Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings.

Abstract	We describe two sisters affected by pontocerebellar hypoplasia type 2 associated with microcephaly, hypertonia, severe choreiform movements, an almost complete lack of psychomotor development, and generalized tonic-clonic seizures. Clinical and neuroradiological findings ruled out other conditions associated with pontocerebellar hypoplasia, i.e. pontocerebellar hypoplasia type 1, carbohydrate-deficient glycoprotein syndrome, and olivopontocerebellar hypoplasia/atrophy.
Authors	G Coppola, I Muras, A Pascotto
Journal	Brain & development (Brain Dev) Vol. 22 Issue 3 Pg. 188-92 (May 2000) ISSN: 0387-7604 [Print] Netherlands
PMID	10814903 (Publication Type: Case Reports, Journal Article)
Topics	Agenesis of Corpus Callosum Cerebellum (abnormalities, pathology, physiopathology) Cerebral Cortex (abnormalities, pathology, physiopathology) Child, Preschool Corpus Callosum (pathology, physiopathology) Disease Progression Family Health Fatal Outcome Female Humans Infant Magnetic Resonance Imaging Neurodegenerative Diseases (pathology, physiopathology) Pedigree Pons (abnormalities, pathology, physiopathology)

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