Joubert syndrome in a child with Gilbert syndrome

Abstract

Joubert syndrome is a heterogeneous disease from a group of ciliopathies that share a specific malformation of the midbrain and hindbrain, known as the «molar tooth sign» according to MRI of the brain. This article presents a clinical case of a rare hereditary disease – Joubert syndrome caused by mutations of C.610A>G in the OFD1 gene. The history of the disease was traced to the age of 6 years 9 months. Clinical manifestations of the disease in the patient since birth were jaundice, respiratory disorders, diffuse hypotonia, convergent strabismus, delayed physical and psychomotor development. After excluding the main groups of hereditary metabolic diseases, the patient underwent a brain MRI, where a specific anomaly of the cerebellar and brainstem structure, known as the «molar tooth sign», was revealed. Subsequently, the diagnosis was clarified by the molecular genetic method (Sanger sequencing). Key words: children, Joubert syndrome, ciliopathy, OFD1 gene