Leukoencephalopathy with a mild clinical course: a case report.

Area of Science:

• Neuroscience
• Genetics
• Pediatric Neurology

Background:

• Infantile-onset leukoencephalopathy of van der Knaap type is a rare genetic white matter disorder.
• Previously, cases were often misdiagnosed as atypical variants of Alexander disease.
• Only 63 individuals have been reported in the English literature to date.

Observation:

• A four-year-old boy presented with infantile-onset megalencephaly.
• Clinical manifestations included delayed walking, clumsiness, and convulsions.
• Magnetic resonance imaging revealed diffuse white matter swelling and cystic cavitations.

Findings:

• The patient exhibited progressive megalencephaly and significant white matter abnormalities.
• MRI findings were consistent with leukoencephalopathy of van der Knaap type.
• Early neurological findings were near-normal despite severe white matter affection.

Implications:

• This case highlights the importance of recognizing infantile-onset leukoencephalopathy of van der Knaap type.
• Accurate diagnosis is crucial for appropriate management and genetic counseling.
• Further research is needed to understand the pathophysiology and develop treatments.