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Case Report: Cerebellar microhemorrhages: an underrecognized feature of MMA-HC revealed by high-field 7.0 T MRI

Year: 2025

Type: article

Abstract: Cerebellar microhemorrhages have not been previously documented in methylmalonic acidemia with homocystinuria (MMA-HC), a rare inherited metabolic disorder. Herein, we reported an 18-year-old female presented with acute gait instability and dysarthria post-febrile illness. Biochemical testing revealed severe hyperhomocysteinemia. Brain MRI demonstrated bilateral cerebellar DWI/FLAIR hyperintensities. Whole-exome sequencing confirmed compound heterozygous MMACHC mutations, establishing cblC-type MMA-HC diagnosis. Symptoms resolved after one month of vitamin-based therapy. Follow-up 3.0 T MRI and 7.0 T MRI susceptibility-weighted imaging (SWI) uncovered multiple punctate cerebellar vermian microhemorrhages-a previously unreported finding. This case highlights an unusual adult-onset presentation of MMA-HC and represents the first report of SWI-detectable cerebellar vermis microhemorrhages with this condition, visualized. This finding suggests that cerebellar microhemorrhages may be an under-recognized feature in MMA-HC, particularly detectable using high-field SWI during acute exacerbations, and contributes to a more comprehensive understanding of the neurological complications in this metabolic disorder.

Source: Frontiers in Radiology

DOI: 10.3389/fradi.2025.1654311

Authors: Ye Ran, Wanjun Li, Yunyun Huo, Shengyuan Yu, Zhao Dong, Chenglin Tian

Institution: Chinese PLA General Hospital

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,353