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- Title
Bilateral Posterior Periventricular Nodular Heterotopia with Cerebellar Hypoplasia, Communicating Hydrocephalus and Bilateral Hippocampal Sclerosis.
- Authors
Gurusamy, S.; Saravanan, S.; Premnath, U. Kuttuva; Sivanandan, R.
- Abstract
Heterotopias are foci of grey matter in abnormal locations in the brain and are secondary to arrest of neuronal migration. Bilateral periventricular nodular heterotopias (BPVNH) are a rare form of heterotopic disorders. Many varieties of BPVNH with various associations have been reported in the literature, the commonest being the classical X-linked variety usually associated with filamin A gene (FLNA) mutations. The relationship of other types of BPVNH to this gene is variable. We report a rare variety of this entity - BPVNH with cerebellar hypoplasia, communicating hydrocephalus and bilateral hippocampal sclerosis. An exostosis arising from the left petrous temporal bone was an added finding in our patient.
- Subjects
ECTOPIC tissue; BRAIN diseases; CEREBELLAR ataxia; GENETIC mutation; BIOLOGICAL variation; CHROMOSOME abnormalities; MUTAGENESIS; NONSENSE suppression (Genetics); SCLEROTHERAPY
- Publication
Neuroradiology Journal, 2009, Vol 22, Issue 1, p11
- ISSN
1971-4009
- Publication type
Article
- DOI
10.1177/197140090902200102