%0 Journal Article
%A Synofzik, Matthis
%A Bernard, Geneviève
%A Lindig, Tobias
%A Gburek-Augustat, Janina
%T Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth.
%J Neurology
%V 81
%N 19
%@ 0028-3878
%C [S.l.]
%I Ovid
%M DZNE-2020-03570
%P e145-e145
%D 2013
%X 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)).
%K Adolescent
%K Anodontia: complications
%K Anodontia: genetics
%K Anodontia: pathology
%K Female
%K Hereditary Central Nervous System Demyelinating Diseases: complications
%K Hereditary Central Nervous System Demyelinating Diseases: genetics
%K Hereditary Central Nervous System Demyelinating Diseases: pathology
%K Humans
%K Magnetic Resonance Imaging
%K Mouth: pathology
%K RNA Polymerase III: genetics
%K POLR3B protein, human (NLM Chemicals)
%K RNA Polymerase III (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:24190003
%2 pmc:PMC3812106
%R 10.1212/01.wnl.0000435300.64776.7e
%U https://pub.dzne.de/record/137248