CHARGE syndrome

Abstract

The article provides literature data and description of the clinical case of CHARGE syndrome with an autosomal – dominant type of inheritance in a child of 3 years and 7 months. The name of the syndrome is formed by the first letters of the characteristic congenital malformations: “C” (coloboma) – optic disc coloboma, “H” (heart defects) – cardiovascular abnormalities, “A” (atresia of choanae) – atresia or stenosis of choan, “R” (retardation of growth and development) – growth deficit, developmental delay, “G” (genital anomalies) – genital anomalies, “E” (ear abnormalities and sensorineural hearing loss) – hearing organ abnormalities. A feature of the clinical case is the early diagnosis of CHARGE syndrome, manifested by bilateral optic disc coloboma; unilateral paresis of the facial nerve; congenital heart disease (open aortic duct); retardation of growth, psychomotor and psycho-speech development; cryptorchidism; bilateral anomaly of the outer ear (short, wide, absence of the lobe and external curl), sensorineural hearing loss; bilateral renal hypopalasia, chronic kidney disease.

Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description

“…Despite reaching adulthood, the individual with CHARGE syndrome requires regular appointments with his primary care doctor and specialists to ensure ongoing monitoring, symptom management, and the prevention of potential complications. Adults with CHARGE syndrome face an elevated risk of mortality due to factors such as infection, aspiration, and obstructive sleep apnea [ 8 ]. Furthermore, hypogonadotropic hypogonadism resulting from GnRH deficiency is a prevalent endocrine phenotype observed in 60–80% of individuals with CHARGE syndrome [ 22 ]; therefore, it is imperative for patients to consult with a specialist reproductive endocrinologist for fertility assessment and treatment.…”

“…The geneticist evaluated the individual with CHARGE syndrome after giving the correct diagnosis at 22 years old. The prognosis is favorable, as individuals are more vulnerable and at higher risk during the early years of life [ 8 ]. This case underscores the impact of a lack of clinical assessment in the younger years, which has contributed to the delayed the correct diagnosis.…”