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A 3-month-old male infant presents with seizures, hypotonia, and failure to thrive. He has sparse, kinky, colorless hair ("steel wool"). Labs show low serum copper and ceruloplasmin.
XLR; ATP7A (copper transporter)
- Sparse, kinky, hypopigmented hair (pili torti)
- Progressive neurodegeneration, seizures
- Connective tissue abnormalities (bladder diverticula, vascular tortuosity)
- Hypothermia
- Low copper and ceruloplasmin
Death: Usually by age 3 years
- Low serum copper and ceruloplasmin in an affected male infant (note: low normal in healthy newborns, so interpret with caution)
- Confirm with ATP7A sequencing/deletion analysis; plasma and CSF catecholamine ratios can support the diagnosis
- Hair microscopy shows pili torti; brain MRI/MRA may show vascular tortuosity and neurodegeneration
- Subcutaneous copper (if started early, may improve outcomes)
"Men get Menkes": Menkes disease is X-linked recessive, primarily affecting males.