Griscelli syndrome

Abstract

Griscelli syndrome type 1 is a rare autosomal recessive disorder characterized by silver hair and neurological symptoms. This article presents a 23-month-old boy with silver-gray hair, eyebrows, eyelashes and neurological symptoms who came to our hospital with complaints of not head control, not sitting, not resisting and mental retardation. He is the fourth child of a second-degree relative. The first 13-year-old girl in the family suffers from similar phenotypic features and neurological symptoms (does not sit, does not walk, does not speak, mental development is not age-appropriate). Griscelli syndrome type 1 was considered according to anamnesis, her sister's disease, phenotypic features, and clinical features. Griscelli syndrome type 1 should be considered in children with neurological deficits and specific phenotypic features from birth.