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Case Reports
. 2025 Oct 30;19(1):556.
doi: 10.1186/s13256-025-05637-w.

Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report

Elisamia Ngowi  1   2 , Rukhsar Osman  3   4 , Hajaj Mohamed Salum  3   4 , Maria Bulimba  3   4 , Evance Godfrey  5 , Aika Abia Shoo  5 , Nahida Z Walli  3   4 , Mohamedraza Ebrahim  3   4 , Mariam Noorani  3   4 , Peter M Swai  5   6 , Francis F Furia  6
Affiliations
Case Reports

Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report

Elisamia Ngowi et al. J Med Case Rep. .

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.

Keywords: Autoinflammatory; Hyper-IgD syndrome (HIDS); Mevalonate kinase deficiency (MKD); Mevalonate kinase gene (MVK); Mevalonic aciduria (MVA); Primary immunodeficiency; Rare disease; Recurrent fever.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: Not applicable. Informed consent: Written informed consent was obtained from the patient’s legal guardian for the publication of this case report and the accompanying images. A copy of the written consent is available for review by the corresponding author. Competing interests: The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Skin manifestations of the index patient. A Erythematous macular rash with irregular borders on the lateral aspect of right leg and instep of right foot. B Erythematous macular rash on the anterior aspect of right leg and bridge of right foot (images for trunk lesions not available).
Fig. 2
Fig. 2
A An X-ray of the left elbow joint of the index patient showed features suggestive of Erlenmeyer flask bone deformity (blue arrows) of the left distal humerus with a bone-in-bone appearance of the distal humerus and proximal ulna (red arrows), which are features suggestive of autosomal dominant osteopetrosis. B Swelling of the elbow
Fig. 3
Fig. 3
X-ray of the left leg, taken in the anteroposterior (AP) and lateral view. There is a periosteal reaction along the medial mid-shaft of the tibia with some ill-defined sclerotic changes in the adjacent bone, which is suggestive of osteomyelitis
See this image and copyright information in PMC

References

    1. Govindaraj GM, Jain A, Peethambaran G, Bhoyar RC, Vellarikkal SK, Ganapati A, et al. Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from hyperimmunoglobulin D syndrome. PLoS ONE. 2020;15(8): e0237999. - PMC - PubMed
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