Menkes Disease

  •    
     CHAD’S Kinky WIFE, CHANdra 
       
    XLR, ATP7A mutation, encodes ATP-dependent copper transporter
  • ↓ Serum copper levels, pili torti (most common), trichorrhexis nodosa, short brittle “steel wool” hair, sparse eyelashes/eyebrows, cupid’s bow upper lip, progressive CNS deterioration, seizures, tortuous arteries