A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract.
Hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) is a rare disease, characterized by both central and peripheral hypomyelination. We describe a 21-year-old male with mildly progressive ataxia, mental retardation, pituitary hypogonadotropic hypogonadism, delayed dentition, and cataract. Brain magnetic resonance imaging showed hypomyelinated white matter, cerebellar atrophy, and a thin corpus callosum. The literature suggests that abnormal findings upon sural nerve biopsy may indicate peripheral hypomyelination, even in the absence of clinically and physiologically evident peripheral neuropathy. A sural nerve biopsy of this patient was normal, and this finding is further discussed. Taken together with previous reports, this case suggests that 4H syndrome can be regarded as a spectrum disorder, the cardinal signs of which may be central hypomyelination, ataxia, hypogonadotropic hypogonadism, and hypodontia.
Sato
Ikuko
I
Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Yumoto Akiumachi, Taihaku-ku, Sendai 982-0241, Japan. aar06800@par.odn.ne.jp
Onuma
Akira
A
Goto
Nobue
N
Sakai
Fumiaki
F
Fujiwara
Ikuma
I
Uematsu
Mitsugu
M
Osaka
Hitoshi
H
Okahashi
Satomi
S
Nonaka
Ikuya
I
Tanaka
Soichiro
S
Haginoya
Kazuhiro
K
D000848:Anodontia / Q000150:complications / Q000473:pathology*; D001259:Ataxia / Q000150:complications / Q000473:pathology*; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology; D002386:Cataract / Q000150:complications* / Q000473:pathology; D003711:Demyelinating Diseases / Q000150:complications / Q000473:pathology*; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000473:pathology*; D008607:Intellectual Disability / Q000150:complications / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology; D013577:Syndrome; D055815:Young Adult