Silver hair in a 3-year-old

Abstract

Conflict of interest: none declared. A 32‐month‐old girl of Pakistani origin, whose parents were first cousins, was referred to the paediatric department with a short history of abdominal pain, lethargy and a history of developmental delay. She became progressively unwell, developed neck stiffness and refused to walk. A diagnosis of acute meningitis was made, and a pre‐lumbar puncture computed tomography scan showed hydrocephalus with enlarged third and lateral ventricles, which was treated by ventriculostomy. Magnetic resonance imaging showed multiple enhancing lesions in the cerebellum. She was referred for a dermatological opinion as she was noted to have silver hair and eyebrows (Fig. 1). ... Histological examination of a cerebellar lesion showed evidence of a histiocytic tumour with a degree of erythrophagocytosis and lymphophagocytosis (Fig. 2). ... What is your diagnosis? Griscelli's syndrome. Griscelli's syndrome (GS) is a rare autosomal recessive condition resulting in partial albinism with immunodeficiency.1 There is usually absent or impaired delayed‐type hypersensitivity, hypogammaglobulinaemia and impaired natural killer‐cell function. Patients with this syndrome are predisposed to ‘accelerated phases’ with lymphohistiocytic infiltration of several organs including liver, bone marrow and brain, although the latter is rarely reported. These episodes are often associated with infections, particularly Epstein–Barr virus (EBV), as in our case, where PCR performed on the blood was positive for EBV.