title: Peripheral nervous system manifestations of Chediak-Higashi disease.
abstract: Chediak-Higashi disease (CHD) is a rare autosomal recessive disorder with hematologic, infectious, pigmentary, and neurologic manifestations. Classic CHD (C-CHD) presents in early childhood with severe infectious or hematologic complications unless treated with bone marrow transplantation. Atypical CHD (A-CHD) has less severe hematologic and infectious manifestations. Both C-CHD and A-CHD develop neurological problems.
  
  
  
  Eighteen patients with CHD (9 A-CHD and 9 C-CHD) underwent electrodiagnostic studies as part of a natural history study (NCT 00005917). Longitudinal studies were available for 10 patients.
  
  
  
  All A-CHD patients had either sensory neuropathy, sensorimotor neuropathy, and/or diffuse neurogenic findings. In C-CHD, 3 adults had sensorimotor neuropathies with diffuse neurogenic findings, and 1 adult had a sensory neuropathy. The 5 children with C-CHD had normal electrodiagnostic findings.
  
  
  
  CHD can result in sensory or sensorimotor neuropathies and/or a diffuse motor neuronopathy. It may take 2-3 decades for the neuropathic findings to develop, because children appear to be spared. Muscle Nerve 55: 359-365, 2017.
authors.affiliation: EMG Section, National Institute of Neurological Disorders and Stroke, 10 Center Drive MSC 1404, Building 10 CRC Room 7SW-5680NIH, Bethesda, Maryland, USA, 20892.
authors.forename: Tanya J
authors.initials: TJ
authors.lastname: Lehky
authors.affiliation: Office of the Clinical Director, Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
authors.forename: Catherine
authors.initials: C
authors.lastname: Groden
authors.affiliation: EMG Section, National Institute of Neurological Disorders and Stroke, 10 Center Drive MSC 1404, Building 10 CRC Room 7SW-5680NIH, Bethesda, Maryland, USA, 20892.
authors.forename: Barbara
authors.initials: B
authors.lastname: Lear
authors.affiliation: Office of the Clinical Director, Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
authors.forename: Camilo
authors.initials: C
authors.lastname: Toro
authors.affiliation: Office of the Clinical Director, Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
authors.forename: Wendy J
authors.initials: WJ
authors.lastname: Introne
mesh_terms: D000200:Action Potentials / Q000502:physiology*; D000293:Adolescent; D000328:Adult; D002609:Chediak-Higashi Syndrome / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D009431:Neural Conduction / Q000502:physiology*; D017933:Peripheral Nervous System / Q000503:physiopathology*; D055815:Young Adult
keywords: Chediak-Higashi disease; genetic disorders; neurodegeneration; peripheral nervous system; peripheral neuropathy