INTRACRANIAL ASSESSMENT OF INCONTINENTIA PIGMENTI USING MAGNETIC-RESONANCE-IMAGING, ANGIOGRAPHY, AND SPECTROSCOPIC IMAGING

Objective: To evaluate patients with incontinentia pigmenti for eviden ce of cerebrovascular disease using magnetic resonance imaging techniq ues. Design: A prospective case series of seven patients (four of whom were related) with incontinentia pigmenti using magnetic resonance im aging, magnetic resonance angiography,; and multislice proton (H-1) ma gnetic resonance spectroscopic imaging. Setting: The Johns Hopkins Med ical Institutions, Baltimore, Md, a tertiary, referred care center. Pa tients: Seven patients with a diagnosis of incontinentia pigmenti. Res ults: Five of the seven patients had abnormal magnetic resonance imagi ng consistent with small-vessel occlusions. Of these five patients, fo ur 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 pa tients, one had normal magnetic resonance angiography and the other ha d a right supraclinoid internal carotid aneurysm. There was substantia l concordance between clinical (ophthalmic/neurologic) and imaging abn ormalities. Conclusions: The central nervous system changes in patient s with incontinentia pigmenti may represent the result of small-vessel occlusive phenomena in the brain. These central nervous system findin gs may share a common pathophysiologic state with the vascular occlusi ve disease seen in the retinas of these patients. The changes in the r etinal vasculature may serve as a potential marker for central nervous system disease. Physicians should be aware of the systemic and debili tating nature of incontinentia pigmenti.