title: Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.
abstract: Three patients with Chediak-Higashi syndrome underwent allogeneic bone marrow transplantation between the ages of 2 years 9 months and 7 years. The outcome was uneventful, with sustained mixed chimerism. No subsequent recurrent infections or hemophagocytic syndrome were observed. At the age of 22 to 24 years, these 3 patients developed a neurologic deficit combining difficulty walking, loss of balance, and tremor. Neurologic evaluation demonstrated cerebellar ataxia and signs of peripheral neuropathy. Moderate axon loss and rarefaction of large myelinated fibers were observed on semithin sections of peripheral nerve. Cerebellar atrophy was detected by cerebral magnetic resonance imaging in 2 patients. We also reviewed the very long-term outcome of the other 11 patients with Chediak-Higashi syndrome who had received bone marrow transplants at our center since 1981. All displayed neurologic deficits or low cognitive abilities.
authors.affiliation: Service de Neurologie, Département de Pédiatrie et Laboratoire de Neuropathologie, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Paris, France. marc.tardieu@bct.ap-hop-paris.fr
authors.forename: Marc
authors.initials: M
authors.lastname: Tardieu
authors.forename: Catherine
authors.initials: C
authors.lastname: Lacroix
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Neven
authors.forename: Pierre
authors.initials: P
authors.lastname: Bordigoni
authors.forename: Geneviève
authors.initials: G
authors.lastname: de Saint Basile
authors.forename: Stéphane
authors.initials: S
authors.lastname: Blanche
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
mesh_terms: D000328:Adult; D016026:Bone Marrow Transplantation; D002524:Cerebellar Ataxia / Q000209:etiology / Q000473:pathology; D002609:Chediak-Higashi Syndrome / Q000150:complications / Q000473:pathology* / Q000628:therapy*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009133:Muscular Atrophy / Q000209:etiology / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000209:etiology / Q000473:pathology*; D013997:Time Factors