Adrenoleukodystrophy: report of a familial case
| Autor: | I. Fettes, D. W. Killinger, Robert Volpé |
|---|---|
| Rok vydání: | 1979 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Cerebrum business.industry Endocrinology Diabetes and Metabolism Lipid metabolism Neurological disorder Disease medicine.disease Primary Adrenal Insufficiency Leukodystrophy Globoid Cell Endocrinology medicine.anatomical_structure Internal medicine medicine Adrenal insufficiency Humans Adrenoleukodystrophy business Hypogonadotrophic hypogonadism Adrenal Insufficiency |
| Zdroj: | Clinical endocrinology. 11(2) |
| ISSN: | 0300-0664 |
| Popis: | SUMMARY Adrenoleukodystrophy is an unusual disorder in which progressive diffuse demyelination of the cerebrum is associated with adrenal insufficiency, and which is transmitted as a sex-linked recessive trait. This report describes a 36-year-old male, who first presented 12 years previously with hypogonadotrophic hypogonadism. It is only more recently that he has developed primary adrenal insufficiency, as well as a neurological disorder characterized by cerebellar, pyramidal tract and cerebral cortical abnormalities. One brother died at age 7 with Schilder's disease, while another brother suffered adrenal insufficiency, progressive mental and neurological deterioration and death at age 38, with post-mortem evidence of adrenoleukodystrophy. Histological studies have revealed cytoplasmic striated inclusions, which proved to be lipid in nature, but the precise defect in lipid metabolism has yet to be clarified. |
| Databáze: | OpenAIRE |
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