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Phenotype variability in adrenoleukodystrophy. Presentation of three new cases and a review of literature



Phenotype variability in adrenoleukodystrophy. Presentation of three new cases and a review of literature



Revista de Neurologia 24(131): 843-847



Adrenoleukodystrophy is a hereditary recessive sex-linked disorder with very variable phenotype expression, including classical infantil ALD, adrenomyeloneuropathy (AMN) in adults and sex-linked Addison's disease. Clinical observations. Three affected patients are presented. The first showed signs of myeloneuropathy from the age of 38 and diagnosis was made by showing raised serum and fibroblasts levels of very long chain fatty acids (C26:0). In the second case symptoms started at the age of 13 and cerebral and peripheral nervous system changes developed progressively. This patient's brother was the third case, showing symptoms when he was 21 and developing cerebral, medullary and peripheral nervous system involvement. In the latter two cases, diagnosis was made by showing intracytoplasmatic trilaminary inclusions in the nervous system. It is important to recognize the different varieties of this disease in view of the possibilities of genetic counselling and of the therapeutic implications which are currently being evaluated.

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Accession: 046973710

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PMID: 8681200


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