# Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report

## TL;DR

A 3-year-old boy with recurring infections and unusual hair and skin pigmentation had giant cytoplasmic inclusions in his blood cells, suggesting a rare genetic disorder.

## Contribution

This case report highlights the importance of blood smear analysis in diagnosing rare genetic conditions like Chédiak-Higashi syndrome.

## Key findings

- The patient showed giant cytoplasmic granules in leukocytes, especially neutrophils.
- Clinical signs included hypopigmentation and recurrent infections, suggesting Chédiak-Higashi syndrome.
- Molecular testing for LYST gene mutations is crucial for confirming the diagnosis.

## Abstract

Giant inclusions in leukocytes is a common feature that can be observed in some infections but can be also related to rare genetic disorders such as Chédiak-Higashi syndrome (CHS). A differential diagnosis between these groups of diseases has to be performed using specific genetic tests. Clinical and pathological history is relevant for a diagnostic orientation due to the difficulty and specificity of the diagnostic confirmation.

We present the case of a 3-years-old male patient with recurrent respiratory infections. It is important to highlight the presence of a lock of white hair on the front of the head and some hypopigmentation of the skin. In the blood smear, the presence of big cytoplasm granules in all the leukocytes, especially in neutrophils.

CHS is an uncommon genetic disorder caused by the mutation in the LYST gene situated in chromosome 1q42.3 which codified for LYST protein. Molecular genetic testing also can be done to detect the biallelic variants in the LYST gene. It is essential to perform peripheral blood smears in the presence of changes in quantitative and/or qualitative values in the complete blood count as a first step in the diagnosis algorithm.