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Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging.

OBJECTIVE: To evaluate patients with incontinentia pigmenti for evidence of cerebrovascular disease using magnetic resonance imaging techniques.

DESIGN: A prospective case series of seven patients (four of whom were related) with incontinentia pigmenti using magnetic resonance imaging, magnetic resonance angiography, and multislice proton (1H) magnetic resonance spectroscopic imaging.

SETTING: The Johns Hopkins Medical Institutions, Baltimore, Md, a tertiary, referred care center.

PATIENTS: Seven patients with a diagnosis of incontinentia pigmenti.

RESULTS: Five of the seven patients had abnormal magnetic resonance imaging consistent with small-vessel occlusions. Of these five patients, four had normal magnetic resonance angiography and spectroscopic imaging, and one patient had reduced middle cerebral artery flow on magnetic resonance angiography and increased lactate level in the cerebrospinal fluid on spectroscopic imaging. The remaining two patients had normal magnetic resonance imaging and spectroscopic imaging. Of these two patients, one had normal magnetic resonance angiography and the other had a right supraclinoid internal carotid aneurysm. There was substantial concordance between clinical (ophthalmic/neurologic) and imaging abnormalities.

CONCLUSIONS: The central nervous system changes in patients with incontinentia pigmenti may represent the result of small-vessel occlusive phenomena in the brain. These central nervous system findings may share a common pathophysiologic state with the vascular occlusive disease seen in the retinas of these patients. The changes in the retinal vasculature may serve as a potential marker for central nervous system disease. Physicians should be aware of the systemic and debilitating nature of incontinentia pigmenti.

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