中华外科杂志
2025年 · 第63卷第07期
中华外科杂志
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The child, 2 years old, was admitted to our hospital on May 8, 2023 mainly due to "repeated lung infection with 2 years of growth and development lag". The mother of the child was delivered by cesarean section on May 3, 2021 due to fetal heart deceleration, with a gestational age of 41 weeks. The birth weight of the child was 3 kg, the body length was 51 cm, and the head circumference was 35 cm. The neonatal score was 10 points at each time point. After birth, the child was treated in a local hospital due to "neonatal pneumonia". During hospitalization, the blood glucose level was normal, the muscle strength of the limbs was reduced, and the left and right ears of hearing screening failed to meet the standard. Fundus fluorescence angiography with wide area digital imaging system (RetCam Ⅲ) showed no obvious abnormalities. Auditory brainstem evoked potential test at a local hospital 1 month after birth showed moderate injury, and electromyography showed lower than normal muscle strength of bilateral triceps brachii, hamstring and adductor muscles. Reexamination of the auditory brainstem evoked potential test at 6 months after birth revealed moderate damage. MRI of the brain at 1 year old showed widening of the extracerebral space; Electroencephalogram revealed increased diffuse slow waves (awake phase). Cardiac ultrasonography revealed a secondary foraminal atrial septal defect, approximately 10 mm in diameter, with left-to-right shunt. Karyotype analysis was performed in August 2022 due to special facial appearance, suggesting 46, XX; Nothing abnormal. Whole exon gene detection suggestsASXL2(NM_018263.6, c.2353_2354dupGT, p.G787Vfs*13) variant (Figure 1), whose parents did not carry this variant, was considered as a new mutation.
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