Charge syndrome in a Nigerian infant: a rare genetic disorder

Abstract

Background: Charge syndrome is a rare genetic disorder that arises during early fetal development and affects multiple organ systems. Diagnosis is largely clinical. Mutation at the CHD7 gene located on Chromosome 8 has been identified in a great number of patients reviewed in different parts of the world. Survival depends on the intensity of the medical management as well as an early aggressive approach to the feeding adaptation in these children. Case report: We report a case of a 42 day old baby with clinical features in keeping with Charge syndrome. He was a product of a full term uneventful pregnancy period delivered to non consanguineous apparently healthy parents. Two older siblings were normal. He developed respiratory distress shortly after birth. Multiple abnormalities were identified at birth which included genital, car, eye and cardiovascular as well as skeletal abnormalities. Genetic testing was not carried out due to cost. Child was managed by a multidisciplinary team. Main problems were those of sepsis and feeding adaptation. He later succumbed to death after a month on admission. Conclusion: This is the first case of Charge syndrome reported in Nigeria. It is a rare, multi systemic condition with grave health implications and early diagnosis and appropriate management could reduce morbidity and prevent mortality. This report is to increase awareness of this rare condition and to promote better identification and intervention of similar presentation in future.