Menkes Disease

  • Etiology: Problem with copper metabolism
  • Imaging:
    — Genitourinary: Hydroureteronephrosis, bladder diverticula
    — Musculoskeletal: Metaphyseal spurs, diaphyseal fractures, Wormian bones
    — Neurological: Tortuous intracranial arteries, cerebral atrophy, cerebellar atrophy
  • DDX: Child abuse
  • Complications:
  • Treatment:
  • Clinical: Kinky hair

Radiology Cases of Menkes Disease

MRA of tortuous intracranial vessels in Menkes disease
Coronal MIP MRA with contrast of the brain (above) shows tortuosity of the bilateral middle and anterior cerebral arteries and vertebrobasilar system which is also appreciated on the axial MIP MRA (below).
Radiograph of Menkes disease
AP radiograph of the forearm shows metaphyseal widening of the distal radius and ulna.