Diffusion-weighted imaging in preclinical Leigh syndrome

Area of Science:

• Neuroscience
• Pediatric Neurology
• Medical Imaging

Background:

• Leigh syndrome is a severe, progressive neurodegenerative disorder affecting infants.
• Early diagnosis is crucial for management, but clinical presentation can be variable.
• Diffusion-weighted imaging (DWI) is a key tool in diagnosing brain abnormalities.

Observation:

• A preterm infant initially showed signs of intrauterine growth restriction, central apnea, and feeding difficulties, which improved.
• Initial brain MRI revealed transient, bilateral, symmetric white matter diffusion abnormalities.
• Later, the infant developed myoclonic seizures, ictal apnea, and consciousness deterioration, with new DWI abnormalities in the thalamus, basal ganglia, and brainstem.

Findings:

• Cerebrospinal fluid lactate levels were significantly elevated, confirming Leigh syndrome.
• This case represents the first report of Leigh encephalopathy with transient white matter DWI abnormalities preceding overt clinical symptoms.
• The initial white matter changes were distinct from later, more characteristic lesions.

Implications:

• Transient white matter DWI abnormalities, even without clear clinical signs, warrant consideration for Leigh syndrome in neonates.
• This finding expands the understanding of the early imaging manifestations of Leigh syndrome.
• Routine MRI screening in high-risk infants may detect subtle early changes suggestive of Leigh syndrome.