Clinical analysis of a family with autosomal recessive spastic paraplegia caused by IBA57 gene mutations / 中华神经科杂志

Objective:To investigate the clinical, imaging and gene variation characteristics of hereditary spastic paraplegia type 74 caused by mutations in IBA57 gene. Methods:A retrospective analysis was performed on 2 cases of autosomal recessive spastic paraplegia caused by mutations in IBA57 gene who visited the Department of Neurology, the Affiliated Wuxi Children′s Hospital of Nanjing Medical University in 2010 and 2021, and the patients′ clinical data were collected. Results:The 2 patients were siblings with onset age of 4 years and 7 months, 1 year and 3 months, respectively. The same compound heterozygous mutations in IBA57 gene were found in the sibling patients [c.473G>C (p.R158P) and c.697C>T (p.R233X)]. Both patients were diagnosed as spastic paraplegia type 74. They had mild to moderate gait abnormalities, optic atrophy, decreased vision, and leukodystrophy with periventricular white matter abnormality, but no obvious growth and mental retardation in developmental assessment. Conclusions:Cases of spastic paraplegia type 74 caused by compound heterozygous mutations in IBA57 gene mainly manifested as childhood onset and slowly progressive inferior spasmodic weakness. The patients did not display significant cognitive impairment, and imaging examinations showed obvious leukodystrophy.

Multiple mitochondrial dysfunction syndrome type 3 with dyspnea and hypoxemia as early manifestation: a case report / 中华围产医学杂志

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.