Charge syndrome

Abstract

Background. Introduction. In this descriptive study the clinical and neurological issues related to CHARGE syndrome (C – coloboma, cranial nerves; H – heart defects; A – atresia of the choanae; R – retardation in growth, mental development, G – genital abnormalities, E – ear malformation / hearing loss) were assessed. The study presents the clinical examination of one case with typical form of pathology, along with the identification of diagnosis and treatment particularities. Aim of study. Being a relatively rarely encountered disease, it requires a separate attitude from both patients and medical staff. The aim of the study is the identification of typical existing forms of the disease, in order to determine the principles and methods of diagnosis and treatment. Case report. Materials and methods. A 19 years old boy was admitted to the Institute of Neurology and Neurosurgery, Chisinau, Republic of Moldova in February, 2020 being evaluated according to clinical methods (investigation, anthropometry) and laboratory tests. Ressults. The patient’s complaints were: hearing impairment, memory loss, pain in thoracic and lumbar spine, headache, asthenia, myalgia. Neurological examination: hyposmia; the presence of hearing loss in left ear, and hypoacusis in the right ear; unsteady Romberg’s position; diffuse hypotonia. Somatic examination: BMI = 14,7 kg/m2 (hyponutrition), regular pulse, BP = 120/90 mmHg. Patient presents major criteria: atresia of choane, cranial nerve dysfunction – I, VIII, IX, and minor criteria: rhomboencephalic dysfunction including sensorial deafness, hypothalamo-hypophyseal dysfunction (gonadotropin or growth hormone deficiency) - genital hypoplasia and growth deficiency, characteristic facial features, intellectual disability, feeding difficulties, skeletal anomalies – thoracic and lumbar scoliosis grade 2 with rib block T8-T10. Atypical signs: immunodeficiency, gastroesophageal reflux, sleepiness, vestibular abnormalities. Prior to establishing the final diagnosis, the differential diagnosis was: Rubinstein-Taybi syndrome and Oppenheim amyotonia. The CHARGE syndrome is an autosomal dominant genetic condition caused by a mutation in the CHD7 gene. The patient has 2 sisters, 24 and 21 years old, who are also diagnosed with CHARGE syndrome. They both are pregnant, and the risk of passing on the syndrome to their offsprings is very high. Early appropriate investigations of the syndrome facilitate a correct diagnosis and proper management. Given the number of affected systems in CHARGE syndrome, we believe that a multidisciplinary clinical model is beneficial in the management of these children: the general paediatrician, genetic diagnosis, otolaryngologist, ophthalmologist, cardiologist. Conclusions. The patient manifests a typical phenotype of CHARGE syndrome according to the Verloes’s criteria. The diagnosis is usually made on clinical grounds. It requires a genetic test to confirm the CDH7 mutation in order to identify the individual’s and their offsprings’ risk and to initiate an early targeted therapy.