Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy

Area of Science:

• Mitochondrial Medicine
• Neurogenetics
• Rare Diseases

Background:

• Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder.
• Pathogenic biallelic variants in the ETHE1 gene cause this condition.
• The disease results from deficiency in mitochondrial sulfur dioxygenase, leading to downstream effects.

Purpose of the Study:

• To describe the occurrence and characteristics of strokelike episodes in patients with ethylmalonic encephalopathy.
• To document neuroimaging findings associated with these strokelike episodes.
• To report on the long-term sequelae of strokelike episodes in this disorder.

Main Methods:

• Case series describing three patients with ethylmalonic encephalopathy.
• Clinical presentation review, including neurological symptoms.
• Brain magnetic resonance imaging (MRI) analysis for strokelike abnormalities and long-term changes.

Main Results:

• Three patients with ethylmalonic encephalopathy presented with strokelike episodes during acute illness.
• Brain MRI revealed strokelike abnormalities in these patients.
• One patient showed evolution of abnormalities into cystic changes over time.

Conclusions:

• Strokelike episodes represent a potential, previously underreported, neurological manifestation of ethylmalonic encephalopathy.
• Neuroimaging is crucial for identifying these episodes and monitoring long-term brain changes.
• Further research is needed to understand the pathophysiology and management of strokelike episodes in this rare mitochondrial disorder.