Oral 2, Silver hair in a 3‐year‐old child

A 32‐month‐old girl of Pakistani origin presented to the paediatricians with a short history of abdominal pain, decreased appetite and lethargy and a history of developmental delay. She was referred to us when it was noted that her hair and eyebrows were silver in colour. While in hospital, she became progressively more unwell, developed neck stiffness and refused to walk. A diagnosis of acute meningitis was made and a prelumbar puncture computed tomographic scan showed hydrocephalus with enlarged third and lateral ventricles. She underwent a third ventriculostomy and insertion of a reservoir. Magnetic resonance imaging showed multiple focal ill‐defined enhancement with larger enhancing masses in the cerebellum. These appearances were initially thought suggestive of widely disseminated lymphoma or leukaemia. Surgical biopsy of these lesions was performed and histology showed some evidence of histiocytic tumour with a degree of erythrophagocytosis and lymphophagocytosis. In view of the histology and the phenotypic features, Griscelli syndrome was considered. Blood and hair from the patient were analysed and she was confirmed to be homozygous for a mutation in the RAB27A gene, which has been described in Griscelli syndrome. She has subsequently undergone bone marrow transplantation. Griscelli syndrome is a rare autosomal recessive disorder resulting in partial albinism and a combined immunodeficiency. 1 Our case is unusual in that the presentation was neurological with no evidence of cytopenia. Reference 1 Mancini AJ, Chan LS, Paller AS. Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. J Am Acad Dermatol 1998; 38 :295–300.