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)

A 37-year-old male with cerebrotendinous xanthomatosis showed brain abnormal MRI findings and osteoporosis. His parents had no similar symptoms. He had mental retardation since childhood. Swelling of Achilles tendons was noticed at age 28, and gait disturbance appeared at age 34. Physical examination revealed bilateral cataracts and swelling of Achilles tendons. Neurologically, he showed mental retardation, cerebellar ataxia and spastic tetraparesis. Cerebrotendinous xanthomatosis was diagnosed by marked elevations of serum cholestanol level (24.3 micrograms/ml) and cholestanol/cholesterol ratio (1.81%) as well as characteristic clinical manifestations. On brain MRI study, T2-weighted sequence showed bilateral focal lesions with high intensity signal in the globus pallidus and cerebellar white matter adjacent to the dentate nucleus, and T1-weighted sequence showed low to iso-intensity signal in the same regions. These findings suggested demyelination rather than xanthoma or lipid infiltration. Radiological examination showed mild osteoporosis of lumbar bone. However, serum levels of vitamin D3 and calcitonin were within normal range, and renal function was normal. Osteoporosis in this patient possibly resulted from disuse bone atrophy for several years. The combination therapy of oral administration of chenodeoxycholic acid and HMG-CoA reductase inhibitor (pravastatin), and LDL apheresis slightly improved EEG abnormality and gait disturbance, but not brain MRI abnormality.
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PMID:[Cerebrotendinous xanthomatosis--a case of brain MRI abnormality and osteoporosis]. 133 27

The clinical features and additional investigations of 20 Dutch patients suffering from cerebrotendinous xanthomatosis (CTX), an inborn error of metabolism in bile acid synthesis, are described. The onset was in the second or third decade. The clinical picture at the time of examination consisted of a combination of two or more of the following signs: cataract, xanthoma of a tendon, mental deterioration, pyramidal tract signs, cerebellar signs and epilepsy. Mental retardation was reported in patients. CT-scanning showed cerebellar hypodensity in 8 out of 16 patients but this feature did not correlate well with cerebellar signs. The EEG was abnormal in all but one patient. Treatment with chenodeoxycholic acid resulted in a normalization of EEG and biochemical abnormalities but not of the clinical signs. Cholic acid was equally effective but had much less side effects. The importance of a diagnosis in early life is stressed as well as the examination of clinically unaffected heterozygous relatives.
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PMID:Cerebrotendinous xanthomatosis (CTX): a clinical survey of the patient population in The Netherlands. 366 90

Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene. The accumulation of cholestanol in various tissues characterizes this disease. Diagnosis is based on determination of urinary bile alcohols. Therapy with chenodeoxycholic acid may arrest the progression of the disease. A 55-year-old woman presented with a slowly progressive paraparesia and two firm subcutaneous tumors over the knees. Her medical history revealed difficulty in standing and walking since infancy, bilateral juvenile cataracts, and mental retardation. Histopathologic examination of one subcutaneous tumor was consistent with tendinous xanthoma. Substantial elevation of urinary bile alcohols confirmed the diagnosis. Treatment with oral chenodeoxycholic acid was started, with only mild improvement of spasticity. Recognition of tendon xanthomas in a young patient with neurologic symptoms or cataracts (or both) is crucial to start early treatment and to avoid irreversible neurologic sequelae.
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PMID:Cerebrotendinous xanthomatosis. 1146 94