# Unveiling the Gray: A Rare Case of Gray Platelet Syndrome With Hepatomegaly and Immune Dysregulation in a 14-Year-Old

## TL;DR

A 14-year-old boy with gray platelet syndrome shows unusual symptoms including liver enlargement and immune issues, suggesting broader health impacts of the disorder.

## Contribution

This case highlights atypical hepatomegaly and immune dysregulation in GPS, expanding understanding of its systemic effects.

## Key findings

- A homozygous NBEAL2 splice-site variant was identified in a patient with gray platelet syndrome.
- The patient exhibited hepatomegaly and immune dysregulation, indicating GPS affects multiple hematopoietic lineages.
- Findings suggest GPS may increase susceptibility to autoimmune disorders.

## Abstract

Gray platelet syndrome (GPS) is a rare inherited platelet disorder characterized by the presence of gray platelets on blood smears, resulting from a deficiency of α-granules. The thrombocytopenia presents in a spectrum of bleeding tendencies, varying among different patients. We present a case of a 14-year-old male presenting with recurrent epistaxis, thrombocytopenia, hepatosplenomegaly, and recurrent infections that had not been diagnosed previously. Whole-exome gene sequencing revealed a homozygous likely pathogenic splice-site variant in the NBEAL2 gene, confirming the diagnosis of GPS, which is inherited in an autosomal recessive manner due to biallelic variants in NBEAL2. The patient had atypical hepatomegaly and low lymphocyte and monocyte counts, findings consistent with emerging evidence that GPS affects multiple hematopoietic lineages. It also contributes to immune dysregulation and results in increased susceptibility to autoimmune disorders, highlighting the need for guidelines to screen for autoimmune complications in GPS patients.