Spinal muscular atrophy combined with respiratory distress type Ⅰ but no respiratory failure:a case report
10.3969/j.issn.1000-3606.2017.03.015
- VernacularTitle:脊髓性肌萎缩伴呼吸窘迫1型不伴呼吸衰竭1例报告
- Author:
Li GUO
;
Longmei SUN
;
Fang LIU
- Keywords:
spinal muscular atrophy with respiratory distress type Ⅰ;
respiratory failure;
diaphragmatic paralysis
- From:
Journal of Clinical Pediatrics
2017;35(3):213-217
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the diagnosis and differential diagnosis of spinal muscular atrophy with respiratory distress type Ⅰ (SMARD1). Method The clinical data, results of gene detection, and follow-up information of a girl diagnosed with SMARD1 were retrospectively analyzed, and related literatures were reviewed. Results The girl was born by cesarean section due to oligohydramnios. After birth, she was transferred to neonatology department for poor feeding and response, and diagnosed with neonatal sepsis, infectious shock, disseminated inravascular coagulation and atypical purulent meningitis. She was discharged after one month of treatment. However, at 2 months old, she presented contracture of ankle joint, abnormal liver function, and myocardial damage. At 6 months old, she had obvious reduced muscular tension and development retardation. At 8 months old, the SMA gene was detected and it was normal. At 9 months old, The panel gene of peripheral neuropathy was detected and found 2 heterozygosis mutations in IGHMBP2 gene, exon8 c.1061-2A>G and exon12 c.1708C>T, which came from her father and mother respectively. Locus of exon12 c.1708C>T has been reported to be associated with the disease, and the other is a shear mutation. The diagnosis of SMARD1 was confirmed by the clinical and gene detection. The girl, 2-year-old now, suffered with recurrent respiratory tract infections, but had no respiratory distress or no respiratory failure yet. Conclusion The clinical phenotype of SMARD1 is complex and diverse. This case is the first domestic case comfirmed by gene detection.
