Griscelli syndrome type 2 - A rare case report of pediatric immunodeficiency and neurological implications

Sep 30, 2026

Uploaded by Aldword

Griscelli syndrome (GS) is a rare autosomal recessive disorder combining partial oculocutaneous albinism with immunodeficiency and neurological involvement, classified into three genetic types. The report describes a 1-year-old boy with hyperthermia, diarrhea, vomiting, silvery-gray hair, and hypopigmented skin, plus tachycardia, hepatosplenomegaly, anemia, thrombocytopenia, and elevated triglycerides. Neurologically, he showed developmental delay and hyperreflexia. Diagnosis was GS type 2 via clinical and laboratory findings, managed with supportive care, antibiotics, and transfusions.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages4

Reading Time10 min

AccessFree to download

Introduction

Griscelli syndrome overview

GS type 1

GS type 2

GS type 3

Case presentation

® Clinical Case Report Griscelli syndrome type 2 A rare case report of pediatric immunodeficiency and neurological implications Malaka Abubakir, MSa ,* , Noura Abdul Rahman, MDb , Adel Hamza, MSa , Sarah Haj Kasem, MSa , Mohammad Ali Khayata, MSa , Doaa Kouja, MDb | Abstract
Rationale: Griscelli syndrome (GS) is a rare autosomal recessive disorder marked by partial oculocutaneous albinism, immunodeficiency, and neurological issues. It has 3 types based on genetic mutations. This report focuses on a patient with GS type 2, characterized by immune abnormalities and neurological symptoms, with only 160 cases documented globally.
Patient concerns: A 1-year-old boy presented with hyperthermia, diarrhea, and vomiting, revealing hypopigmented skin and silvery-gray hair. He exhibited tachycardia, abdominal distension, hepatosplenomegaly, and signs of immunocompromise. Neurologically, he showed developmental delays and hyperreflexia. Lab tests indicated anemia, thrombocytopenia, and elevated triglycerides.
Diagnoses: Based on clinical history and laboratory tests diagnosed with GS type 2.
Interventions and outcomes: The patient received symptomatic treatment, antibiotics, and frequent transfusions, with strict infection prevention due to limited resources for stem cell transplantation.
Lessons: GS, identified in 1978, is a rare autosomal recessive disorder marked by partial albinism and immunodeficiency, with around 160 cases primarily from the Mediterranean. It comprises 3 types: GS1, GS2, and GS3, each with unique genetic and clinical features. GS1 exhibits partial albinism and neurological issues without immune effects due to MYO5A mutations. GS2 presents severe immunodeficiency and risks such as hemophagocytic lymphohistiocytosis linked to RAB27A mutations. GS3, caused by melanophilin gene mutations, has a better prognosis. Diagnosis involves hair microscopy and genetic testing, and while supportive treatments exist, early diagnosis is vital for improved outcomes. GS is a rare genetic disorder with varied symptoms, categorized into 3 types, requiring genetic testing for diagnosis and treatment ranging from management to stem cell transplantation. Abbreviations: CHS = Chédiak-Higashi syndrome, CNS = central nervous system, GS = Griscelli syndrome, HLH = hemophagocytic lymphohistiocytosis, NK = natural killer. | | --- | | Keywords: albinism, case report, genetic disorder, Griscelli syndrome, immunodeficiency, type 2 | 1. Introduction Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological manifestations. [1] The first case was reported in 1978.[1] GS is classified into 3 types based on the underlying genetic mutations and clinical features. [2] A hallmark of the syndrome is the presence of silvery-gray hair and hypopigmented skin. [2] GS type 1 is caused by mutations in the MYO5A gene, which plays a critical role in organelle transport within neuronal cells and melanocytes. This leads to partial albinism and neurological deficits. [1] Clinically, patients with GS type 1 exhibit significant neurological alterations, including developmental delays, seizures, intellectual disabilities, and hypotonia (weak muscle tone) . [2] GS type 2 results from mutations or dysregulation of the RAB27A gene, which is particularly important in specific cell types such as melanocytes, cytotoxic T lymphocytes, and NK cells. [1] Affected individuals are prone to immune system abnormalities and may develop hemophagocytic syndrome due to the overactivity of macrophages and T lymphocytes. [2] Written informed consent was obtained from the patient’s legal guardians for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal upon request. The authors have no funding and conflicts of interest to disclose. Data sharing not applicable to t

FAQs

What is the key genetic basis of Griscelli syndrome type 2 in this report?

GS type 2 results from mutations or dysregulation of the RAB27A gene, which is important in melanocytes and immune cell subsets such as cytotoxic T lymphocytes and NK cells.

What symptoms and clinical findings were observed in the 1-year-old patient?

The patient presented with hyperthermia, diarrhea, vomiting, and an upper respiratory tract infection, along with hypopigmented skin and silvery-gray hair, tachycardia, abdominal distension, hepatosplenomegaly, anemia, thrombocytopenia, and elevated triglycerides.

How was the GS type 2 diagnosis and management approach handled?

Diagnosis was established based on clinical history and laboratory tests for GS type 2. Management focused on symptomatic treatment, antibiotics, frequent transfusions, and strict infection prevention due to limited stem cell transplantation resources.

Sep 30, 2026

Uploaded by Aldword