Griscelli Syndrome: A Case Report from Pakistan, A Review of the Literature, and an Approach to Hematological Disorders Associated With Albinism

TL;DR

This paper reports a case of Griscelli Syndrome type 2 in a child from Pakistan and reviews related conditions linked to albinism.

Contribution

The paper provides a case report and literature review, proposing a diagnostic approach for albinism-related hematological disorders.

Findings

The patient met diagnostic criteria for hemophagocytic lymphohistiocytosis and was diagnosed with GS-2.

Hair shaft microscopy showed abnormal melanin clumping, supporting the diagnosis.

A literature review of 42 cases highlights the clinical features and diagnostic challenges of GS and related conditions.

Abstract

Griscelli syndrome (GS) is a rare genetic disorder that is classified into three distinct types. Partial oculocutaneous albinism is common to all three types. In addition, neurological abnormalities and immunodeficiency are seen in types 1 and 2, respectively. Hemophagocytic lymphohistiocytosis (HLH) is common in GS-2. We present a case of a four-year-old boy who presented with features of albinism, recurrent infections, and hepatosplenomegaly. His complete blood count (CBC) revealed pancytopenia, and bone marrow biopsy showed prominent hemophagocytic activity. Serum ferritin was elevated, and fibrinogen was low. The diagnostic criteria for HLH were met. Hair shaft microscopy revealed large, irregularly spaced clumps of melanin in the medulla. A diagnosis of GS-2 was made. Unfortunately, the patient died before mutation analysis could be performed.

Along with this case report, we have included a literature review of 42 cases from 33 case reports and case series. We also propose a diagnostic approach to three hematological disorders associated with albinism, Chediak-Higashi syndrome (CHS), Hermansky-Pudlak syndrome (HPS), and GS.

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