Menkes Disease Mimicking Child Abuse

Area of Science:

• Pediatric neurology
• Medical genetics
• Skeletal dysplasias

Background:

• Menkes disease is a rare genetic disorder characterized by copper transport defects.
• Classic features include neurological impairment, developmental delay, and specific hair abnormalities.
• Initial presentations can be challenging, sometimes overlapping with non-accidental trauma.

Observation:

• A 5-month-old infant presented with multiple fractures suggestive of child abuse.
• Diagnostic workup revealed Menkes disease as the underlying cause.
• The patient exhibited fractures, subdural hematomas, and other skeletal abnormalities.

Findings:

• Copper deficiency in Menkes disease causes connective tissue abnormalities.
• These abnormalities can manifest as fractures, subdural hematomas, and metaphyseal spurring.
• Skeletal findings can be misdiagnosed as non-accidental trauma.

Implications:

• Highlights the importance of considering metabolic disorders in suspected abuse cases.
• Emphasizes the need for comprehensive evaluation beyond initial trauma indicators.
• Early identification of Menkes disease is critical for timely intervention and management.