Document Detail

Neuronal and vascular disorders of the brain and spinal cord in Menkes kinky hair disease.
MedLine Citation:
PMID:  3130871     Owner:  NLM     Status:  MEDLINE    
A 3 2/12-year-old boy had recurrent seizures, chronic respiratory infection, and delayed physical and mental development. He also had low plasma copper content typical of Menkes syndrome. Autopsy showed marked neuronal loss and gliosis in most areas of the cerebral and cerebellar cortices, midbrain, pons, and medulla. The spinal cord showed severe demyelination in both ascending (spinocerebellar) and descending (lateral corticospinal) tracts from the cervical to the sacral level. In addition to these neuronal lesions, both the meningeal and parenchymal arterial and venous branches were remarkably dilated in the brain and spinal cord. Our previous study of this case showed abnormal perivascular innervation and abnormal axonal swelling of the postganglionic adrenergic fibers elsewhere in the body. The metabolic disorder caused by copper deficiency induces severe neuronal degeneration that is apparently exaggerated by extensive and progressive vascular abnormality.
H Uno; S Arya
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics. Supplement     Volume:  3     ISSN:  1040-3787     ISO Abbreviation:  Am J Med Genet Suppl     Publication Date:  1987  
Date Detail:
Created Date:  1988-07-05     Completed Date:  1988-07-05     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8706133     Medline TA:  Am J Med Genet Suppl     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  367-77     Citation Subset:  IM    
Wisconsin Regional Primate Research Center, Madison.
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MeSH Terms
Brain / blood supply,  pathology*
Brain Diseases, Metabolic / pathology*
Child, Preschool
Demyelinating Diseases / genetics,  pathology
Menkes Kinky Hair Syndrome / genetics,  pathology*
Nerve Degeneration
Spinal Cord / blood supply,  pathology*
Grant Support

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