Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome

Area of Science:

• Medical Genetics
• Pediatric Neurology

Background:

• Menkes disease is an X-linked inherited disorder affecting copper absorption, leading to copper deficiency.
• Key features include hair and facial abnormalities, severe neurological impairment, hypothermia, arterial, and bone issues, often resulting in a fatal outcome.

Observation:

• A case of Menkes disease presenting with progressive macrocephaly due to massive subdural hematomas is described.
• Femoral metaphyseal spurs were also noted, mimicking signs of nonaccidental injury like shaken baby syndrome.

Findings:

• The subdural hematomas and associated bone abnormalities in this Menkes disease case could be misdiagnosed.
• This highlights the importance of considering rare genetic disorders in the differential diagnosis of infant trauma.

Implications:

• Menkes disease should be included in the differential diagnosis for infants with unexplained subdural hematomas and neurological deficits.
• Early diagnosis of Menkes disease is crucial for appropriate management and genetic counseling.