Year: 2026
Type: article
Study design: Case Report
Abstract: Griscelli syndrome type 1 (GS1) is a rare autosomal recessive condition resulting from mutations in the MYO5A gene, characterised by profound neurological dysfunction along with distinctive pigmentary changes. In contrast to Griscelli syndrome type 2 (GS2), linked to RAB27A mutations, and Chediak–Higashi Syndrome (CHS), associated with lysosomal trafficking regulator ( LYST ) mutations, GS1 is not accompanied by immunodeficiency or haematological abnormalities. Here, we present a 9-month-old female with fever, recurrent seizures, hypotonia and developmental delay, along with silvery-grey scalp hair, eyebrows and eyelashes. Hair shaft microscopy revealed abnormal large pigment clumps. The lack of immunodeficiency features and the absence of giant leucocyte granules excluded GS2 and CHS, respectively. Prompt identification of GS1 is crucial for supportive care and appropriate genetic counselling.
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W7124285667