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

Abstract:

INTRODUCTION: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. CONCLUSIONS: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.

journal_name

Rev Neurol

journal_title

Revista de neurologia

authors

Ara JR,Carod FJ,Errea JM,Giménez-Más JA,Girós M,Marzo ME,Manubens JM

subject

Has Abstract

pub_date

1996-07-01 00:00:00

pages

843-7

issue

131

eissn

0210-0010

issn

1576-6578

journal_volume

24

pub_type

杂志文章
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  • [Analysis of a series of cases with an initial diagnosis of acute disseminated encephalomyelitis over the period 2000-2010].

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