MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B: A CASE REPORT
نویسندگان
چکیده
منابع مشابه
A family presenting with multiple endocrine neoplasia type 2B: A case report
INTRODUCTION Multiple endocrine neoplasia 2B, a rare autosomal dominant syndrome, is characterized by early onset of medullary thyroid carcinoma, pheochromocytoma, marfanoid habitus and mucosal neuromas of the tongue, lips, inner cheeks and inner eyelids. Gangliomatosis of the gastrointestinal tract and its complications may also occur in patients with this disease. CASE PRESENTATION We prese...
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We present a 15-year-old female patient with medullary thyroid carcinoma, marfanoid habitus, and mucosal ganglioneuromatosis. Our case had a RET protooncogene mutation ser836 polymorphism in exon 14 and ser904 polymorphism in exon 15. Our patient is thought to be atypical MEN2B due to the absence of M918T or A883F mutations. Chilaiditi sign is an incidental radiographic finding of a usually asy...
متن کاملMultiple endocrine neoplasia type 2B in a Chinese patient.
Multiple endocrine neoplasia type 2B syndrome is rarely reported in Chinese patients. A 25-year-old Chinese male presented with full-blown clinical features of this syndrome, including bilateral phaeochromocytomas, medullary thyroid carcinoma, and characteristic phenotypic features. One-stage surgical treatment was performed and subsequent genetic analysis confirmed a point mutation at codon 91...
متن کاملMultiple endocrine neoplasia type IIa: a case report.
The authors reported a twelve year and four-month old girl who had prolonged fever for 2 weeks. Physical examination revealed a painless enlarged thyroid gland with firm consistency. Hyperparathyroidism was suspected because of hypercalcemia, hypophosphatemia, high level of serum alkaline phosphatase, and decreased density of long bones. Thyroid scan showed a cold nodule of the left upper lobe ...
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ژورنال
عنوان ژورنال: Almanac of Clinical Medicine
سال: 2016
ISSN: 2072-0505
DOI: 10.18786/2072-0505-2016-44-4-535-539