Albinism and Primary Immunodeficiency in Infants: A Case Study of Griscelli Syndrome.
Cureus
; 16(6): e62178, 2024 Jun.
Article
em En
| MEDLINE
| ID: mdl-38993473
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Cureus
Ano de publicação:
2024
Tipo de documento:
Article
País de publicação:
Estados Unidos