Subscribe to RSS
DOI: 10.1055/s-2008-1059575
© Georg Thieme Verlag KG Stuttgart · New York
Congenital Hypomyelination Neuropathy in a Newborn
Publication History
Publication Date:
19 March 2008 (online)

Abstract
A case of infantile neuropathy with signs of respiratory distress and impaired abdominal
movements from the neonatal period was reported.
Muscle biopsy revealed type II fiber predominance and atrophy, and the sural nerve
biopsy demonstrated the absence of myelin in almost all of the axons. Onion bulb formation
or myelin debris was not observed. The features of myelin deficit without active myelin
breakdown and onion bulb formation, and the finding of muscle pathology, indicating
the absence of spinal muscular atrophy, suggested that the case under study was identical
to that of hypomyelination neuropathy.
Peripheral neuropathy characterized by the excessive reduction or absence of myelination
is a rare condition and only about 10 such cases have been reported in the literature
(Lyon 1969, Joosten et al 1974, Karch et al 1975, Kasman et al 1976, Kennedy et al
1977, Moss et al 1979, Towfighi 1981).
A case of infantile neuropathy with defective myelination and respiratory distress
originating in the neonatal period was reported.
Key words
Hypomyelination neuropathy - Newborn - Respiratory - Distress