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

We describe two sisters affected by pontocerebellar hypoplasia type 2 assoc iated with microcephaly, hypertonia, severe choreiform movements, an almost complete lack of psychomotor development, and generalized tonic-clonic sei zures. Clinical and neuroradiological findings ruled out other conditions a ssociated with pontocerebellar hypoplasia, i.e, pontocerebellar hypoplasia type 1, carbohydrate-deficient glycoprotein syndrome, and olivopontocerebel lar hypoplasia/atrophy. (C) 2000 Published by Elsevier Science B.V. All rig hts reserved.