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Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation.
- Source :
-
Brain & development [Brain Dev] 2013 Mar; Vol. 35 (3), pp. 274-9. Date of Electronic Publication: 2012 May 26. - Publication Year :
- 2013
-
Abstract
- We described the clinical course and pathological findings in a child with TUBA1A mutation. MRI revealed marked ventricular dilation with thin cortex, poorly differentiated basal ganglia, agenesis of corpus callosum, cerebellar hypoplasia with preserved vermis at 2 months of age. No gain of developmental milestones was observed until she died with respiratory failure at 23 months of age. A de novo missense mutation of c.1096G>A (G366R) was identified in TUBA1A gene. Pathological findings included a lack in lamination in the cerebral cortex, absent corpus callosum without Probst bundle, blurred demarcation among the striatum, internal capsule and globus pallidus in association with irregular running of myelinated fibers, cerebellar hypoplasia with irregular undulation in the dentate nucleus and inferior olivary nucleus, absent olfactory bulbs and tracts, and pyramidal tract hypoplasia. These findings are consistent with previous reports and will be a clue to diagnosis of TUBA1A mutation.<br /> (Copyright © 2012. Published by Elsevier B.V.)
- Subjects :
- Agenesis of Corpus Callosum genetics
Autopsy
Cerebellum abnormalities
Cerebellum pathology
Cerebral Cortex pathology
Developmental Disabilities genetics
Developmental Disabilities pathology
Fatal Outcome
Female
Humans
Infant
Lissencephaly genetics
Magnetic Resonance Imaging
Mutation genetics
Nervous System Malformations genetics
Polymerase Chain Reaction
Agenesis of Corpus Callosum pathology
Lissencephaly pathology
Nervous System Malformations pathology
Tubulin genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1872-7131
- Volume :
- 35
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Brain & development
- Publication Type :
- Academic Journal
- Accession number :
- 22633752
- Full Text :
- https://doi.org/10.1016/j.braindev.2012.05.006