Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging
A. G. Lee, M. F. Goldberg, J. H. Gillard, P. B. Barker and R. N. Bryan
Department of Ophthalmology, Johns Hopkins Medical Institutions, Baltimore, Md., USA.
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.
