Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement.
Adolescent
Adult
Brain Stem
/ diagnostic imaging
Child
Child, Preschool
Craniofacial Abnormalities
/ diagnostic imaging
Eye Abnormalities
/ diagnostic imaging
Female
Foot Deformities, Congenital
/ diagnostic imaging
Humans
Magnetic Resonance Imaging
/ methods
Male
Middle Aged
Retrospective Studies
Syndactyly
/ diagnostic imaging
Tooth Abnormalities
/ diagnostic imaging
Young Adult
Journal
AJNR. American journal of neuroradiology
ISSN: 1936-959X
Titre abrégé: AJNR Am J Neuroradiol
Pays: United States
ID NLM: 8003708
Informations de publication
Date de publication:
05 2019
05 2019
Historique:
received:
07
12
2018
accepted:
12
03
2019
pubmed:
3
5
2019
medline:
1
4
2020
entrez:
4
5
2019
Statut:
ppublish
Résumé
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 investigate MR imaging 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.
Identifiants
pubmed: 31048294
pii: ajnr.A6051
doi: 10.3174/ajnr.A6051
pmc: PMC7053886
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
903-907Informations de copyright
© 2019 by American Journal of Neuroradiology.
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