Menkes Disease

  • Etiology: genetic
  • Imaging:
    — Musculoskeletal: metaphyseal spurs, diaphyseal fractures, Wormian bones
    — Genitourinary: hydroureteronephrosis, bladder diverticula
    — Neurological: tortuous intracranial arteries, cerebral atrophy, cerebellar atrophy
  • DDX: child abuse
  • Clinical: kinky hair

Cases of Menkes Disease