PONTOCEREBELLAR HYPOPLASIA WITH MICROCEPHALY AND DYSKINESIA - REPORT OF 2 CASES

Authors
BARBOT C CARNEIRO G MELO J
Citation
C. Barbot et al., PONTOCEREBELLAR HYPOPLASIA WITH MICROCEPHALY AND DYSKINESIA - REPORT OF 2 CASES, Developmental Medicine and Child Neurology, 39(8), 1997, pp. 554-557
Citations number
10
Categorie Soggetti
Pediatrics,"Clinical Neurology
Journal title
Developmental Medicine and Child Neurology → ACNP
ISSN journal
00121622
Volume
39
Issue
8
Year of publication
1997
Pages
554 - 557
Database
ISI
SICI code
0012-1622(1997)39:8<554:PHWMAD>2.0.ZU;2-6
Abstract
We present two clinically diagnosed cases of pontocerebellar hypoplasi a with microcephaly and dyskinesia. (pontocerebellar hypoplasia. type 2) from two different Portuguese families, Both children presented neu rological involvement from birth, progressive microcephaly, exuberant chorea and dystonia, myoclonic jerks, pontocerebellar hypoplasia, and progressive cerebral cortical atrophy. One child had consanguineous pa rents.