Subacute necrotizing encephalomyelopathy (Leigh disease): CT study.

Area of Science:

• Neurology
• Radiology
• Pediatric Neurology

Background:

• Leigh disease, also known as subacute necrotizing encephalomyelomyelopathy (SNE), is a rare familial neurodegenerative disorder.
• Characteristic neuroimaging findings on computed tomography (CT) scans often include low attenuation in the putamina.
• The variable presentation of SNE poses diagnostic challenges.

Purpose of the Study:

• To investigate the spectrum of CT scan findings in patients with Leigh disease (SNE).
• To evaluate the utility of CT in diagnosing SNE, particularly in atypical cases.
• To highlight the importance of clinical correlation when interpreting neuroimaging for SNE.

Main Methods:

• Retrospective analysis of CT scans from five patients with suspected Leigh disease (SNE).
• Histological confirmation of SNE in three of the five patients.
• Detailed review of imaging findings, focusing on gray and white matter lesions and basal ganglia involvement.

Main Results:

• CT findings in SNE were variable, reflecting the widespread distribution of the disease.
• One patient with confirmed SNE showed extensive gray matter lucency but normal basal ganglia.
• Another patient presented with diffuse white matter disease and basal ganglia involvement.

Conclusions:

• The radiological appearance of Leigh disease (SNE) on CT scans is not uniform and can vary significantly.
• Absence of typical basal ganglia abnormalities on CT should not exclude a diagnosis of SNE.
• Clinical context remains crucial for diagnosing Leigh disease, even with atypical neuroimaging findings.