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Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
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Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion

Merce Pineda1, Aida Ormazabal, Esther López-Gallardo

  • 1Servicios de Neuropediatría, Bioquímica y Endocrinología, Hospital Sant Joan de Déu, Clínic, Barcelona, Spain. pineda@hsjdbcn.org

Annals of Neurology
|December 21, 2005
PubMed

Insights

This study describes a child with Kearns-Sayre syndrome experiencing severe cerebrospinal fluid folate deficiency. Treatment with folinic acid led to remarkable clinical improvement and normalized white matter imaging.

Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Kearns-Sayre syndrome is a rare mitochondrial disorder.
  • Cerebral folate deficiency can cause neurological symptoms.

Observation:

  • A child with incomplete Kearns-Sayre syndrome presented with profound cerebrospinal fluid (CSF) folate deficiency.
  • Blood folate levels were normal, but CSF folate was significantly low, indicating a potential blood-brain barrier transport issue.

Findings:

  • The patient exhibited leukoencephalopathy on cranial MRI.
  • Treatment with folinic acid resulted in remarkable clinical improvement and near-normalization of white matter on MRI after one year.

Implications:

  • This case highlights the importance of investigating cerebral folate deficiency in mitochondrial disorders.
  • Cerebral folate deficiency should be considered in patients with mitochondrial disorders and white matter lesions.
Abstract

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