A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract

Ikuko Sato, Akira Onuma, Nobue Goto, Fumiaki Sakai, Ikuma Fujiwara, Mitsugu Uematsu, Hitoshi Osaka, Satomi Okahashi, Ikuya Nonaka, Soichiro Tanaka, Kazuhiro Haginoya

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11 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)179-181
Number of pages3
JournalJournal of the neurological sciences
Volume300
Issue number1-2
DOIs
Publication statusPublished - 2011 Jan 15

Keywords

  • Cataract
  • Hypodontia
  • Hypogonadotropic hypogonadism
  • Hypomyelination

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Sato, I., Onuma, A., Goto, N., Sakai, F., Fujiwara, I., Uematsu, M., Osaka, H., Okahashi, S., Nonaka, I., Tanaka, S., & Haginoya, K. (2011). A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract. Journal of the neurological sciences, 300(1-2), 179-181. https://doi.org/10.1016/j.jns.2010.09.009