A syndrome of autosomal recessive pontocerebellar hypoplasia with white matter abnormalities and protracted course in two brothers

被引：9

作者：

Malandrini, A ^{[1
]}

Palmeri, S ^{[1
]}

Villanova, M ^{[1
]}

Parrotta, E ^{[1
]}

Sicurelli, F ^{[1
]}

Amato, D ^{[1
]}

DeFalco, D ^{[1
]}

Guazzi, GC ^{[1
]}

机构：

[1] UNIV SIENA,INST RADIOL,I-53100 SIENA,ITALY

来源：

BRAIN & DEVELOPMENT | 1997年 / 19卷 / 03期

关键词：

pontocerebellar hypoplasia; autosomal recessive transmission; white matter abnormalities;

D O I：

10.1016/S0387-7604(96)00563-3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe two brothers with an autosomal recessive syndrome characterized by neonatal onset, severe impairment of cognitive and motor functions, abnormal ocular movements and slight dystonic postures. Brain MR and CT scan showed a reduction in size of the cerebellum and to a lesser extent pens, accompanied by cerebral and cerebellar white matter abnormalities. These data suggest that they have a particular phenotype of pontocerebellar hypoplasia. Extensive laboratory investigation excluded known metabolic causes of pontocerebellar hypoplasia. We discuss the nosological status of pontocerebellar hypoplasia in relation to other early-onset pontocerebellar disorders. (C) 1997 Elsevier Science B.V.

引用

页码：209 / 211

页数：3

共 6 条

[1] INHERITED SYNDROME OF MICROCEPHALY, DYSKINESIA AND PONTOCEREBELLAR HYPOPLASIA - A SYSTEMIC ATROPHY WITH EARLY ONSET [J].