Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings.
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.
Coppola
G
G
Clinic of Child Neuropsychiatry, Department of Pediatrics, Second University of Naples, Naples, Italy.
Muras
I
I
Pascotto
A
A
D061085:Agenesis of Corpus Callosum; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology* / Q000503:physiopathology; D002540:Cerebral Cortex / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology / Q000503:physiopathology; D018450:Disease Progression; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D019636:Neurodegenerative Diseases / Q000473:pathology* / Q000503:physiopathology; D010375:Pedigree; D011149:Pons / Q000002:abnormalities* / Q000473:pathology* / Q000503:physiopathology