Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0151825 (bone pain)
 3,118 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Membranous lipodystrophy (ML) is a rare hereditary disorder of adipose tissue characterized by polycystic bone lesions and progressive dementia. We describe the case of a 36-year-old woman with mechanical bone pain. Routine laboratory analyses revealed only a type IV hyperlipoproteinemia and hyperexcretion of urinary calcium. Roentgenograms of short and long bones showed symmetrical, well-defined, non-expansile cystic lesions. Bone biopsy found a yellow lipid-like substance in the osteolytic lesions and histopathological studies were non-specific. Neuropsychiatric examination, including cranial computerized tomography (CT), was found to be normal. According to clinical, analytical, radiological and histological findings ML was the diagnosis. No previous cases of ML have been reported in our country as we review the literature concerning this disease.
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PMID:Membranous lipodystrophy. Case report and review of the literature. 1456 67