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Hypomelanosis of Ito and Moyamoya disease

Mubeen F Rafay1, Amna Al-Futaisi, Shelly Weiss

  • 1Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada. mubeen.rafay@utoronto.ca

Journal of Child Neurology
|January 19, 2006
PubMed

Insights

This case study highlights a rare association between Hypomelanosis of Ito and Moyamoya disease. Early neuroimaging is crucial for children with Hypomelanosis of Ito and neurological symptoms.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Medicine

Background:

  • Moyamoya disease involves progressive stenosis of the circle of Willis arteries, leading to collateral circulation.
  • Neurocutaneous syndromes, like neurofibromatosis 1, have established links with Moyamoya disease.
  • Hypomelanosis of Ito is a neurocutaneous disorder characterized by hypopigmented skin whorls and neurological deficits.

Observation:

  • A 17-year-old female presented with severe seizures, left-sided weakness, and skin findings consistent with Hypomelanosis of Ito.
  • Angiography confirmed the presence of Moyamoya disease in the patient.
  • This represents the second reported case linking Hypomelanosis of Ito and Moyamoya disease.

Findings:

  • The case demonstrates a potential association between Hypomelanosis of Ito and Moyamoya disease.
  • The patient's neurological symptoms, including intractable seizures and hemiparesis, were significant.
  • The characteristic skin manifestations of Hypomelanosis of Ito were present.

Implications:

  • This case suggests that the association between Hypomelanosis of Ito and Moyamoya disease may be more than coincidental.
  • Neuroimaging, especially angiography, should be considered in the evaluation of children with Hypomelanosis of Ito exhibiting neurological abnormalities.
  • Further research is warranted to understand the underlying mechanisms connecting these two rare conditions.

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