{Reference Type}: Case Reports
{Title}: Albinism and Primary Immunodeficiency in Infants: A Case Study of Griscelli Syndrome.
{Author}: Bouhafs N;N'joumi C;Elouali A;Babakhouya A;Rkain M;Benajiba N;
{Journal}: Cureus
{Volume}: 16
{Issue}: 6
{Year}: 2024 Jun
暂无{DOI}: 10.7759/cureus.62178
{Abstract}: 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.