%0 Journal Article %T Neurological manifestations in mevalonate kinase deficiency: A systematic review %+ CHU Tenon [AP-HP] %+ Groupe de recherche clinique Amylose AA Sorbonne Université (GRC 28 - GRAASU) %+ Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot) %A Elhani, Inès %A Hentgen, Véronique %A Grateau, Gilles %A Georgin-Lavialle, Sophie %< avec comité de lecture %@ 1096-7192 %J Molecular Genetics and Metabolism %I Elsevier %V 136 %N 2 %P 85-93 %8 2022-06 %D 2022 %R 10.1016/j.ymgme.2022.04.006 %M 35525811 %K Mevalonate kinase deficiency %K Inherited metabolic disorders %K Neurological manifestations %K Autoinflammatory disease %K MVK %Z Life Sciences [q-bio]/ImmunologyJournal articles %X 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. %G English %L inserm-04047819 %U https://inserm.hal.science/inserm-04047819 %~ INSERM %~ APHP %~ U933 %~ SORBONNE-UNIVERSITE %~ SORBONNE-UNIV %~ SU-MEDECINE %~ SU-MED %~ ALLIANCE-SU