Extreme Microcephaly, Diffuse Agyria, Agenesis of Corpus Callosum, Cerebellar Hypoplasia with Dandy-Walker Malformation: Is This A Severe Form (Barth Syndrome) or A New Variant of Microlissencephaly
نویسنده
چکیده
A five month girl with extreme microcephaly and complex brain malformation is reported. Magnetic resonance imaging (MRI) revealed bilateral thickened smooth cortex with diffuse agyria-pachygyria spectrum, agenesis of corpus callosum, bilateral hypoplastic cerebellar hemispheres and ventriculomegaly with Dandy-Walker malformation. By adding our case in the list of similar case reports by László Sztriha [1] and Mitsuhiro Kato [2], we suggest a possible classification of a new variant of microlissencephaly.
منابع مشابه
IJSRD - International Journal for Scientific Research & Development| Vol. 2, Issue 05, 2014 | ISSN (online): 2321-0613
Dandy-Walker malformation is characterised by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. Approximately 70-90% of patients have hydrocephalus. Lissencephaly is characterised by absence (agyria) or incomplete development (pachygyria) of the gyri of the cerebral cortex, causing the brain's surface to appear un...
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تاریخ انتشار 2011