Acute Choreoathetosis and Multisystem Inflammatory Syndrome in Children (MIS-C) Associated With a Novel Homozygous

Authors

• Kornkanok Saringkarisate
• Joshua I Umland
• Rodolfo E Bégué
• Sophia B Hufnagel
• Keith K Abe
• Laurie H. Seaver, Corewell Health West
• Prashant J Purohit

Document Type

Article

Publication Date

5-2026

Publication Title

Journal of Child Neurology

Abstract

A 3-year-old boy with speech delay presented with fever and choreoathetosis, progressing to cardiogenic shock and respiratory failure. He met diagnostic criteria for multisystem inflammatory syndrome in children (MIS-C) and improved with treatment, which included intravenous immune globulin (IVIG), methylprednisolone, and anakinra per hospital protocol. Following sedation weaning, choreoathetosis recurred. Repeat brain MRI revealed new symmetric T2 hyperintensity and restricted diffusion in the globi pallidi. He was discharged with persistent developmental regression, hypotonia, and choreoathetosis. Four months later, he was readmitted with respiratory failure from a human metapneumovirus infection and died from refractory cardiogenic shock and multiorgan failure. Posthumous exome sequencing identified a homozygous variant of unknown significance in

First Page

8830738261447162

Last Page

8830738261447162

Recommended Citation

Saringkarisate K, Umland JI, Bégué RE, Hufnagel SB, Abe KK, Seaver LH, et al. Acute choreoathetosis and multisystem inflammatory syndrome in children (MIS-C) associated with a novel homozygous MDH2 variant. J Child Neurol. 2026:8830738261447162. doi: 10.1177/08830738261447162. PMID: 42153796.

Comments

Helen DeVos Children's Hospital

DOI

10.1177/08830738261447162

ISSN

1708-8283

PubMed ID

42153796