Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 10-year-old girl was admitted displaying a medullary thyroid carcinoma, accompanying neurinomas of the tongue, marfanoid habitus, megacolon, and scoliosis. Although her adrenal glands were found to be unremarkable on both CT and ultrasonogram examination an MIBG scintiscan showed a 131-1 uptake, suggesting the presence of medullary hyperplasia. Remarkable nodal involvement with invasive features witnessed in the upper mediastinum during tertiary surgery four years later, following a total thyroidectomy. The TCT and CEA profiling was not sufficient enough to predict a recurrence. At the present state there is difficulty in providing an early diagnosis; through node dissection, however, is considered to be necessary at time of primary thyroid operation in cases with MEN type 2b.
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PMID:[A case report of multiple endocrine neoplasia type 2b]. 288 74

There are three types of familial multiple endocrine neoplasia, but type 2b, which is characterized by medullary thyroid carcinoma, pheochromocytoma, and ganglioneuromatosis, is the only one in which patients also have skeletal anomalies. These musculoskeletal abnormalities include marfanoid habitus, pes cavus, talipes equinovarus, slipped capital femoral epiphysis, kyphosis, scoliosis, lordosis, increased joint laxity, and weakness of the proximal muscles of the extremities. Affected patients have several facial abnormalities as well, the most striking being enlargement of the lips. Therefore, when a patient is seen with one or more of these musculoskeletal defects, the diagnosis of type-2b multiple endocrine neoplasia should be considered. If the characteristic facial features of the disorder are present, the patient should have a prompt examination for medullary thyroid carcinoma and pheochromocytoma.
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PMID:Multiple endocrine neoplasia with skeletal manifestations. 611 Jun 69