title: Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth.
abstract: An 18-year-old German woman presented with progressive cerebellar ataxia since early childhood, delayed cognitive development, and hypogonadotropic hypogonadism. MRI demonstrated diffuse cerebral hypomyelination, cerebellar atrophy, and thin corpus callosum; X-ray revealed persistent milk teeth and hypoplastic crowns and roots (figure), indicative of 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism). POLR3B sequencing(1) revealed 2 compound heterozygous mutations (C527R [C.1579T>C] and the common ancestral V523E [C.1568T>A](2)).
authors.affiliation: From the Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research (M.S.), German Research Center for Neurodegenerative Diseases (DZNE) (M.S.), and Department of Neuroradiology (T.L.), University of Tübingen, Germany; Departments of Pediatrics, Neurology, and Neurosurgery (G.B.), Montreal Children's Hospital, McGill University Heath Center, Canada; and the Department of Pediatric and Developmental Neurology (J.G.-A.), University Children's Hospital, Tübingen, Germany.
authors.forename: Matthis
authors.initials: M
authors.lastname: Synofzik
authors.forename: Geneviève
authors.initials: G
authors.lastname: Bernard
authors.forename: Tobias
authors.initials: T
authors.lastname: Lindig
authors.forename: Janina
authors.initials: J
authors.lastname: Gburek-Augustat
mesh_terms: D000293:Adolescent; D000848:Anodontia / Q000150:complications / Q000235:genetics / Q000473:pathology; D005260:Female; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D009055:Mouth / Q000473:pathology*; D012320:RNA Polymerase III / Q000235:genetics*
chemical_list: C468558:POLR3B protein, human; D012320:RNA Polymerase III