Chediak–Higashi syndrome – A Rare Case Report

ABSTRACT

A 4-year-old female child born out of a consanguineous marriage, full-term normal vaginal delivery, presented with multiple hypopigmented macules giving mottled pigmentation over the face and neck. There was a history of swelling and pain in the right ear and recurrent skin infections. On examination, she had a silvery gray hair, mottled pigmentation over the face and neck, perichondritis of right ear, impetiginous lesions over the lower limbs, hepatomegaly. Ophthalmological examination revealed partial oculocutaneous albinism and nystagmus. Routine blood investigations were within normal limits. Peripheral smear examination revealed prominent granules within the leukocytes. Hair shaft examination revealed regularly arranged small clumps of melanin. It was diagnosed as a case of Chediak–Higashi syndrome. This case is presented for its rarity.