关键词: 脊髓性肌萎缩伴呼吸窘迫 1 型； 膈肌麻痹； 呼吸衰竭； 周围神经损害

Abstract: Objective To report the clinical manifestations and neuroelectrophysiological results of a child diagnosed as spinal muscular atrophy with respiratory distress type 1 (SMARD 1 ). Methods Clinical data of a case of SMARD 1 was analyzed. Results This case was small for gestational age. After birth, there was a weak cry, and the condition gradually progressed. On the 31st day after birth, there was a poor milk intake and a weaker cry. During hospitalization, there was respiratory failure. Under ventilation, there was still intermittent spontaneous shortness of breath and decreased blood oxygen saturation. Right diaphragmatic eventration and inflammatory consolidation were present in bedside chest radiograph after tracheal intubation. The genetic test found two compound heterozygous mutations in IGHMBP2 . Among these two mutations, nonsense mutation of c. 1813 C>T was inherited from his mother, and c. 905 _ 912 + 84 del was inherited from his father. Neuroelectrophysiology showed multiple peripheral nerve damage. Conclusion SMARD 1 is a rare autosomal recessive disorder. The mutation of IGHMBP 2 gene causes progressive damage of α motor neurons in the anterior horn of the spinal cord

Key words: spinal muscular atrophy with respiratory distress type 1 ; diaphragmatic paralysis; respiratory failure; peripheral nerve damage