Cranial nerve and cauda equina contrast enhancement in Cockayne syndrome.

A 9-month-old girl presented with psychomotor regression and acquired microcephaly beginning at age 6 months. Clinical evaluation showed axial hypotonia and increased muscle tone in all limbs, brisk tendon reflexes, and absent head control. Peripheral neuropathy was evident on neurophysiologic studies. Brain and spine MRI findings are shown in the figure. Molecular analysis identified homozygous c.162delT mutation in the ERCC8 gene, confirming the diagnosis of Cockayne syndrome (CS). Cranial nerve and cauda equina contrast enhancement (CE) might be related to either altered vascular permeability due to perivascular inflammation or to areas of active myelin breakdown. CS should be included in the differential diagnosis of infantileonset white matter disorders with positive CE.