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Journal of Child Neurology
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*Skin Pigmentation Disorders
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Hypomelanosis of Ito and Moyamoya Disease

Mubeen F. Rafay

Division of Neurology Department of Pediatrics The Hospital for Sick Children, mubeen.rafay{at}utoronto.ca

Amna Al-Futaisi

Division of Neurology Department of Pediatrics The Hospital for Sick Children

Shelly Weiss

Division of Neurology Department of Pediatrics The Hospital for Sick Children

Derek Armstrong

Division of Neuroradiology Department of Diagnostic Imaging The Hospital for Sick Children Toronto, Ontario, Canada

Moyamoya disease is a cerebrovascular disease characterized by stenosis and occlusion of the arteries of the circle of Willis, with abnormal telangiectatic collateral circulation at the base of the brain. An association between moyamoya disease and neurofibromatosis 1, a neurocutanoeus disorder, is well established in the literature. However, its association with other neurocutaneous syndromes is infrequently reported. Hypomelanosis of Ito, another neurocutaneous syndrome, is characterized by macular hypopigmented skin whorls and variable neurologic involvement. Only one case study of an association between hypomelanosis of Ito and moyamoya disease has been reported in the English literature. We report a 17-year-old girl with both hypomelanosis of Ito and angiographic moyamoya disease. She presented with intractable seizures, progressive left hemiparesis, and skin manifestations of hypomelanosis of Ito. Although one might consider a coincidental association, this second case points to an association between the two disorders. Detailed neuroimaging, in particular angiography, should be considered in children with hypomelanosis of Ito and abnormal neurologic findings. ( J Child Neurol 2005;20:924—926).

Journal of Child Neurology, Vol. 20, No. 11, 924-926 (2005)
DOI: 10.1177/08830738050200111301
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