In 1998, a literature review by van de Warrenburg et al. found: The major neurological abnormalities include intellectual disability to varying extent, seizures, and hemiparesis.

[2] It is thought to result from genetic mosaicism, possibly an autosomal dominant mutation arising after conception and present only in a subpopulation of cells.

The earlier in embryological development such a mutation occurs, the more extensive the nevi are likely to be and the greater the likelihood of other organ system involvement.

Laboratory investigations may include serum and urine calcium and phosphate, and possibly liver and renal function tests.

The choice of imaging studies depends on the suspected abnormalities and might include skeletal survey, CT scan of the head, MRI, and/or EEG.