TY - JOUR
T1 - Oculodentodigital dysplasia: A hypomyelinating leukodystrophy with a characteristic MRI pattern of brain stem involvement
AU - Harting, I.
AU - Karch, S.
AU - Moog, U.
AU - Seitz, A.
AU - Pouwels, P. J. W.
AU - Wolf, N. I.
N1 - Publisher Copyright: © 2019 American Society of Neuroradiology. All rights reserved. Copyright: Copyright 2019 Elsevier B.V., All rights reserved.
PY - 2019/1/1
Y1 - 2019/1/1
N2 - SUMMARY: Oculodentodigital dysplasia, a rare genetic disorder caused by mutations in the gene encoding gap junction protein 1, classically presents with typical facial features, dental and ocular anomalies, and syndactyly. Oligosymptomatic patients are common and difficult to recognize, in particular if syndactyly is absent. Neurologic manifestation occurs in approximately 30% of patients, and leukodystrophy or T2 hypointensity of gray matter structures or both have been noted in individual patients. To investigateMRimaging changes in oculodentodigital dysplasia, we retrospectively and systematically reviewed 12 MRIs from 6 genetically confirmed patients. Diffuse supratentorial hypomyelination, T2-hypointense Rolandic and primary visual cortex, and symmetric involvement of middle cerebellar peduncle, pyramidal tract, and medial lemniscus was present in all, T2-hypointense pallidum and dentate nucleus in 2 patients each. This consistent, characteristic pattern of diffuse supratentorial hypomyelination and brain stem involvement differs from other hypomyelinating and nonhypomyelinating leukodystrophies with brain stem involvement, and its recognition should trigger genetic testing for oculodentodigital dysplasia.
AB - SUMMARY: Oculodentodigital dysplasia, a rare genetic disorder caused by mutations in the gene encoding gap junction protein 1, classically presents with typical facial features, dental and ocular anomalies, and syndactyly. Oligosymptomatic patients are common and difficult to recognize, in particular if syndactyly is absent. Neurologic manifestation occurs in approximately 30% of patients, and leukodystrophy or T2 hypointensity of gray matter structures or both have been noted in individual patients. To investigateMRimaging changes in oculodentodigital dysplasia, we retrospectively and systematically reviewed 12 MRIs from 6 genetically confirmed patients. Diffuse supratentorial hypomyelination, T2-hypointense Rolandic and primary visual cortex, and symmetric involvement of middle cerebellar peduncle, pyramidal tract, and medial lemniscus was present in all, T2-hypointense pallidum and dentate nucleus in 2 patients each. This consistent, characteristic pattern of diffuse supratentorial hypomyelination and brain stem involvement differs from other hypomyelinating and nonhypomyelinating leukodystrophies with brain stem involvement, and its recognition should trigger genetic testing for oculodentodigital dysplasia.
UR - http://www.scopus.com/inward/record.url?scp=85066163666&partnerID=8YFLogxK
U2 - https://doi.org/10.3174/ajnr.A6051
DO - https://doi.org/10.3174/ajnr.A6051
M3 - Article
C2 - 31048294
SN - 0195-6108
VL - 40
SP - 903
EP - 907
JO - American journal of neuroradiology
JF - American journal of neuroradiology
IS - 5
ER -