Akademik Veri Yönetim Sistemi
KLINIK PSIKIYATRI DERGISI-TURKISH JOURNAL OF CLINICAL PSYCHIATRY, cilt.25, sa.1, ss.112-116, 2022 (ESCI)
Joubert Syndrome is a rare genetic and clinical disorder that affects many different parts of the body, especially the central nervous system, musculoskeletal system, kidneys, eyes, respiratory system, endocrine system and liver. In addition to all these affected organ systems, dysmorphic facial features can also be observed in people with Joubert Syndrome. Symptoms and clinical signs in individuals with Joubert Syndrome vary greatly in several ways, to the extent where afflicted individuals even from the same family might have completely different clinical presentations, when compared to one another. Although the clinical features of Joubert Syndrome appear in the neonatal period, the diagnosis can usually take years after the symptoms appear. A prevalence of between 1 per 80 000 and 1 per 100 000 live births has been reported by many investigators. Despite its heterogenous symptom cluster, poor outcome in cases of Joubert Syndrome presenting predominantly with hypotonia and global developmental delay has been reported. Although mental retardation has been reported as the primarily anticipated psychiatric condition in cases with Joubert Syndrome, some other clinical sources within relevant literature identify autism spectrum disorders as another possible psychiatric diagnosis observed in affected individuals. It is known that there are a limited number of cases with Joubert Syndrome, it is a rare condition and the main psychiatric finding expected in the course of the syndrome is mental retardation. With this case report, we have aimed to discuss a case of Joubert Syndrome who had presented with symptoms of major depressive disorder that mimicked mental retardation.