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Adrenoleukodystrophy in an adult female
- Source :
- Journal of Neurology. 235:1-9
- Publication Year :
- 1987
- Publisher :
- Springer Science and Business Media LLC, 1987.
-
Abstract
- A 43-year-old female with adrenoleukodystrophy (ALD) is described, who developed spastic tetraparesis, suffered grand mal seizures, and became stuporous and demented during the last 5 years of her life. Computed tomography revealed symmetrical hypodense lesions in the peritrigonal regions. Adrenal insufficiency was not evident except for skin pigmentation. The ultrastructure of a rectal biopsy specimen showed inclusions with lamellae and interspersed clefts in macrophages of the submucosal layer. At autopsy, the adrenals were found to contain large foam cells filled with similar inclusions. The brain cortex and the spinal cord were histologically normal. However, cerebral white matter exhibited widespread demyelination which spared only the arcuate fibres. In regions of less severe demyelination scattered inflammatory cells were seen. On electron microscopy, aggregates of typical paired leaflets with distinct intermediate lines were demonstrated in perivascular macrophages. Histochemical study showed these cells to contain free as well as esterified cholesterol. Gas chromatographic analysis of very long chain fatty acids (VLFA) from the demyelinated cerebral white matter showed a marked increase of C26:0 fatty acid in cholesterol esters and above-normal values for C24:0 and C24:1 in gangliosides. It is suggested that the condition was a heterozygote form of X-linked ALD. Patients with neurodegenerative symptoms with or without adrenal insufficiency can easily be screened for X-linked ALD by VLFA analysis in blood or cultured fibroblasts.
- Subjects :
- Adult
medicine.medical_specialty
Pathology
Molecular Conformation
Immunoglobulins
Autopsy
Biology
White matter
chemistry.chemical_compound
Internal medicine
Adrenal Glands
medicine
Adrenal insufficiency
Humans
Adrenoleukodystrophy
chemistry.chemical_classification
Cholesterol
Fatty Acids
Age Factors
Rectum
Brain
Fatty acid
Diffuse Cerebral Sclerosis of Schilder
medicine.disease
Spinal cord
Microscopy, Electron
medicine.anatomical_structure
Endocrinology
Neurology
chemistry
Ultrastructure
Female
Neurology (clinical)
Subjects
Details
- ISSN :
- 14321459 and 03405354
- Volume :
- 235
- Database :
- OpenAIRE
- Journal :
- Journal of Neurology
- Accession number :
- edsair.doi.dedup.....19e5722fc6e86618d5dd56b1fc47fbcf
- Full Text :
- https://doi.org/10.1007/bf00314189