diffuse subarachnoid/leptomeningeal dissemination 1 month after radiotherapy is reported. A PubMed search with specific key terms was used to review cases of pineal germinomas with metastasis. The patient presented with a two-week history of worsening headache, visual disturbances and nonprojectile vomiting. Parinaud's sign was positive on physical examination. Head computed tomography (CT)/magnetic resonance imaging (MRI) revealed a lesion in the pineal region with eccentric calcification and obvious supratentorial hydrocephalus. Pineal germinoma was suspected. A ventriculoperitoneal (VP) shunt followed by focal radiotherapy ameliorated the headaches and visual disturbances. The patient was discharged home without further treatment due to financial difficulties. One month after discharge, he was readmitted due to worsening headache, vomiting and lethargy. MRI showed a decrease in the size of the pineal lesion but revealed a diffuse leptomeningeal enhancement including the sulcus, basal cistern, prepontine cistern, and supravermian cistern. The patient's condition deteriorated rapidly, and he died 26 hours after readmission. The characteristics of pineal germinomas with metastasis are reported based on a review of the literature. Metastases in pineal germinomas predominately occur in adolescents or young adults, most commonly as spinal "drop metastases." Dissemination usually develops several years after the initial tumor diagnosis and has a relatively good clinical prognosis. However, fast widespread subarachnoid/leptomeningeal dissemination and sudden death may occur in a young child before salvage treatment, as in the presented case.

An unusual location for a choroid plexus papilloma: the pineal region.

Choroid plexus papillomas (CPP) are rare benign neoplasms of the central nervous system that occur most often in children during the first decade of life. They occur most often in the lateral ventricle. It is extremely rare for a CPP to occur in the pineal region. We describe the case of a child with a CPP located in the pineal region, who was initially diagnosed with obstructive hydrocephalus by cranial computed tomography (CT). A 9-year-old female patient presented with complaints of visual disturbance, nausea, and vomiting. Magnetic resonance imaging (MRI) showed a poor contrast-enhanced pineal-localized lesion. Anatomical variations within the patient caused her surgery to proceed using a supratentorial-occipital interhemispheric approach. The tumor was totally removed, and a histological examination revealed the tumor to be a typical CPP. The patient received follow-up neurological and ophthalmologic examinations at 3, 6, 9, 12, 24, and 36 months postoperatively, which demonstrated her progressive improvement. CPPs may have a wide range of locations and resulting symptoms. However, the pineal region is a rarely encountered location, particularly for pediatric patients. It is of great value to correctly differentiate neoplasms such as germ cell tumors, pineocytomas, meningiomas, and astrocytomas, so that patients receive the correct diagnosis and treatment approach.

Neuroophthalmic Manifestations of Intracranial Tumours in Children.

All children between 0 and 16 years presenting with brain tumours confirmed by Magnetic Resonance Imaging (MRI) and treated surgically in our institute were included in this study. The aim of this study is to evaluate the neuroophthalmic and clinical characteristics of intracranial space occupying lesions in children. Neuroophthalmic manifestations along with location of the tumour by contrast-enhanced MRI, type of surgical intervention, and postoperative histopathological diagnosis were evaluated. In pediatric brain tumours, male preponderance was seen and supratentorial location was more common in general, while in older children, infratentorial tumours were more common than supratentorial tumours. Headache, vomiting, and cerebellar signs were the commonest neurological features. Diminution of vision, diplopia, and strabismus were the commonest ophthalmic symptoms. Papilledema, ophthalmoparesis, and nystagmus were the most frequent ophthalmological signs. Neurological manifestations of seizures, altered sensorium and motor deficits were more frequently seen in supratentorial tumours, while cranial nerve involvement and ataxia were seen in infratentorial tumours. Ophthalmological manifestations including diplopia, strabismus, ophthalmoparesis, and nystagmus were more frequently seen in infratentorial tumours. Astrocytoma was the most frequent histopathological diagnosis followed by medulloblastoma. Diagnosis of pediatric intracranial tumours is complex and requires a multidisciplinary approach for prompt management. An ophthalmologist should have a high index of suspicion for brain tumours especially in patients presenting with common ocular symptoms like diminution of vision, diplopia, and strabismus without any neurological symptoms.

Medulloblastoma

The cumulative relative survival rate for all age groups and histology follow-up was 60%, 52%, and 47% at 5 years, 10 years, and 20 years, respectively, with children doing better than adults. Signs and symptoms Signs and symptoms are mainly due to secondary increased intracranial pressure due to blockage of the fourth ventricle and tumors are usually present for 1 to 5 months before diagnosis is made. The child typically becomes listless, with repeated episodes of vomiting, and a morning headache, which may lead to a misdiagnosis of gastrointestinal disease or migraine. Soon after, the child will develop a stumbling gait, truncal ataxia, frequent falls, diplopia, papilledema, and sixth cranial nerve palsy. Positional vertigo and nystagmus are also frequent, and facial sensory loss or motor weakness may be present. Decerebrate attacks appear late in the disease.

Sphenoid wing meningioma

Tumors found in the external third of the sphenoid are of two types: en-plaque and globoid meningiomas. En plaque meningiomas characteristically lead to slowly increasing proptosis with the eye angled downward. Much of this is due to reactive orbital hyperostosis. With invasion of the tumor into the orbit, diplopia is common. Patients with globoid meningiomas often present only with signs of increased intracranial pressure. This leads to various other symptoms including headache and a swollen optic disc. The differential diagnosis for sphenoid wing meningioma includes other types of tumors such as optic nerve sheath meningioma, cranial osteosarcoma, metastases, and also sarcoidosis. Following the physical exam, the diagnosis is confirmed with neuro-imaging. Either a head CT or MRI with contrast such as gadolinium is useful, as meningiomas often show homogenous enhancement. Angiography looking for signs like stretched arteries may be used to supplement evaluation of vascular

Germ Cell Seminoma -- History and Physical

Pineal region tumors usually present with signs and symptoms of increased intracranial pressure (headache, nausea, vomiting, papilledema) due to obstructive hydrocephalus. Neuroophthalmological abnormalities are also present, which include diplopia and Parinaud syndrome characterized by upward gaze paralysis, loss of light perception, loss of convergence, and nystagmus. [4]

Central neurocytomas of uncommon locations: report of two cases.

We report two patients with central neurocytomas at an uncommon location in the brain. The first, a 58-year-old man presenting with signs and symptoms of increased intracranial pressure, had a tumor located at the pineal region. The second, a 21-year-old woman with tumor in the aqueductal region had worsening migraine-like headaches and diplopia. Both patients had obstructive hydrocephalus treated by neuroendoscopic third ventriculostomy and biopsy of the tumors. No additional treatment was done. We conclude that neurocytomas should be considered in the differential diagnosis of tumors located in the pineal and aqueductal regions.

Pineal Region Meningioma in a Very Young Child.

Meningiomas in childhood are infrequently seen. Furthermore, they are extremely rare at a pineal location with few reported cases above 5-years of age. We present a very young child with a large pineal region meningioma which mimicked the usually occurring pathologies at this site. A 2.5-year-old child presented with symptoms of raised intracranial pressure. MRI demonstrated a homogenously enhancing pineal lesion with small cystic areas. After an initial cerebrospinal fluid evaluation for germ cell tumors, the child underwent excision of the lesion by the Krause approach. The tumor showed no definitive dural attachment, had well-defined arachnoid interface, and was completely excised. The final histopathology was meningioma. Although unusual, we highlight the importance of considering meningiomas among the childhood pineal region lesions, given their good outcome with total resection. Also, pertinent brief literature of the pediatric pineal region meningiomas has been provided. An assessment of preoperative and intraoperative features (clear arachnoid plane) along with adjuncts such as frozen studies can help discern various entities of this region, and decide the extent of excision.

Pediatrics_Nelson

If an intracranial lesion is suspected, magnetic resonance imaging (MRI) is currently the examination of choice (Fig. 157-1). Examination of CSF by cytocentrifuge histologic testing is essential to determine the presence of metastatic disease in primitive neuroectodermal tumors, germ cell tumors, and pineal region tumors. A lumbar puncture should not be performed before imaging has been obtained to evaluate for evidence of increased intracranial pressure. If a tumor is Figure 157-1 Magnetic resonance imaging scan of a 9-year-old boy showing a heterogeneously enhancing fourth ventricular mass (arrow). It was resected, and pathology revealed medulloblastoma.

InternalMed_Harrison

A large number of tumors can arise in the region of the pineal gland. These typically present with headache, visual symptoms, and hydrocephalus. Patients may have Parinaud syndrome characterized by impaired upgaze and accommodation. Some pineal tumors such as pineocytomas and benign teratomas can be treated simply by surgical resection. Germinomas respond to irradiation, whereas pineoblastomas and malignant germ cell tumors require craniospinal radiation and chemotherapy. Meningiomas are diagnosed with increasing frequency as more people undergo neuroimaging for various indications. They are now the most common primary brain tumor, accounting for approximately 35% of the total. Their incidence increases with age. They tend to be more common in women and in patients with neurofibromatosis type 2. They also occur more commonly in patients with a past history of cranial irradiation.

[A case of pineal teratoma arising from hydrocephalus of unknown cause].

We report a case of "functional aqueductal stenosis" which reveals dilatation of the lateral and 3rd ventricles without stenosis at the aqueduct in MRI. This case shows a pineal teratoma which presents one year later with symptoms of hydrocephalus caused by "functional aqueductal stenosis". A seven-year-old boy was admitted to our department owing to headache and vomiting. CT and MRI showed hydrocephalus. The lateral and 3rd ventricles were dilated while the 4th ventricle was normal. Furthermore, tumoral obstruction of the aqueduct was not found. After a ventriculoperitoneal shunt, he recovered well without neurological deficits. One year later, symptoms of precocious puberty, that is the appearance of public hair and deepening of his voice, were found. A follow-up MRI demonstrated a pineal region tumor. Although human chorionic gonadotropin level in the serum and urine was transiently elevated, it normalized before surgery. The operation was performed by the occipital transtentorial approach and the tumor was totally removed. Histological examination proved this tumor to be a mature teratoma, showing three germ cell layers. About two weeks later, he was discharged without any neurological deficit. In this case, although hydrocephalus occurred, MRI didn't demonstrate aqueductal obstruction caused by the tumor. However, one year later, a pineal region tumor was confirmed by MRI. This suggests that hydrocephalus might have some association with the appearance of the pineal region tumor. Therefore, it is necessary to be aware of the possibility of the occurrence of tumors whenever we encounter "functional aqueductal obstruction", when MRI doesn't demonstrate aqueductal obstruction caused by a tumor.

Unusual clinical presentation of a presumed pineal germinoma with two disseminated lesions.

We report a case of a presumed pineal germinoma in a 28-year-old man. Although the pineal body, the presumed primary lesion, was small, there were two disseminated tumors, one in the posterior fossa and the other in the left parietal region. The initial symptom was cerebellar ataxia. These two disseminated tumors had attachments to the inferior surface of the cerebellar tentorium and the dura mater of the parietal convexity, respectively, and they were fed by external carotid artery branches, like meningiomas. Neither angiography nor magnetic resonance imaging could provide the differential diagnosis between germinoma and meningioma. Computed tomographic scanning revealed slight enlargement of the pineal body suggestive of a germinoma.

Glioblastoma multiforme of the pineal region: case report.

pineal region tumors are uncommon, and comprise more frequently three categories: germ cell, parenchymal cell and glial tumors. Most pineal gliomas are low-grade astrocytomas. Glioblastoma multiforme, the most aggressive and common brain tumor, is extremely rare at this location with only few cases reported. a 29-year-old woman with a two month history of headache, nuchal pain, fever, nausea and seizures and physical examination showing nuchal rigidity, generalized hypotony, hypotrophy and hyper-reflexia, Babinski sign and left VI cranial par palsy. CT scan examination revealed a ill-defined hypodense lesion at the pineal region with heterogeneous contrast enhancement. MRI showed a lesion at the pineal region infiltrating the right thalamic region. The patient underwent a right craniotomy with partial resection of the mass. The histological examination of paraffin-embedded material defined the diagnosis of glioblastoma multiforme. Post-operative radiotherapy was indicated but the patient refused the treatment and died two months afterwards. in spite of its rarity at this location, glioblastoma multiforme should be considered in the differential diagnosis of aggressive lesions at the pineal region.

[Medulloblastoma originating from the superior cerebellar peduncle: a case report].

A rare case of medulloblastoma originating from the superior cerebellar peduncle is reported. After tilting her neck to the right, a 4-year-old girl experienced a left-side hemiparesis for 3 months. Computed tomography (CT) scan and magnetic resonance image (MRI) showed an enhanced mass in the left tentorial incisura. The preoperative diagnosis was trochlear nerve neurinoma or tentorial meningioma, while the postoperative pathological diagnosis was medulloblastoma. Since medulloblastoma is thought to originate from the external granular layer, it is speculated that the external granular layer migrated through the superior cerebellar peduncle and changed to medulloblastoma.

Neuro-otology symptoms as the early sign in pediatric patient with a pineal gland tumor: a case report.

Patients with pineal tumors are often asymptomatic and the symptoms depend on the location of the mass. In fact, around 3%-8% of pediatric brain tumor cases are pineal tumors. Children with pineal tumors may present with dizziness and vertigo as early signs. These symptoms are common conditions among 5-15 years old children and could probably lead to misdiagnoses. We present a case of 14-year-old who came to the emergency room of DR. Soetomo Hospital Surabaya with neurotologic symptoms. After a series of radiographic and laboratory examinations, he was diagnosed with germinoma. A ventriculoperitoneal shunt was performed in the emergency room and intravenous dexamethasone was administered.

A suprasellar cystic germ cell tumor initially diagnosed as an arachnoid cyst.

We report here the case of a suprasellar cystic germ cell tumor (GCT) initially diagnosed as an arachnoid cyst. A 10-year-old boy experienced headache, dizziness, and diplopia, and was shown to have an approximately 2 cm suprasellar cyst. Two months after endoscopic third ventriculostomy was performed, a 5-6 cm cystic mass with an internal enhancing component was observed in the suprasellar cistern. Serum human chorionic gonadotropin levels were slightly increased in the serum and cerebrospinal fluid (55 and 162 IU/L, respectively) but were strikingly elevated in the cystic fluid (14,040 IU/L). The patient showed complete remission, with only a very small cystic lesion remaining after surgery, chemotherapy, and radiation treatment for a suprasellar mixed GCT. However, follow-up after treatment was complicated by moyamoya syndrome and cerebral infarction. GCT can be considered as a rare differential diagnosis in the case of a suprasellar cystic mass. Evaluation of tumor markers and close follow-up will be necessary.

Immature teratoma of the tectum mesencephali with histopathological detection of rudimentary eye anlage in a 3-year-old boy: Report of a rare case.

Intracranial teratoma is a rare neoplasm derived from omnipotent germinal cells that can contain mesoderm, endoderm and/or ectoderm layer tissue. Histologically teratomas are characterized by abnormal structures like teeth or bone that can be further subdivided into mature and immature according to the presence of incompletely differentiated tissue. Characteristic intracranial teratomas are space-occupying lesions in the pineal region and often present with hydrocephalic symptoms due to aqueduct stenosis. A 3-year-old boy presented with a peracute hemiparesis, fatigue and speech deficit. MRI diagnostics showed a cystic, partially solid, inhomogeneous contrast-enhancing formation at the top of the tectum mesencephali with consecutive aqueduct compression. The patient underwent a sub-occipital craniotomy via a supracerebellar approach and complete resection was achieved. The histopathological examination mainly showed mature tissue of ectodermal, mesodermal and endodermal origin. However, small areas of undifferentiated neuroectodermal tissue within an optic vesicle formation were detected, leading to the diagnosis of an immature teratoma. In due course, the patient was discharged in good health without neurological deficits. To our knowledge, optic vesicle-containing intracranial germ cell tumors are extremely rare. Here we report a unique case with immature neuroectodermal tissue within an optic vesicle formation in an otherwise mature teratoma.

Clinical diagnostic dilemma of intracranial germinoma manifesting as wide skull base extension.

The aims of this study were to present an uncommon intracranial germinoma manifesting as skull base extension and analyze its clinical characteristics to give valuable insight into such uncommon radiologic variant. This is a clinical study of a 15-year-old girl with intracranial germinoma manifesting as skull base extension. Clinical characteristics, magnetic resonance imaging scan observations, pathologic findings, and flow of the treatment procedure were presented and analyzed. She had a 5-month history of diuresis and diplopia. magnetic resonance imaging observation displayed a neoplasm located in the right-side central skull base and suprasellar area with wide extension into the cavernous sinus, intraorbital region, ethmoidal sinus, sphenoid sinus, and pituitary fossa. After administration of contrast medium, strong and heterogeneous enhancement of the mass was observed, with a dural tail sign along the right cerebellar tentorial. Right pterional approach was performed, and intraoperative histologic examination suspected the diagnosis of germinoma; partial resection was achieved, and postoperative radiotherapy was administered. Cranial nerve palsy improved greatly 6 months postoperatively. Although highly unusual, germinoma should be included in the differential diagnosis of all masses with extension along the midline region of skull base, especially when it happens in young female patients.

Spontaneous regression of germinoma in the pineal region before endoscopic surgery: a pitfall of modern strategy for pineal germ cell tumors.

Since its introduction in the neurosurgical field, neuroendoscopy has played an important role in the treatment of pineal germ cell tumors. The authors report a case of pineal germinoma revealing spontaneous regression before neuroendoscopic surgery. A 15-year-old boy presented with chronic headache, deterioration of his visual acuity, and diplopia. Head magnetic resonance imaging (MRI) revealed a large tumor in the pineal region and triventricular hydrocephalus due to occlusion of the aqueduct. As levels of tumor markers in serum and cerebrospinal fluid, including those of alpha-fetoprotein, carcinoembryonic antigen, human chorionic gonadotropin (hCG), and the beta-subunit of hCG, were all within the normal ranges, endoscopic surgery for biopsy and third ventriculocisternostomy was performed. Under endoscopic view, the tumor was revealed to be smaller than expected from preoperative images. MRI obtained 14 days after admission disclosed marked shrinkage of the tumor. The histopathological diagnosis was pure germinoma, and the patient underwent chemotherapy combined with fractionated radiotherapy. The tumor disappeared, and the patient did not show any signs of relapse. Spontaneous regression is a very rare phenomenon in malignant brain tumors, and in the literature it has been uncommonly described in pineal germ cell tumors. Our case disclosed a pitfall of modern strategy for this pathology with neuroendoscopy. Dilated ventricles and a certain amount of lesion are factors for safe endoscopic biopsy of pineal tumors. Radiographic images shortly before surgery are warranted, especially in patients whose symptoms of intracranial hypertension have already improved before surgery.

Neurology_Adams

Vomiting appears in a relatively small number of patients with a tumor syndrome and usually accompanies the headache when the latter is severe. It is more frequent with tumors of the posterior fossa. The most persistent vomiting (lasting several weeks) that we have observed has been in patients with low brainstem gliomas, fourth ventricular ependymomas, and subtentorial meningiomas. Some patients may vomit unexpectedly and forcibly without preceding nausea (“projectile vomiting”), a sign that is fairly specific to tumor in children, but others suffer nausea and severe discomfort. Usually the vomiting is not related to the ingestion of food, and, often, it occurs before breakfast.

[Deep sylvian meningioma: a case report of a child].

A case of deep sylvian meningioma without dural attachment in a 12-year-old boy was reported. He had been suffering from severe headache for a month. Neurological examination was normal. CT scan and MR images showed a well-enhanced 7 cm mass lesion with small cysts, located in the left sylvian fissure. Peritumoral edema was slight and the midline structures were minimally shifted in spite of its large size. A fronto-temporal craniotomy was made and the tumor was grossly totally removed. The tumor had no dural attachment and existed in the left sylvian fissure, involving the middle cerebral artery and its branches. The histological diagnosis was transitional meningioma without malignancy. The postoperative course was uneventful except for transient mild left oculomotor palsy for several days. He is doing well now one year after the surgery and follow-up MR images showed no recurrence. Intracranial meningioma is rare in children. According to the literature, meningioma in children is slightly more frequent in males. There is a higher incidence of lack of dural attachment and cystic tumors than in adults. Deep sylvian meningioma without dural attachment is also very rare. Including our case, 13 cases of deep sylvian meningioma were reported in the literature. Four of them were under 20 years old. We report this case in detail with other cases reported previously.

Lung carcinoma metastasis presenting as a pineal region tumor.

The pineal region is an unusual site for brain metastasis and most metastatic pineal lesions are asymptomatic. A 53 year-old man presented with severe headache, limitation of upward gaze and diplopia. The patient's neurological examination was unremarkable. Magnetic resonance imaging (MRI) scans of the brain demonstrated a 1.5 x 2 cm well demarcated solitary mass in the pineal region with hydrocephalus. Surgery was performed and adenocarcinoma was diagnosed. A systemic investigation revealed adenocarcinoma of the lung as primary lesion. Although rare, metastatic tumor should be considered in the differential diagnosis of pineal region tumors.

Primary medulla oblongata germinoma: a case report and review of the literature.

We describe a case of primary intracranial medulla oblongata germinoma in a 16-year-old girl who presented with progressive headache and blurred vision. Magnetic resonance imaging demonstrated a heterogeneous exophytic mass arising from dorsal aspect of medulla oblongata with extension into fourth ventricle. The differential diagnosis for this patient had included ependymoma, exophytic glioma, medulloblastoma and choroid plexus papilloma. After surgical resection and radiation therapy, she remains alive and recurrence-free for 7 years.

[Pretectal syndrome caused by a plaque of multiple sclerosis].

We report a 20-year-old woman who presented with pretectal syndrome. She was well until September 12, 1991 when she noted an onset of difficulty in focusing her eyes. On neurologic examination, she showed convergence-retraction nystagmus and restriction of vertical eye movements more in the upward direction. A cranial CT scan revealed no abnormality. An oligoclonal band was detected in CSF. An MRI using Hitachi MRH-500 (0.5 T) revealed an abnormal high signal intensity lesion at the ventral area of the midbrain aqueduct, and another small lesion in the temporal white matter on the left. In addition, periventricular scattered small lesions were also visualized. Hydrocephalus, tumors and cerebrovascular disorders are common causes of pretectal syndrome, but multiple sclerosis is a rare one. Problems associated with the similar terminologies including Parinaud's syndrome, sylvian aqueduct syndrome or dorsal midbrain syndrome were discussed. According to Ranalli (1988), fibers mediating the upward gaze originate in the rostral interstitial MLF (riMLF), cross through the posterior commissure, and terminate in the contralateral oculomotor complex. On the other hand, downward gaze fibers take another route to the oculomotor complex. This may be a reason for the dissociation of the upward and downward gaze palsy, and the riMLF seems to be one of the most important structures responsible for the upward gaze.

Occult leptomeningeal large cell medulloblastoma in an adult.

Large cell medulloblastoma is an uncommon malignancy of childhood that often pursues an aggressive clinical course. We report the first case of this entity in an adult that proved to be an unsuspected primary leptomeningeal tumor. A 30-year-old man complained of worsening neck pain over the course of 3 months. Neck pain increased a few days prior to admission and a cervical spine CT revealed tonsillar herniation. Cervical spine MRI performed the day prior to admission confirmed the diagnosis of Chiari I malformation and C3-4 disk herniation without spinal cord compression. On the day of admission, the patient became unresponsive and resuscitative measures were unsuccessful. Postmortem examination of the brain was notable for necrotic cerebellar tonsils, but demonstrated no evidence of an intraparenchymal mass lesion. Microscopic examination of the cerebellum revealed discohesive neoplastic cells, which showed characteristic dot-like immunoreactivity for synaptophysin, diagnostic of large cell medulloblastoma within the subarachnoid space. Our experience with this unique case illustrates the challenges of diagnosing a primary leptomeningeal neoplasm. This case also underscores the importance of maintaining a high degree of suspicion for leptomeningeal neoplasms in patients who present with imaging studies suspicious for Chiari I malformation.

Calcifying pseudoneoplasm of the neuraxis (CaPNoN): an unusual cause of third nerve palsy in a teenager.

An 18-year-old part-time teacher presented with headache and diplopia. Physical examination showed partial left oculomotor palsy. Neurology examination was otherwise unremarkable. Cross-sectional imaging was arranged for investigation of third nerve palsy. On CT scan, the lesion was calcified, and on MRI, hypointense on <iT</i <sub1</sub and <iT</i <sub2</sub weightedimages with thin rim enhancement, resembling an atypical meningioma. CT angiogram showed no vascular connection. Following worsening diplopia and a slight increase in lesion size on follow-up MRI, the patient was re-reviewed in our regional skull base multidisciplinary team meeting, where a decision for excision was made. Pre-operatively, the absence of a vascular connection was confirmed on catheter angiogram. Histopathological examination demonstrated features typical of calcified pseudoneoplasm of the neuraxis, with extensive metaplastic calcification with stroma containing variable fibrovascular tissue and focal inflammatory cell infiltrates, spindle and epithelioid cells, and psammoma bodies at the rim of the lesion. Following surgery, the patient had persisting diplopia. He remains under clinical review. As surgical resection is considered curative, no further imaging follow-up is planned.

Ambiguity in the Dural Tail Sign on MRI.

Meningiomas give rise to the dural tail sign (DTS) on contrast-enhanced magnetic resonance imaging (CEMRI). The presence of DTS does not always qualify for a meningioma, as it is seen in only 60-72% of cases. This sign has been described in various other lesions like lymphomas, metastasis, hemangiopericytomas, schwannomas and very rarely glioblastoma multiforme (GBM). The characteristics of dural-based GBMs are discussed here, as only eleven such cases are reported in the literature till date. Here we discuss the unique features of this rare presentation. A 17-year-old male presented to the emergency department (ED) with, complaints of headache, recurrent vomiting, vision loss in right eye and altered sensorium. On examination patient was drowsy with right hemiparesis, secondary optic atrophy in the right eye and papilledema in the left eye. MRI brain showed, heterogeneous predominantly solid cystic lesion with central hypo-intense core suggestive of necrosis with heterogeneous enhancement and a positive DTS. Patient underwent emergency left parasagittal parieto-occipital craniotomy and gross total tumor excision including the involved dura and the falx. On opening the dura, tumor was surfacing, invading the superior sagittal sinus and the falx, greyish, soft to firm in consistency with central necrosis and highly vascular suggesting a high-grade lesion. Postoperative computed tomography (CT) of the brain showed evidence of gross total tumor (GTR) excision. The postoperative course of the patient was uneventful. Histopathological analysis revealed GBM with PNET like components. The dura as well as the falx were involved by the tumor. GBMs can arise in typical locations along with DTS mimicking meningiomas. Excision of the involved dura and the falx becomes important in this scenario, so as to achieve GTR. Hence high index of suspicion preoperatively aided by Magnetic Resonance Imaging (MRS) can help distinguish GBMs from meningioma, thereby impacting upon the prognosis.

Pediatrics_Nelson

Brain tumors are the second most common neoplasm in children. About 50% arise from within the posterior fossa. Tumors that arise in the posterior fossa or brainstem produce progressive ataxia with headache that may be acute or gradual in onset. There is a progressive worsening over days, weeks, or months, typically with associated signs and symptoms of elevated intracranial pressure. The ataxia and dysmetria may result from primary cerebellar invasion or from obstruction of the CSF pathways (aqueduct of Sylvius or fourth ventricle) with resultant hydrocephalus. The most common tumors in this region include medulloblastoma, ependymoma, cerebellar astrocytoma, and brainstem glioma.

Atypical teratoid/rhabdoid tumor of the pineal region in an adult.

An atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant embryonal tumor most often occurring in the posterior fossa in children younger than 3 years of age. Adult cases of AT/RT are very rare, and 27 cases with a diagnosis of either AT/RT or (malignant) rhabdoid tumor have been reported to date. The authors report an adult case of an AT/RT occurring in the pineal region with molecular cytogenetic and immunohistochemical confirmation. A 33-year-old woman presented with a 2-month history of headache and blurred vision progressing to diplopia, and was admitted emergently due to deteriorating mental status. An MR image showed a heterogeneously enhancing mass involving the posterior third ventricle and pineal region with mild hydrocephalus. She underwent a subtotal resection of the tumor and was then treated with chemoradiation. Thirteen months after surgery, she was still alive with radiological evidence of recurrence/residual lesions. Histological sections showed epithelioid cellular sheets of rhabdoid tumor cells with scattered mitotic figures. Immunohistochemically, the tumor cells were diffusely and strongly positive for epithelial membrane antigen and vimentin, and showed focal expression of glial fibrillary acidic protein, pancytokeratin, and neurofilament protein. Loss of nuclear immunoreactivity for INI1 protein was observed. Fluorescence in situ hybridization analysis showed monosomy 22. Histologically, this tumor consisted exclusively of epithelioid tumor cells with rhabdoid features. The differential diagnoses include rhabdoid glioblastoma, metastatic carcinoma, and rhabdoid meningioma. Molecular testing to identify monosomy 22 or deletions of the chromosome 22q11 containing the INI1/hSNF5 gene and/or immunohistochemical staining with INI1 antibody is of great importance for the diagnosis of this tumor.