Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant

Zhang, Zhaoxia1,2; Liu, Dong1,2; Yu, Zhangbin1,2; Xiao, Zhihui1,2; Zhou, Keying1,2; Li, Bo1,2

2024-03-21

10.12659/AJCR.943398

AMERICAN JOURNAL OF CASE REPORTS   影响因子和分区

1941-5923

Objective: Rare disease
Background: Gaucher disease is a rare autosomal recessive disorder characterized by mutations in the glucocerebrosidase gene, resulting in deficient enzyme activity and accumulation of glucocerebroside in macrophages, which leads to pathological changes in affected organs. The atypical clinical manifestations of Gaucher disease often contribute to delays in diagnosis and treatment.
Case Report: We present the case of a 4 -month -old female infant admitted to the Department of Pediatrics with progressive hepatosplenomegaly since birth. Concurrently, she had cytomegalovirus infection and sensory neurological hearing loss. Gaucher disease diagnosis was confirmed through whole-exome sequencing and validated by a glucocerebrosidase activity test, revealing the mutation site as c.1448T>C. This report outlines the differential diagnosis process for Gaucher disease in this infant before confirmation, contributing valuable insights for early diagnosis.
Conclusions: Our case underscores the challenge of diagnosing Gaucher disease due to its atypical presentation. The coexistence of cytomegalovirus infection complicates the clinical picture, emphasizing the need for careful differential diagnosis. Unfortunately, delayed diagnosis is all too common in rare diseases like Gaucher disease, even when the clinical presentation is seemingly typical. This highlights the need for increased awareness and education within the medical community to facilitate early recognition, which is essential for prompt intervention and improved outcomes. This report contributes valuable clinical and genetic information, aiming to enhance awareness and deepen the understanding of Gaucher disease in infants, particularly those with concurrent infections.

Cytomegalovirus Infections Gaucher Disease Hearing Loss Sensorineural Whole Exome Sequencing

ESCI

英语

通讯

General & Internal Medicine

Medicine, General & Internal

WOS:001235309500001

INT SCIENTIFIC INFORMATION, INC

Web of Science

1.Jinan Univ, Shenzhen Peoples Hosp, Dept Pediat, Clin Med Coll 2, Guangzhou, Peoples R China
2.Southern Univ Sci & Technol, Affiliated Hosp 1, Shenzhen, Guangdong, Peoples R China

Zhang, Zhaoxia,Liu, Dong,Yu, Zhangbin,et al. Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant[J]. AMERICAN JOURNAL OF CASE REPORTS,2024,25.

Zhang, Zhaoxia,Liu, Dong,Yu, Zhangbin,Xiao, Zhihui,Zhou, Keying,&Li, Bo.(2024).Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant.AMERICAN JOURNAL OF CASE REPORTS,25.

Zhang, Zhaoxia,et al."Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant".AMERICAN JOURNAL OF CASE REPORTS 25(2024).