# 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.

## Key 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.