Multiple mitochondrial dysfunction syndrome type 3 with dyspnea and hypoxemia as early manifestation: a case report
10.3760/cma.j.cn113903-20230919-00214
- VernacularTitle:以呼吸困难和低氧血症为早期表现的多发型线粒体功能紊乱综合征3型1例
- Author:
Meiying QUAN
1
;
Juan DING
;
Yu ZHANG
;
Zhenghong LI
Author Information
1. 中国医学科学院北京协和医学院北京协和医院儿科，北京 100730
- Keywords:
Dyspnea;
Hypoxia;
Mitochondrial diseases;
Leukoencephalopathies;
IBA57 gene;
Infant, newborn
- From:
Chinese Journal of Perinatal Medicine
2023;26(10):869-871
- CountryChina
- Language:Chinese
-
Abstract:
This article reported a case of multiple mitochondrial dysfunction syndrome type 3 with the early manifestation of dyspnea and hypoxemia. The patient was a male newborn who had dyspnea, which was manifested as nasal flaring, three concave sign, and hypoxemia after birth. These manifestations were improved after oxygen support through nasal cannula, but continuous low-flow oxygen therapy was needed. Chest X-ray indicated a bell-shaped thorax with pulmonary hypertension. Whole-exome sequencing identified compound heterozygous variants of c.341+1G>A and c.785G>A (p.G262D) in IBA57 gene of the patient, which were pathogenic and inherited from his mother and father, respectively. Symptomatic epilepsy, nystagmus, and central respiratory failure appeared at the age of 3 months. Cranial magnetic resonance image findings were consistent with the signs of mitochondrial leukoencephalopathy. The patient still had recurrent convulsions despite the treatment with levocarnitine, vitamin B 2, vitamin B 1, vitamin E, coenzyme Q10, levetiracetam, and mechanical ventilation through a tracheal tube. The patient showed a poor response to the treatment and died after withdrawing from treatment.
