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Journal Articles (Review Article) Molecular Genetics and Metabolism Year : 2022

Neurological manifestations in mevalonate kinase deficiency: A systematic review


Introduction: Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory disease. Its manifestations range from partial MKD to mevalonic aciduria (MVA). All patients display a periodic fever, and MVA patients additionally exhibit severe neurological involvement. The objective of this work was to describe neurological manifestations of MKD. Methods: A systematic literature review was performed from January 1990 to January 2022. Forty-five patients from 18 case reports and five cohort studies were included in the analysis. Results: In cohort studies, the most-reported manifestations were headaches (41%) and fatigue (31%). Serious involvements including ataxia and developmental delay were described less than 1% of patients but 22-31% of case reports. They consistently appeared in the first years of life. Retinal dystrophy was frequently reported (31%) in case reports. Other manifestations, including uveitis, aseptic meningitis, and stroke remained rare. Discussion: Severe neurological manifestations are rare in MKD but are responsible for major functional disabilities. They are present at onset and never appear at follow-up of patients with mild MKD. Conversely, headaches and fatigue are frequent symptoms that should be investigated. Visual examinations should be performed on the appearance of visual symptoms. The efficacy of anti-IL-1β therapy on neurological manifestations should be further investigated.
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Inès Elhani, Véronique Hentgen, Gilles Grateau, Sophie Georgin-Lavialle. Neurological manifestations in mevalonate kinase deficiency: A systematic review. Molecular Genetics and Metabolism, 2022, 136 (2), pp.85-93. ⟨10.1016/j.ymgme.2022.04.006⟩. ⟨inserm-04047819⟩
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