Gómez-López-Hernández syndrome: An adult case diagnosed after psychiatric symptoms

Gómez-López-Hernández Syndrome or cerebellotrigeminal dysplasia is a rare condition characterized by the triad of rhombencephalosynapsis, alopecia, and trigeminal anesthesia. The genetic background of this syndrome which has many phenotypic features such as brachycephaly (a lower-than-normal ratio of the skull's length to its width), midface hypoplasia, low-set and posteriorly angulated ear structure, hypertelorism (increased distance between orbits), thin lips, and motor mental development retardation, is not known clearly yet. In reports most of the cases are in childhood, it has been observed that psychiatric disorders can often accompany this syndrome, moreover, may have an early onset. Magnetic resonance imaging was performed on a 58-year-old male patient with a diagnosis of schizoaffective disorder, treatment-resistant psychiatric symptoms and epilepsy. As a result, rhombencephalosynapsis was observed on magnetic resonance imaging. Rhombencephalosynapsis can be isolated or accompany many congenital anomalies or syndromes. The most common congenital syndrome associated with rhombencephalosynapsis is Gómez-López-Hernández Syndrome. Detailed physical examination which included mild brachycephaly, regional alopecia, absence of bilateral corneal reflex, sensory loss in the trigeminal nerve area, hearing loss, downslanted palpebral fissures, head shaking, ataxia and a significant history of psychiatric disorders suggested a diagnosis of Gómez-López-Hernández Syndrome. In this article, role of rhombencephalosynapsis and related syndrome is discussed in terms of severe psychopathology.