Neuroimaging in Menkes Disease.

Area of Science:

• Genetics
• Neurology
• Radiology

Background:

• Menkes disease (MD) is a rare, X-linked neurodegenerative disorder caused by mutations in the ATP7A gene.
• Clinical manifestations include failure to thrive, psychomotor retardation, seizures, and characteristic hypopigmented hair.
• Neuro-radiological findings are documented but a comprehensive spectrum is often not detailed.

Observation:

• Patients exhibit failure to thrive, psychomotor retardation, seizures, and hypopigmented hair.
• Neuro-radiological findings are common in affected individuals.
• This study details the neuro-radiological spectrum in three pediatric patients.

Findings:

• Magnetic resonance imaging (MRI) reveals characteristic abnormalities.
• Magnetic resonance angiography (MRA) provides valuable insights.
• Combined clinical and imaging findings aid in diagnosis.

Implications:

• Early and accurate diagnosis of Menkes disease is facilitated by MRI and MRA.
• Understanding the neuro-radiological spectrum improves patient management.
• This approach can lead to better outcomes for affected children.