Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A young woman presented a mixed congenital and familial immunodeficiency syndrome consisting in an absence of IgA and lowered levels of IgG and IgM, with a defect in cellular immunity. She had a mild malabsorption syndrome with slight alterations of the jejunal mucosa. Non-caseating tuberculoid granulomata were found in skin lesions, in lymph nodes and in the spleen. At age 27 the patient died of a neurological disease of 4 months duration. Autopsy revealed a very widespread demyelinating process involving mainly the right cerebellar hemisphere but also most of the pons and left cerebellum, with the typical morphologic characters of PML. In the hemispheres lesions were limited to microscopical "microglial nodules" with discrete demyelination. A review of 86 published cases of PML revealed 9 other cases in which lesions showed a strong predilection for the subtentorial territories. This sampling allows for tha assumption that some 11% of the cases of PML have this particular lesion distribution. Other pertinent features of this case are briefly discussed.
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PMID:[Progressive multifocal leucoencephalopathy. Observation with predominant pontocerebellar lesions and association with congenital immune deficiency]. 87 53

A 46-year-old man with nontropical sprue had anemia and hypoproteinemia for several years, until his condition was diagnosed and treated with dietary measures. Within a year after the diagnosis, progressive multifocal leukoencephalopathy developed, and the patient had a slightly fluctuating chronic downhill course until he died 10 years later. It is postulated that this patient's immune deficiency was related to his malabsorption syndrome and hypoglobulinemia, and the course became unusually protracted (longest reported course in the American literature) because of restoration of plasma protein levels. Autopsy showed the classic findings of progressive multifocal leukoencephalopathy, with much tissue loss of subcortical white matter and active perivascular inflammatory foci with numerous eosinophilic granulocytes. On electron microscopy, oligodendrocyte nuclei and cytoplasm were crowded with virions, but many myelin sheaths invested by severely infected oligodendrocytic processes were remarkably well preserved. This fact would argue against a direct cause-and-effect relationship between infection of oligodendrocytes and myelin breakdown in progressive multifocal leukoencephalopathy. The likelihood of an autoimmune mechanism at work in this disease is suggested, and the role of eosinophils and other cells in such process is considered.
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PMID:Progressive multifocal leukoencephalopathy with 10-year survival in a patient with nontropical sprue. Report of a case with unusual light and electron microscopic features. 123 16