Hypersarcosinemia presenting as acute leukoencephalopathy with restricted diffusion in a young child.

Abstract excerpt

BACKGROUND: Hypersarcosinemia, resulting from sarcosine dehydrogenase (SARDH) gene mutation, is a rare autosomal recessive disorder with variable, often nonspecific clinical presentations, leading to diagnostic difficulty and low clinical awareness. CASE PRESENTATION: A 6-year-old boy presented with clinical features suggestive of viral encephalitis, including headache, vomiting, intermittent fever, and lethargy....

Topics

• Humans
• Male
• Child
• Leukoencephalopathies
• Diagnosis, Differential
• Magnetic Resonance Imaging
• Mutation