Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1

被引:21
作者
Muntoni, F
Goodwin, F
Sewry, C
Cox, P
Cowan, F
Airaksinen, E
Patel, S
Ignatius, J
Dubowitz, V
机构
[1] Hammersmith Hosp, Imperial Coll, Sch Med, Dept Paediat & Neonatal Med, London W12 0NN, England
[2] Hammersmith Hosp, Dept Histopathol, London W12 0NN, England
[3] Kuopio Univ Hosp, Paediat Clin, SF-70210 Kuopio, Finland
[4] Jorvi Hosp, SF-02740 Espoo, Finland
关键词
ponto-cerebellar hypoplasia type 1; spinal muscular atrophy; arthrogryposis;
D O I
10.1055/s-2007-973498
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We present the clinical and histopathological features and the diagnostic difficulties encountered in five children affected by a motor neuron disorder other than spinal muscular atrophy. Investigations performed suggested the diagnosis of pontocerebellar hypoplasia type 1 (PCH-1). Severe respiratory difficulty was present at birth in two of these children; hypotonia, arthrogryposis, microcephaly and nystagmus were present in all; Early and progressive bulbar involvement with swallowing difficulties and strider was also a common feature in these infants. Severe cognitive delay was invariably present. Brain magnetic resonance imaging showed ponto-cerebellar hypoplasia in four children while striking atrophy of the cerebellar vermis and cerebellar hemispheres were present in the fifth child. Electrophysiological and pathological investigations of proximal muscles performed at presentation in all these children were not conclusive, while the post-mortem studies, or the study of distal muscles during life, showed a clear neurogenic picture, Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that ponto-cerebellar hypoplasia type 1 is a different entity from typical proximal spinal muscular atrophy.
引用
收藏
页码:243 / 248
页数:6
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