Recurrent Hospitalisation in a Child With Hypopigmented Hair: Inborn Errors of Immunity Emerge

Griscelli syndrome is a rare autosomal recessive disorder characterised by pigmentary dilution of skin and hair, recurrent skin and pulmonary infections, neurological manifestations, and immunodeficiency. We present a four-month-old female child with hypopigmented silvery hair and a history of recurrent hospitalisations for respiratory illness. The child was extensively evaluated for inborn errors of immunity (IEI), and the final diagnosis of type 2 Griscelli syndrome was made only after genetic testing. Antibiotic and antifungal prophylaxis was initiated, and the child is currently in good health. The family was counselled regarding haematopoietic stem cell transplant (HSCT) as the only curative option and the need for prenatal testing in further pregnancies. This case emphasises the need for a high index of clinical suspicion in diagnosing IEI and also highlights the limited therapeutic options and the role of genetic counselling.