CT scans in Menkes disease

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Menkes disease is a rare X-linked recessive disorder caused by mutations in the copper-transporting P-type ATPase gene (ATP7A).
• It is characterized by copper deficiency in the brain and other organs, leading to severe neurological impairment.
• Diagnosis is often delayed due to nonspecific initial symptoms.

Observation:

• This study describes the clinical courses and serial computerized tomography (CT) scans of four male infants diagnosed with Menkes disease.
• Initial clinical presentations were similar, but head growth and CT findings exhibited significant individual variability.
• CT scans ranged from normal early in the disease to showing diffuse cortical atrophy, subdural fluid accumulation, or multifocal ischemic infarction.

Findings:

• Pathologic findings included cerebral and cerebellar atrophy in one patient.
• Another patient exhibited ischemic infarction, likely due to abnormal cerebral vasculature.
• The diverse imaging findings highlight the complex pathophysiology of Menkes disease.

Implications:

• Menkes disease should be suspected in male infants with psychomotor deterioration and seizures.
• Abnormalities such as subdural hematoma and multiple fractures may indicate Menkes disease, especially when trauma is suspected.
• Recognizing the variability in clinical presentation and imaging is essential for timely diagnosis and management.