Albinism and Primary Immunodeficiency in Infants: A Case Study of Griscelli Syndrome

TL;DR

This case study describes a rare genetic disorder in an infant with albinism and immune issues leading to a severe syndrome.

Contribution

The paper presents a diagnostic case of Griscelli syndrome type II in an infant with detailed clinical and laboratory findings.

Findings

The infant exhibited symptoms of partial albinism, immunodeficiency, and hemophagocytic syndrome.

Microscopic hair examination revealed pathognomonic features confirming Griscelli syndrome type II.

Exclusion of Chediak-Higashi syndrome was based on the absence of giant granules in nucleated cells.

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.

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