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Neurological manifestations in mevalonate kinase deficiency: A systematic review
Inès Elhani1, Véronique Hentgen2, Gilles Grateau3
1Sorbonne University, Department of Internal Medicine, AP-HP, Hôpital Tenon, Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses Inflammatoire (CEREMAIA), Paris, France; Department of Pediatrics, National Reference Center for Auto-inflammatory Diseases and Amyloidosis, CEREMAIA, Versailles Hospital, Versailles, France.
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.
Insights
Mevalonate kinase deficiency (MKD) can cause severe neurological issues, though rare. Headaches and fatigue are common, while serious symptoms like ataxia and developmental delay appear early in severe cases.
Area of Science:
- Immunology
- Neurology
- Genetics
Background:
- Mevalonate kinase deficiency (MKD) is a monogenic autoinflammatory disease with a spectrum of severity, from partial MKD to mevalonic aciduria (MVA).
- Periodic fever is a hallmark of MKD, with MVA patients experiencing severe neurological involvement.
- Understanding the neurological manifestations of MKD is crucial for diagnosis and management.
Purpose of the Study:
- To systematically review and describe the neurological manifestations in patients with Mevalonate kinase deficiency (MKD).
Main Methods:
- A systematic literature review was conducted for studies published between January 1990 and January 2022.
- Data from 45 patients across 18 case reports and 5 cohort studies were analyzed.
Main Results:
- Headaches (41%) and fatigue (31%) were most common in cohort studies.
- Severe neurological issues like ataxia and developmental delay (<1% in cohorts, 22-31% in case reports) appeared early in life.
- Retinal dystrophy (31%) was frequent in case reports; uveitis, meningitis, and stroke were rare.
Conclusions:
- Severe neurological manifestations in MKD, while rare, cause significant disability and are present from onset.
- Headaches and fatigue are common and warrant investigation; visual assessments are recommended for visual symptoms.
- Further research into anti-IL-1β therapy for neurological symptoms in MKD is needed.
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