Griscelli Syndrome in Two Siblings with Silvery Hair: A Case Report

TL;DR

Two siblings with silvery hair and immune issues were diagnosed with Griscelli syndrome, a rare genetic disorder that can be managed with early diagnosis and treatment.

Contribution

This case report highlights the importance of early diagnosis and management of Griscelli syndrome in neonates with partial albinism and immunodeficiency.

Findings

Two neonates with partial albinism and neutropenia were diagnosed with Griscelli syndrome based on clinical and microscopic findings.

Early diagnosis enabled treatment options like bone marrow transplant and supportive care to prevent fatal complications.

The report emphasizes the role of family history and clinical suspicion in diagnosing rare genetic disorders.

Abstract

Griscelli syndrome (GS) is an uncommon disorder characterized by partial albinism, which gives hair a silvery-grey sheen and variable immunodeficiency or neurological impairment, with pancytopenia, immune dysfunction, hepatosplenomegaly, neurological impairment, hypogammaglobulinemia, and variable cellular immunodeficiency. Three variants GS1, GS2 and GS3 have been described in different phenotypes of the disease with varying presentation.

We present two neonates, born two years apart, to parents with third-degree consanguinity. Both had features of partial albinism and neutropenia at birth. Microscopy of hair showed characteristic large aggregates of pigment granules dispersed irregularly along the hair shaft. Given their family history and high clinical suspicion, a diagnosis of Griscelli syndrome was made. Early diagnosis of Griscelli syndrome can offer treatment options like Bone Marrow Transplant and prevent fatal complications like hemophagocytic lymphohistiocytosis. Supportive management during transplantation comprises of antimicrobial therapy, immunoglobulin replacement, and vigilant monitoring for complications like graft versus host disease.

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