Congenital axonal neuropathy and encephalopathy.
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.
Chau
Vann
V
Division of Neurology, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.
Clément
Jean-François
JF
Robitaille
Yves
Y
D'Anjou
Guy
G
Vanasse
Michel
M
D001369:Axons; D001927:Brain Diseases / Q000151:congenital* / Q000175:diagnosis / Q000378:metabolism; D002170:Canada; D015331:Cohort Studies; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008869:Microtubule-Associated Proteins / Q000378:metabolism; D009431:Neural Conduction / Q000502:physiology; D010523:Peripheral Nervous System Diseases / Q000151:congenital* / Q000175:diagnosis / Q000378:metabolism; D011379:Prognosis; D012189:Retrospective Studies
D008869:Microtubule-Associated Proteins