title: Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging.
abstract: OBJECTIVE
  To evaluate patients with incontinentia pigmenti for evidence of cerebrovascular disease using magnetic resonance imaging techniques.
  
  
  METHODS
  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.
  
  
  METHODS
  The Johns Hopkins Medical Institutions, Baltimore, Md, a tertiary, referred care center.
  
  
  METHODS
  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.
authors.affiliation: Department of Ophthalmology, Johns Hopkins Medical Institutions, Baltimore, Md., USA.
authors.forename: A G
authors.initials: AG
authors.lastname: Lee
authors.forename: M F
authors.initials: MF
authors.lastname: Goldberg
authors.forename: J H
authors.initials: JH
authors.lastname: Gillard
authors.forename: P B
authors.initials: PB
authors.lastname: Barker
authors.forename: R N
authors.initials: RN
authors.lastname: Bryan
mesh_terms: D000328:Adult; D001921:Brain / Q000098:blood supply / Q000473:pathology; D005260:Female; D006801:Humans; D007184:Incontinentia Pigmenti / Q000175:diagnosis* / Q000473:pathology*; D007231:Infant, Newborn; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008875:Middle Aged