%0 Case Reports
%T Albinism and Primary Immunodeficiency in Infants: A Case Study of Griscelli Syndrome.
%A Bouhafs N
%A N'joumi C
%A Elouali A
%A Babakhouya A
%A Rkain M
%A Benajiba N
%J Cureus
%V 16
%N 6
%D 2024 Jun
%M 38993473
暂无%R 10.7759/cureus.62178
%X Griscelli syndrome (GS) type II is a rare hereditary disorder characterized by partial albinism, immunodeficiency, and the subsequent development of hemophagocytic syndrome (HPS). Herein, we present a case involving a four-month-old infant admitted to our facility due to a prolonged fever complicated by HPS. The diagnosis of GS type 2 was established based on a constellation of clinical and laboratory findings: consanguinity, familial history of early infectious fatalities, ocular-cutaneous hypopigmentation, characteristic silvery hair sheen, onset of HPS, and notably, the pathognomonic appearance upon microscopic examination of a hair sample. The absence of giant granules within nucleated cells helped exclude Chediak-Higashi syndrome.