Pontocerebellar hypoplasia with microcephaly and dyskinesia: report of two cases.
We present two clinically diagnosed cases of pontocerebellar hypoplasia with microcephaly and dyskinesia (pontocerebellar hypoplasia type 2) from two different Portuguese families. Both children presented neurological involvement from birth, progressive microcephaly, exuberant chorea and dystonia, myoclonic jerks, pontocerebellar hypoplasia, and progressive cerebral cortical atrophy. One child had consanguineous parents.
Barbot
C
C
Serviço de Neuropediatria, Hospital Maria Pia, Porto, Portugal.
Carneiro
G
G
Melo
J
J
D001284:Atrophy; D002530:Cerebellopontine Angle / Q000002:abnormalities* / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002648:Child; D002819:Chorea / Q000150:complications; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000150:complications*; D009069:Movement Disorders / Q000150:complications*