Document Detail

Congenital axonal neuropathy and encephalopathy.
MedLine Citation:
PMID:  18358405     Owner:  NLM     Status:  MEDLINE    
Congenital axonal neuropathy associated with encephalopathy appears to be very rare. Only a few cases have been reported in the literature. In the last 25 years, we have seen seven patients affected by congenital axonal neuropathy with encephalopathy. Biopsies of their sural nerves revealed axonal atrophy and loss of large-diameter nerve fibers. All of these patients presented at birth or soon thereafter with hypotonia associated with distal weakness and diffuse areflexia. Central nervous system manifestations included microcephaly, seizures, and developmental delay. Outcomes were poor. Four children died before age 3 years from respiratory insufficiency or aspiration pneumonia. The three surviving patients manifested severe developmental delay. In our most recent patient, Western-blot analysis of snap-frozen specimens of the temporal and cerebellar cortex demonstrated an absence or marked decrease of microtubule-associated protein types 1A and 2, compared with age-matched control subjects. Calloso-splenial hypogenesis and neurofilament swellings were also documented in the deep white matter and adjacent cortex. The absence or hypo-expression of central nervous system microtubule-associated proteins has never been reported in congenital neuropathies, and may represent a new clinicopathologic entity.
Vann Chau; Jean-François Clément; Yves Robitaille; Guy D'Anjou; Michel Vanasse
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  38     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2008 Apr 
Date Detail:
Created Date:  2008-03-24     Completed Date:  2008-07-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  261-6     Citation Subset:  IM    
Division of Neurology, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.
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MeSH Terms
Brain Diseases / congenital*,  diagnosis,  metabolism
Cohort Studies
Infant, Newborn
Microtubule-Associated Proteins / metabolism
Neural Conduction / physiology
Peripheral Nervous System Diseases / congenital*,  diagnosis,  metabolism
Retrospective Studies
Reg. No./Substance:
0/Microtubule-Associated Proteins

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