title: Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.
abstract: We identified four unrelated patients (three female, one male) aged 20 to 30 years with hypomyelination, pituitary hypogonadotropic hypogonadism, and hypodontia. Electron microscopy and myelin protein immunohistochemistry of sural nerves showed granular debris-lined clefts, expanded abaxonal space, outpocketing with vacuolar disruption, and loss of normal myelin periodicity. Reduced galactocerebroside, sphingomyelin, and GM1-N-acetylglucosamine and increased esterified cholesterol were found. This is a clinically homogeneous progressive hypomyelinating disorder. The term 4H syndrome is suggested.
authors.affiliation: Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1260, USA.
authors.forename: M
authors.initials: M
authors.lastname: Timmons
authors.forename: M
authors.initials: M
authors.lastname: Tsokos
authors.forename: M Abu
authors.initials: MA
authors.lastname: Asab
authors.forename: S B
authors.initials: SB
authors.lastname: Seminara
authors.forename: G C
authors.initials: GC
authors.lastname: Zirzow
authors.forename: C R
authors.initials: CR
authors.lastname: Kaneski
authors.forename: J D
authors.initials: JD
authors.lastname: Heiss
authors.forename: M S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: M T
authors.initials: MT
authors.lastname: Vanier
authors.forename: R
authors.initials: R
authors.lastname: Schiffmann
authors.forename: K
authors.initials: K
authors.lastname: Wong
mesh_terms: D000328:Adult; D000848:Anodontia / Q000150:complications / Q000473:pathology*; D003711:Demyelinating Diseases / Q000150:complications / Q000473:pathology*; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000473:pathology*; D008297:Male; D010902:Pituitary Gland / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology