title: New case of 4H syndrome and a review of the literature.
abstract: Different pathologic processes (especially demyelination, hypomyelination, and combinations of these) may underlie leukoencephalopathies. Leukoencephalopathies pose a particular diagnostic problem when they occur in children. To seek associated, non-neurologic signs is of fundamental importance in hypomyelinating leukoencephalopathies, because these can help clarify the diagnostic picture. Two new types of leukoencephalopathy have emerged, one classified as ataxia, delayed dentition, and hypomyelination, and the other as hypomyelination with hypogonadotropic hypogonadism and hypodontia. Initially described as distinct entities, they were recently brought together in the Online Mendelian Inheritance in Man database under a single code. However, the literature describes only two patients with the characteristics of both these clinical pictures. We present the extended clinical and neuroradiologic follow-up of a patient with ataxia, delayed dentition, and hypomyelination, as well as hypogonadotropic hypogonadism. This patient reinforces the idea that the two syndromes should actually be considered the same disorder, and prompted us to conduct a critical review of the literature on disorders in which hypomyelinating leukoencephalopathy is associated with cerebellar atrophy or hypogonadism.
authors.affiliation: Department of Child Neurology and Psychiatry, IRCCS C. Mondino Institute of Neurology Foundation, 27100 Pavia, Italy. simona.orcesi@mondino.it
authors.forename: Simona
authors.initials: S
authors.lastname: Orcesi
authors.forename: Davide
authors.initials: D
authors.lastname: Tonduti
authors.forename: Carla
authors.initials: C
authors.lastname: Uggetti
authors.forename: Daniela
authors.initials: D
authors.lastname: Larizza
authors.forename: Elisa
authors.initials: E
authors.lastname: Fazzi
authors.forename: Umberto
authors.initials: U
authors.lastname: Balottin
mesh_terms: D000293:Adolescent; D000848:Anodontia / Q000150:complications / Q000175:diagnosis*; D002524:Cerebellar Ataxia / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000175:diagnosis*; D056784:Leukoencephalopathies / Q000150:complications / Q000175:diagnosis*; D008297:Male; D013577:Syndrome