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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)).

SUBMITTER: Synofzik M

PROVIDER: S-EPMC3812106 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature

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Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth.

Synofzik Matthis M Bernard Geneviève G Lindig Tobias T Gburek-Augustat Janina J

Neurology 20131101 19

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 ...[more]

PMID: 24190003

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Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.

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