Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report
Document Type
Artefact
Department
Internal Medicine (East Africa)
Abstract
Background
Hyperimmunoglobulin D syndrome is a rare autosomal recessive autoinflammatory syndrome caused by mevalonate kinase enzyme deficiency. It is characterized by recurrent febrile attacks beginning in the first year of life. Treatment is mainly supportive, and there are successful reports of trials of novel therapies such as anakinra and canakinumab.
Case presentation
We present a case of a 3-month-old girl from Tanzania, East Africa, who experienced recurrent febrile attacks, sepsis, and anemia since her first week of life. She also exhibited arthritis, generalized lymphadenopathy, urticaria, dermatitis, and failure to thrive. After multiple hospital admissions for similar symptoms, a diagnosis of primary immunodeficiency was considered and genetic testing revealed two heterozygous-like pathogenic variants in the mevalonate kinase gene.
Conclusion
This case highlights the importance of clinicians in low-resource settings to have a high index of suspicion for primary immunodeficiencies when managing patients with recurrent febrile infections and to consider genetic studies for accurate diagnosis.
AKU Student
yes
Publication (Name of Journal)
Journal of Medical Case Reports
DOI
https://doi.org/10.1186/s13256-025-05637-w
Recommended Citation
Ngowi, E.,
Osman, R.,
Salum, H. M.,
Bulimba, M.,
Godfrey, E.,
Shoo, A. A.,
Walli, N. Z.,
Ebrahim, M.,
Noorani, M.,
Swai, P. M.
(2025). Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report. Journal of Medical Case Reports, 19(556).
Available at:
https://ecommons.aku.edu/eastafrica_fhs_mc_intern_med/507