Mercuri E, Goodwin F, Sewry C, Dubowitz V, Muntoni F
Department of Paediatrics and Neonatal Medicine and Dubowitz Neuromuscular Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK.
Eur J Paediatr Neurol. 2000;4(2):69-72. doi: 10.1053/ejpn.1999.0265.
We present the clinical and histopathological features of a child affected by diaphragmatic spinal muscular atrophy. The child was born with mild distal arthrogryposis, mild hypotonia and developed marked diaphragmatic and bulbar muscle weakness in the first week of life. Electrophysiological and pathological investigations performed at presentation were not conclusive, while the investigations performed at 3 months showed a clear neurogenic picture. Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that this syndrome represents a different entity from typical proximal spinal muscular atrophy.
我们报告了一名患有膈神经脊髓性肌萎缩症患儿的临床和组织病理学特征。该患儿出生时伴有轻度远端关节挛缩和轻度肌张力减退，并在出生后第一周出现明显的膈肌和延髓肌无力。就诊时进行的电生理和病理检查结果不明确，而3个月时进行的检查显示出明确的神经源性表现。基因研究排除了SMN基因或位于5号染色体上的其他基因的参与，证实该综合征代表了一种与典型近端脊髓性肌萎缩不同的疾病实体。
