title: Motor neuronopathy in Chediak-Higashi syndrome.
abstract: Chediak-Higashi syndrome is a rare autosomal recessive disease characterized by partial oculocutaneous albinism, recurrent pyogenic infections and the presence of giant granules in many cells such as leucocytes (hallmark of the disease). Neurological symptoms are rare. We describe two sisters who presented the same phenotype of slowly progressive motor neuronopathy (with Babinski sign in one patient); biopsy of the sural nerve showed an abnormal endoneurial accumulation of lipofuscin granules. We discuss these two observations and compare them with the few case reports of neuropathy in Chediak-Higashi syndrome.
authors.affiliation: Department of Neurology, CHU Poitiers, University of Poitiers, 2 rue de la Milétrie, 86021 Poitiers, France.
authors.forename: S
authors.initials: S
authors.lastname: Mathis
authors.affiliation: Department of Neurology, CHU Rangueil, 1 avenue J. Poulhès, 31059 Toulouse, France.
authors.forename: P
authors.initials: P
authors.lastname: Cintas
authors.affiliation: Unité de Recherches sur le développement normal et pathologique du système immunitaire INSERM U429, Hôpital Necker-Enfants Malades, 75000 Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: de Saint-Basile
authors.affiliation: Department of Neurology and 'Centre de référence neuropathies périphériques rares', CHU Dupuytrens, 87000 Limoges, France.
authors.forename: L
authors.initials: L
authors.lastname: Magy
authors.affiliation: Department of Neurology and 'Centre de référence neuropathies périphériques rares', CHU Dupuytrens, 87000 Limoges, France.
authors.forename: B
authors.initials: B
authors.lastname: Funalot
authors.affiliation: Department of Neurology and 'Centre de référence neuropathies périphériques rares', CHU Dupuytrens, 87000 Limoges, France. Electronic address: jean-michel.vallat@unilim.fr.
authors.forename: J-M
authors.initials: JM
authors.lastname: Vallat
mesh_terms: D000328:Adult; D002609:Chediak-Higashi Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D009069:Movement Disorders / Q000209:etiology*; D010543:Peroneal Nerve / Q000473:pathology / Q000648:ultrastructure; D020427:Peroneal Neuropathies / Q000209:etiology* / Q000473:pathology; D035781:Siblings
keywords: Chediak–Higashi syndrome; LYST; Lipofuscin; Motor neuron disorder; Motor neuropathy; Schwann cell