Anesthetic management of a child with Cornelia de Lange Syndrome undergoing open heart surgery:A case report

BACKGROUND Cornelia de Lange syndrome(CdLS)is a congenital multisystemic genetic disorder.The expected lifespan of children with this disorder has been prolonged in parallel with the advances in medicine in recent years.However,they still more frequently undergo cardiac surgery.There are some challenges for clinicians when faced with CdLS patients.We present the perioperative management of a child with CdLS undergoing open-heart surgery.CASE SUMMARY Severe pulmonic and subpulmonic valvular stenosis,enlargement of the right side of the heart,mild tricuspid regurgitation,atrial septal defect,and patent ductus arteriosus were diagnosed in a 14-month-old boy with manifested cyanosis,developmental delay,and malnutrition.Attempted balloon valvuloplasty was unsuccessful due to a severe stenotic pulmonary valve,therefore it was decided to perform an open surgical repair.Following a successful and uncomplicated intraoperative course,the patient was extubated on postoperative day 5,and adrenalin and dopamine infusions were gradually decreased and stopped on postoperative days 6 and 10,respectively.Moderate laryngomalacia and suboptimal vocal cord movements were diagnosed,and tracheotomy and percutaneous endoscopic gastrostomy were performed under general anesthesia in the same session at postoperative day 32.The patient was discharged on postoperative day 85 after a challenging postoperative period with additional airway and nutritional problems.CONCLUSION This is the first report of the perioperative anesthetic and clinical management of a CdLS patient undergoing open-heart surgery.

A novel de novo mutation of the Nipped-B-like gene in an isolated Chinese patient with Cornelia de Lange syndrome

Cornelia de Lange syndrome （CdLS; OMIM： 122470） is characterized by distinctive facial features, growthretardation, hirsutism, and upper limb reduction defects. Craniofacial features manifest as synophrys, arched eyebrows, long thick eyelashes, a small upturned nose, small widely-spaced teeth, and microcephaly. The intelligence quotient （IQ） is usually below the normal level. More phenotypes are frequently found, such as cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.

Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome:A case report

BACKGROUND This case report describes a novel genotypic and phenotypic presentation of Alazami-Yuan syndrome,and contributes to the current knowledge on the condition.CASE SUMMARY We report an 11-year-old boy with Alazami-Yuan syndrome.The main clinical manifestations were rapid development of puberty,typical facial features of Cornelia de Lange syndrome,and normal intelligence.Peripheral blood DNA samples obtained from the patient and his parents were sequenced using highthroughput whole-exosome sequencing,which was verified by Sanger sequencing.The results showed that there was a compound heterozygous mutation of c.1052delT and c.76A>T in the TATA-Box Binding Protein Associated Factor 6(TAF6)gene.The mutation of c.1052delT was from his mother and the mutation of c.76A>T was from his father.CONCLUSION This study extends the mutation spectrum of the TAF6 gene,and provides a molecular basis for the etiological diagnosis of Alazami-Yuan syndrome and genetic consultation for the family.