Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

31 January 2024 : Case report  China (mainland)

[In Press] Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant

Challenging differential diagnosis, Rare disease, Rare coexistence of disease or pathology

Zhaoxia Zhang1ADE, Dong Liu1ABCDEF, Zhangbin Yu1DF, Zhihui Xiao1A, Keying Zhou1EF, Bo Li1AD

DOI: 10.12659/AJCR.943398

Am J Case Rep In Press; DOI: 10.12659/AJCR.943398  

Available online: 2024-01-31, In Press, Corrected Proof

Publication in the "In-Press" formula aims at speeding up the public availability of the pending manuscript while waiting for the final publication. The assigned DOI number is active and citable. The availability of the article in the Medline, PubMed and PMC databases as well as Web of Science will be obtained after the final publication according to the journal schedule

Abstract

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.

Keywords: Cytomegalovirus Infections; Gaucher Disease; Hearing Loss, Sensorineural; Whole Exome Sequencing

In Press

18 Jan 2024 : Case report  USA

A Case of Left-Sided Acute Appendicitis in a 45-Year-Old Man with Situs Inversus Totalis Managed by Emergen...

Am J Case Rep In Press; DOI: 10.12659/AJCR.942323  

0:00

23 Jan 2024 : Case report  USA

Cloacal Dysgenesis Sequence in a Preterm Neonate

Am J Case Rep In Press; DOI: 10.12659/AJCR.942203  

0:00

09 Feb 2024 : Case report  USA

A Case of Trauma-Related Angioedema of the Airway in a Patient on an Angiotensin Receptor Blocker

Am J Case Rep In Press; DOI: 10.12659/AJCR.943407  

0:00

30 Jan 2024 : Case report  Colombia

Bedside Ultrasound to Guide the Diagnosis and Treatment of Fulminant Right Heart Failure: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.942694  

0:00

Most Viewed Current Articles

10 Jan 2022 : Case report  Germany

A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...

DOI :10.12659/AJCR.935263

Am J Case Rep 2022; 23:e935263

19 Jul 2022 : Case report  Saudi Arabia

Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19

DOI :10.12659/AJCR.936128

Am J Case Rep 2022; 23:e936128

05 Mar 2022 : Case report  Brazil

Acute Limb Ischemia After Self-Injection of Crushed Morphine Tablets into the Radial Artery: Role of Infrar...

DOI :10.12659/AJCR.935336

Am J Case Rep 2022; 23:e935336

02 Apr 2022 : Case report  Saudi Arabia

Infective Endocarditis Caused by Pseudomonas luteola in a Pediatric Patient. A Case Report and Review of Li...

DOI :10.12659/AJCR.935743

Am J Case Rep 2022; 23:e935743

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923