CASE REPORT article
Front. Radiol.
Sec. Neuroradiology
Volume 5 - 2025 | doi: 10.3389/fradi.2025.1654311
Cerebellar Microhemorrhages: An Underrecognized Feature of MMA-HC Revealed by High-Field 7.0T MRI
Provisionally accepted
- 1st Medical Center of Chinese PLA General Hospital, Beijing, China
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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 3.0T MRI and 7.0T 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.
Keywords: Methylmalonic acidemia, Cerebral microhemorrhages, 7 Tesla MRI, Homocystinuria, SWI
Received: 26 Jun 2025; Accepted: 30 Sep 2025.
Copyright: © 2025 Ran, Li, Huo, Yu, Dong and Tian. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Chenglin Tian, tianchenglin719@aliyun.com
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