ResearchPad - endocrine-neoplasia-case-reports-iii Default RSS Feed en-us © 2020 Newgen KnowledgeWorks <![CDATA[SAT-LB308 Primary Hyperparathyroidism and Meningioma as a Part of Multiple Endocrine Neoplasm Type 1 (MEN Type 1)]]> Background: Meningioma is a rare association of Multiple endocrine neoplasia type 1 (MEN 1) and very few cases has been reported in literature. Clinical Case: a 75-year-old woman showed severe headache, disturbed consciousness and convulsions. A diagnosis of cerebral meningioma was made and surgical excision was done, histopathological examination confirmed meningioma; patient was transferred to the ICU postoperatively for monitoring. Patient’s consciousness was not regained in full and remained in delirium, follow up investigations revealed: serum calcium of 13.2 mg/dl (8.5 to 10.5 mg/dl), serum sodium 141 mmol/L (135-145 mmol/L) and potassium 4.9 mmol/L (3.5-5 mmol/L), serum parathormone of 850 pg/mL (10-65 pg/mL), primary hyperparathyroidism was suspected; further investigations revealed inferior parathyroid adenoma on ultrasound which elicited focal tracer uptake on sesta-mibi parathyroid scintigraphy. Patient did excision of the lesion and was confirmed by histopathological examination to be parathyroid adenoma. Patient recovered well postoperatively, consciousness was regained and no neurological defects ware present. Genetic studies where performed and was found positive for MEN type 1 gene. Whole body Ga-DOTATATE PET/CT was then done to exclude any associated tumors and no tracer uptake was found. Patient was discharged, family members were offered genetic analysis and were counselled on the importance of screening. Conclusion: MEN type 1 can rarely present with meningiomas with symptoms very similar and easily confused with hypercalcemia and the diagnosis can be missed.

<![CDATA[SAT-LB304 A Rare Case of Atypical Teratoid/Rhabdoid Tumor of Sellar Region in an Adult]]> Introduction:

Atypical teratoid/rhabdoid tumor(ATRT) is an aggressive tumor of the central nervous system mostly seen in the pediatric age group. It is rare for these tumors to occur in adults, especially in the sellar region. Here we describe a case of ATRT of sellar region with rapidly progressive confusion and panhypopituitarism.

Case report: 58-year-old Caucasian woman presented with complaints of headache, generalized weakness, nausea and anorexia. Patient was also noted to be confused throughout her presentation and unable to provide detailed history. She also complained of blurring of vision and was noted to have visual field loss by her ophthalmologist. CT head without contrast revealed a sellar mass with suprasellar extension which is 2.5 x 2.4 x 3.5 cm with mass-effect on the base of anterior third ventricle. Blood work showed an A.M cortisol of 0.2 mcg/dL(6.2-19.4), prolactin of 62.6 ng/mL(4.8-22.3), TSH of 2 mIU/L(0.27-4.20) and free T4 of 0.36 ng/dL [0.80-1.90]. Cosyntropin stimulation test showed a 30-minute cortisol of 2.8 mcg/dL and a 60-minute cortisol of 4 mcg/dL. She was also noted to have hypernatremia with serum sodium upto 151 mmol/L(136-145). She was started on levothyroxine 88 mcg, DDAVP 0.1 mg PO twice daily and stress dose steroids which was weaned down to prednisone 7.5 mg daily eventually. MRI revealed 2.1 cm sellar mass with 3.1 cm suprasellar extension and rapidly progressive increase in size over several weeks period. Patient initially underwent left frontal midline craniotomy via transcallosal approach for resection of third ventricular and supra sellar tumor. For the residual tumor removal, she also underwent endoscopic resection of ATRT of brain via extended transnasal craniotomy with extensive nasoseptal flap repair of the skull base. Pathology revealed atypical teratoid/rhabdoid tumor of sellar region, WHO grade IV. The neoplastic cells characteristically show loss of INI-1 (SMARCB1), retained BRG1 (SMARCA4), focal weak positivity for EMA, Vimentin, Neurofilament (NF), CD56 and Cytokeratin AE1/AE3 is strongly positive. There is patchy non-specific immunoreactivity to PAX5 and PAX8. Hospital course was complicated by respiratory failure, NSTEMI, encephalopathy and patient is currently receiving supportive care for the same. Patient will be receiving radiotherapy and chemotherapy for further management of ATRT.

Conclusion:This case represents a rare occurrence of ATRT and suggests the need for suspicion in case of rapidly growing pituitary mass with progressive panhypopititarism.

<![CDATA[SAT-LB307 Case of the Broken Hearted]]> <![CDATA[SAT-LB310 A Mysterious Multiple Endocrine Neoplasia (MEN) Like Syndrome]]> T (p.Ser5Leu) and PTCH2 c.2812G>A (p.Gly938Ser). Patient successfully underwent left adrenalectomy after alpha blockage. Paired tumor-normal sequencing of the resected tumor detected a pathogenic deletion frameshift mutation in NF1 with loss of heterozygosity (LOH) along with copy number alterations with losses in 1p34.1-p11.2, 11p11.2-15.4, 11q14.1-q25 and 17q11.2 (including NF1). VUSs were also detected including CDKN1A C117Y variant, and CHD2P80L. Since germline and tumor testing failed to reveal any known pathogenic variants, whole exome sequencing (pending) will be pursued.The presentation with RCC, pheochromocytoma, pituitary adenoma and parathyroid adenoma is consistent with a MEN syndrome in this patient despite no known pathogenic MEN mutations detected. Somatic mutation in NF1 is a common finding in pheochromocytoma. The biochemical phenotype of pheochromocytoma (elevated metanephrines) is consistent with cluster 2 tumors of kinase signaling pathway as seen in tumors of MEN syndrome and neurofibromatosis. We hope to gain more insight via whole exome sequencing to evaluate for potential novel gene mutation(s). ]]> <![CDATA[SAT-LB302 From Urolithiasis to Genetic Testing: An Unusual Presentation of MEN-4 Syndrome]]> <![CDATA[SAT-LB313 A Unicorn With Double Horns - Metastatic Paraganglioma in a Patient With Beckwith-Wiedemann Syndrome and Hereditary Paraganglioma Syndrome Iv]]> 40% of metastatic PPGLs are related to an SDHB mutation). Hereditary PGL syndromes should be suspected in the case of PGLs that are recurrent, early onset (<45 years), extra-adrenal and/or metastatic. With additional genetic testing, our patient with an already rare growth disorder was found to have hereditary PGL syndrome IV caused by a pathogenic mutation in the SDHB gene. This unique case highlights the rationale and importance of systematic genetic cancer screening in the diagnostic evaluation of PPGLs. ]]> <![CDATA[SAT-LB303 Severe Refractory Volume Overload With Diazoxide in the Treatment of Insulinoma]]> <![CDATA[SAT-LB309 Amphotericin B Induced Hypocalcemia in a Patient With Severe Hypercalcemia Due to Acute T-Cell Leukemia/Lymphoma]]> <![CDATA[SAT-LB312 Central Diabetes Insipidus as Presenting Manifestation of Suprasellar Epidermoid Cyst]]> <![CDATA[SAT-LB314 Not That Sweet Honeymoon: A Case of Proinsulinoma]]> <![CDATA[SAT-LB301 Hyperaldosteronism From Adrenal Adenoma in a Young Patient]]> <![CDATA[SAT-LB306 A Case of Synchronous Non-Functioning Paraganglioma of the Urinary Bladder and Prostate Cancer]]> <![CDATA[SAT-LB305 Concurrent Peri-Adrenal Paraganglioma and Renal AngiomyolipomaComplicated by Toxic Multinodular Goiter]]> <![CDATA[SAT-LB311 Inoperable, Metastatic Pheochromocytoma & Paraganglioma Tumor Size Reduction After Lu-177-dotatate (Lutathera®) Treatment Trial: The Role of Nursing]]>