Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report

Background Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in RAB27A gene. It is primarily characterized by a combination of partial albinism, hemophagocytic lymphohistiocytosis (HLH) or other immunodeficiency. However, neurological involvement at onset in G...

Full description

Saved in:
Bibliographic Details
Published inBMC pediatrics Vol. 21; no. 1; pp. 1 - 253
Main Authors Zhang, Qing, Zhao, Yun-Ze, Ma, Hong-Hao, Wang, Dong, Zhang, Nan, Li, Zhi-Gang, Zhang, Rui
Format Journal Article
LanguageEnglish
Published London BioMed Central Ltd 31.05.2021
BioMed Central
BMC
Subjects
Abdomen
Albinism
Ataxia
Biopsy
Brain diseases
Care and treatment
Case Report
Case reports
Case studies
Causes of
Central nervous system involvement
Diagnosis
Disease
Family medical history
Genes
Griscelli syndrome
Griscelli syndrome type 2
Hair
Hemoglobin
Hemophagocytic lymphohistiocytosis
Hernias
Immunology
Inhibitor drugs
Intracranial pressure
Laboratories
Lymphatic diseases
Magnetic resonance imaging
Mutation
Nervous system
Patients
Pediatric research
Pediatrics
Proteins
RAB27A
Stem cell transplantation
Stem cells
Ultrasonic imaging
China
Online AccessGet full text

Cover

More Information
Summary:Background Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in RAB27A gene. It is primarily characterized by a combination of partial albinism, hemophagocytic lymphohistiocytosis (HLH) or other immunodeficiency. However, neurological involvement at onset in GS2 and treatment has rarely been described. Case presentation We describe a 3-year-old boy with GS2 in an Asian Chinese family. He presented with progressive neurological abnormalities following unremitting fever at onset. He developed HLH during the clinical course. A novel homozygous mutation (c.1 A > G) in RAB27A gene was subsequently identified. He was then treated by HLH-1994 protocol combined with ruxolitinib and experienced a dramatic remission. He subsequently underwent a successful haploidentical hematopoietic stem cell transplantation and stayed at a good condition. Conclusions We reported an atypical form of GS2 manifesting as severe central nervous system involvement at onset and subsequent HLH, which was successfully rescued in time. This case also highlights the need for early consideration of immunologic and genetic evaluation for HLH in unexplained neuroinflammation in the diagnostic work up. Keywords: Griscelli syndrome type 2, RAB27A, Hemophagocytic lymphohistiocytosis, Central nervous system involvement
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:1471-2431
1471-2431
DOI:10.1186/s12887-021-02720-1