title: An Indian boy with a novel leukodystrophy: 4H syndrome.
abstract: 4H syndrome is a rare and distinct leukodystrophy characterized by hypomyelination, hypogonadotropic hypogonadism, and hypodontia. Detecting signs of pubertal growth failure and abnormal dentition offer the clues to the diagnosis. We present an Indian boy with this novel syndrome with previously unreported feature of bilateral undescended testes. We also provide a brief overview of all published cases.
authors: 1Pediatric Neurology Division, Department of Pediatrics, Post Graduate Institute of Medical Education & Research, Chandigarh, India.
authors: Prashant
authors: P
authors: Jauhari
authors: Jitendra Kumar
authors: JK
authors: Sahu
authors: Pratibha
authors: P
authors: Singhi
authors: Devi
authors: D
authors: Dayal
authors: N
authors: N
authors: Khandelwal
mesh_terms: D000848:Anodontia / Q000175:diagnosis* / Q000503:physiopathology*; D001259:Ataxia / Q000175:diagnosis* / Q000503:physiopathology*; D002648:Child; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis* / Q000503:physiopathology*; D007194:India; D056784:Leukoencephalopathies / Q000175:diagnosis* / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male
keywords: cerebellar ataxia; hypodontia; hypogonadotropic hypogonadism; hypomyelination; leukodystrophy; undescended testes