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Case Reports
. 2024 Jul 23;16(7):e65209.
doi: 10.7759/cureus.65209. eCollection 2024 Jul.

Mevalonic Aciduria in a Pediatric Patient: A Case Report and Literature Review of Neuroimaging Findings

Mateus A Esmeraldo  1 , Izaely R Prates  1 , Leandro T Lucato  1 , Alcino A Barbosa Junior  1
Affiliations
Case Reports

Mevalonic Aciduria in a Pediatric Patient: A Case Report and Literature Review of Neuroimaging Findings

Mateus A Esmeraldo et al. Cureus. .

Abstract

Mevalonic aciduria is a rare autosomal recessive disorder resulting from mevalonate kinase deficiency. Neuroimaging findings associated with the disease have been documented in only a few case reports. We present a case of mevalonic aciduria with both already reported and novel neuroimaging findings and conduct a literature review regarding the role of neuroimaging in the understanding and diagnosis of mevalonate kinase deficiency disorders. The brain magnetic resonance imaging of the reported case revealed several notable findings, including polymicrogyric cortical thickening, an interhypothalamic adhesion or small hypothalamic hamartoma (findings not classically associated with mevalonic aciduria), and mild cerebellar atrophy. This case underscores the significance of recognizing the diverse spectrum of neuroimaging findings associated with the disease, encompassing both well-documented features and those that have not been traditionally reported.

Keywords: hyperimmunoglobulin d syndrome; metabolic disorders; mevalonic aciduria; mvk gene mutation; neuroimaging.

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Conflict of interest statement

Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. Axial (a) and coronal (b) T1-weighted MRIs.
Cortical thickening and micro-lobulation at the cortico-subcortical interface (white arrows) are noted in the mesial surface of the left frontal pole, specifically at the transition from the superior frontal gyrus to the gyrus rectus.
Figure 2
Figure 2. Coronal T2-weighted (a), axial T2-weighted (b), and fluid-attenuated inversion recovery (c) MRIs.
Cortico-subcortical bands with hyperintensities are noted in the periphery of the middle third of the cerebellar hemispheres, associated with slight regional volumetric reduction (white arrows). These findings likely indicate regional gliosis with slight atrophy.
Figure 3
Figure 3. T1-weighted (a) and fast imaging employing steady-state acquisition (b) sagittal MRIs.
Slight thinning of the corpus callosum isthmus and an oval formation with signal intensity similar to gray matter noted in the tuber cinereum, connecting both sides of the hypothalamus (white arrows).
Figure 4
Figure 4. Flow diagram of the systematic review.
See this image and copyright information in PMC

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References

    1. Mevalonate kinase deficiency: current perspectives. Favier LA, Schulert GS. Appl Clin Genet. 2016;9:101–110. - PMC - PubMed
    1. Mevalonic aciduria: an inborn error of cholesterol biosynthesis? Berger R, Smit GP, Schierbeek H, Bijsterveld K, le Coultre R. Clin Chim Acta. 1985;152:219–222. - PubMed
    1. Neurological manifestations in mevalonate kinase deficiency: a systematic review. Elhani I, Hentgen V, Grateau G, Georgin-Lavialle S. Mol Genet Metab. 2022;136:85–93. - PubMed
    1. The phenotype and genotype of mevalonate kinase deficiency: a series of 114 cases from the Eurofever registry. Ter Haar NM, Jeyaratnam J, Lachmann HJ, et al. Arthritis Rheumatol. 2016;68:2795–2805. - PubMed
    1. Mevalonic aciduria. Kozich V, Gibson KM, Zeman J, et al. J Inherit Metab Dis. 1991;14:265–266. - PubMed

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