摘要
Abstract
Rett syndrome is a neurodevelopmental disorder mainly caused by genetic mutations on the X chromosome,predominantly affecting girls with rare occurrences in boys.This paper reports a case of newly identified gene mutation-induced Rett syndrome admitted to the Department of Pediatrics of Shanghai Sixth People's Hospital.The patient,an 8-month-old male,presented with feeding difficulties and delayed development for 8 months.Born at 35 weeks'gestation due to"fetal intrauterine distress",the patient was delivered by cesarean section and subsequently admitted to our department.During hospitalization,the patient had an apnea caused by choking on breastfeeding,and the weight gain and oral milk volume of the patient was still not satisfactory after adjusting the feeding frequency and volume.Referred to the pediatric hospital for feeding difficulties,the patient was diagnosed with neonatal enteritis and had multiple transcutaneous oxygen drops during feeding.After conservative treatment,including fasting,rehydration,anti-infective therapy,and oral training,the patient's oral intake improved,and he was discharged upon the family's request.At the time of presentation,the patient had difficulty lifting his head,could not sit independently or crawl,could hold toys but not pass them between hands,responded to sounds,unconsciously said dad and mom,repeated simple syllables,made eye contact with adults,and exhibited involuntary head shaking.Physical examination revealed slightly increased limb muscle tone,normal muscle strength,present physiological reflexes,and absent pathological reflexes.Thyroid-stimulating hormone is elevated after birth,and cardiac ultrasound showed a patent foramen ovale.Whole genome sequencing revealed a missense mutation in the methyl-CpG-binding protein 2(MECP2)gene c.317G>A(p.Arg106Gln).At 9 months of age,the patient was admitted to the pediatric hospital for severe pneumonia and required mechanical ventilation via endotracheal intubation.Despite treatment,he could not be weaned off mechanical ventilation and was discharged upon parental request.关键词
Rett综合征/甲基化CpG结合蛋白2/基因突变/男童Key words
Rett syndrome/methyl-CpG-binding protein 2/genetic mutations/boy
