A Child with Silvery Hair and Fatal Immune Dysfunction: Griscelli Syndrome Type 2: A Case Report
Year: 2025
Type: article
Study design: Case Report
Abstract: Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disorder characterised by hypopigmented silvery-grey hair, immunodeficiency and pre-disposition to haemophagocytic lymphohistiocytosis (HLH), a life-threatening hyperinflammatory condition. We report a genetically confirmed case of GS2 in a 3-month-old male born to consanguineous parents, presenting with silvery hair, recurrent fever and hepatosplenomegaly. Hair shaft microscopy revealed large, uneven melanin clumps - a hallmark feature of GS. Laboratory evaluation showed neutropenia, elevated ferritin and hypertriglyceridaemia, meeting HLH criteria. Genetic testing confirmed a homozygous RAB27A mutation. A significant family history of a sibling with similar features and early death emphasised the importance of pedigree analysis. Early clinical suspicion, supported by microscopy and timely genetic confirmation, enabled pre-HLH diagnosis and referral for haematopoietic stem cell transplantation. This report contributes to the limited global literature and highlights the diagnostic significance of clinical, microscopic and familial clues in identifying GS2 early.
Authors: Shivani Gahlot, Seeba Hussain
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4415099432