Pontocerebellar hypoplasia--how many types?
An original article describes a sibship with early fatal pontocerebellar hypoplasia of a yet unclassified type, with the accompanying features of polyhydramnios and neonatal myoclonus. Autopsy in one patient excluded spinal anterior horn involvement, which argues against pontocerebellar hypoplasia type I (PCH-1). The present PCH classification and literature are briefly reviewed. Four previous publications bear similarity to the present report. Definite classification as a genetically separate entity, however, remains elusive pending localization and identification of the gene(s) involved.
Barth
P G
PG
Department of Pediatric Neurology, University of Amsterdam, Amsterdam, The Netherlands.
D001927:Brain Diseases / Q000145:classification* / Q000175:diagnosis* / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D003937:Diagnosis, Differential; D018450:Disease Progression; D006801:Humans; D008279:Magnetic Resonance Imaging; D011149:Pons / Q000002:abnormalities* / Q000473:pathology