title: Peripheral neuropathy in the Chediak-Higashi syndrome.
abstract: The clinical features of a brother and sister with the Chediak-Higashi syndrome (CHS) are reported. Both showed evidence of a sensory neuropathy associated with central nervous system involvement. Nerve conduction studies indicated an "axonal" neuropathy. Sural nerve biopsy in the brother demonstrated a loss of myelinated nerve fibres, particularly those of larger size, and of unmyelinated axons. In contradistinction to some previous reports, giant lysosomes in Schwann cells were not observed and there were no inflammatory changes. Electron microscopy and teased-fibre studies showed no evidence of demyelination. It is concluded that the neuropathy of CHS is of axonal type. Its mechanism remains obscure.
authors.affiliation: Department of Neurological Science, Royal Free Hospital School of Medicine, London, UK.
authors.forename: V P
authors.initials: VP
authors.lastname: Misra
authors.forename: R H
authors.initials: RH
authors.lastname: King
authors.forename: A E
authors.initials: AE
authors.lastname: Harding
authors.forename: J R
authors.initials: JR
authors.lastname: Muddle
authors.forename: P K
authors.initials: PK
authors.lastname: Thomas
mesh_terms: D000328:Adult; D002609:Chediak-Higashi Syndrome / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009422:Nervous System Diseases / Q000473:pathology*; D010525:Peripheral Nerves / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology