Congenital hypomyelination neuropathy (CHN) is characterized by congenital or early onset, marked reduction in the conduction velocities and, on histologically viewpoint, totally absent or severely reduced myelin with atypical onion bulbs essentially composed of double layered Schwann cell basal membrane without myelin (Lyon type). Such disease is transmitted in an autosomal recessive manner. We report the case of a 5 year-old boy affected by inherited sensory-motor neuropathy with early onset, severely low conduction velocities and morphological features on sural nerve consistent with the diagnosis of CHN. Whether such disease represents a distinct entity is discussed.
|Number of pages||4|
|Journal||Rivista Italiana di Pediatria|
|Publication status||Published - 1995|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health