ArticleJournal of medical case reports2025
Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report.
Article in Journal of medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundHyperimmunoglobulin 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.
conclusionThis 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.
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