Menkes disease: report of two cases in siblings

Menkes syndrome or Twisted Hair Syndrome and trichopolyodistrophy is a rare, X-linked recessive neurodegenerative disorder, characterized by a disturbance in copper metabolism. The diagnosis is clinically suggested by the classic triad of features (developmental delay, neurological degeneration and malformation of the hair) and with the demonstration of reduction of serum copper and ceruloplasmin. We report on the case of two brothers, diagnosed with Menkes syndrome, emphasizing also the rarity of this event and the current treatments of limited effectiveness.