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Congenital axonal neuropathy and encephalopathy.

https://arctichealth.org/en/permalink/ahliterature158175
Source
Pediatr Neurol. 2008 Apr;38(4):261-6
Publication Type
Article
Date
Apr-2008
Author
Vann Chau
Jean-François Clément
Yves Robitaille
Guy D'Anjou
Michel Vanasse
Author Affiliation
Division of Neurology, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.
Source
Pediatr Neurol. 2008 Apr;38(4):261-6
Date
Apr-2008
Language
English
Publication Type
Article
Keywords
Axons
Brain Diseases - congenital - diagnosis - metabolism
Canada
Cohort Studies
Female
Humans
Infant, Newborn
Male
Microtubule-Associated Proteins - metabolism
Neural Conduction - physiology
Peripheral Nervous System Diseases - congenital - diagnosis - metabolism
Prognosis
Retrospective Studies
Abstract
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.
PubMed ID
18358405 View in PubMed
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