Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Gaucher disease is the most common lysosomal storage disorder. It is autosomal recessive in nature and results from mutations in the GBA gene coding for acid beta glucosidase. It is classified into three types based on CNS involvement and its severity. Type 3, or chronic neuronopathic Gaucher disease, generally has an onset in childhood and by definition, includes all patients with any form of neurologic involvement who have survived the first few years of life. Here we present a 36 year old male patient presenting with hip pain showing bilateral avascular necrosis of femoral head with massive splenomegaly and on evaluation, showed mental retardation, seizures, bilateral vertical and horizontal gaze palsies and eventually turned out to be type 3b Gaucher disease. This is the first case of Type 3 Gaucher disease being reported from India with mutation analysis and only case of Type 3 Gaucher disease in world literature showing R463C/Rec Nci I mutation.
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PMID:Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature. 2448 53

Dwarfism is a condition of extreme short stature. Total hip arthroplasty (THA) in patients with dwarfism is a very demanding procedure due to their specific joint deformity and small bone size, which increases the technical difficulty of the THA procedure in such patients with hip dysplasia. This current case report describes a 29-year-old female patient that was admitted due to shortening of the right lower limb, as compared with the contralateral side, which had been present for 18 years. She also complained of pain in the right hip that had been present for 2 months. The hip pain was aggravated by physical exertion, but relieved by rest. She had pituitary dwarfism without mental retardation or delayed sexual development and Crowe type IV dysplasia of the right hip. A THA combined with femoral shortening osteotomy was undertaken, which resolved the pain symptoms and improved her ability to undertake activities of daily living such as walking without pain. Dwarfism with hip dysplasia is a rare but extremely challenging problem that can be successfully treated with THA combined with femoral shortening osteotomy using an S-ROM stem.
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PMID:Total hip arthroplasty combined with subtrochanteric shortening osteotomy for Crowe type IV hip dysplasia in dwarfism: a case report. 3236 49