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Article

Inflammatory demyelinating neuropathy heralding accelerated chediak-higashi syndrome.

Muscle & nerve - 1 May 2017

Faber Ingrid Vasconcellos, Prota Joana Rosa Marques, Martinez Alberto Rolim Muro, Nucci Anamarli, Lopes-Cendes Iscia, Júnior Marcondes Cavalcante França

Abstract excerpt

INTRODUCTION: Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising. Survivors develop a constellation of slowly progressive neurological manifestations. METHODS: We describe clinical, laboratory, electrophysiological, and genetic findings of a patient who developed an immune-mediated demyelinating...

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Identifiers

PMID: 27669550
DOI: 10.1002/mus.25414

Genes

LYST

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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