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Incontinentia pigmenti: MR demonstration of brain changes
I Pascual-Castroviejo1, M C Roche, V Martinez Fernández
1Service of Pediatric Neurology, Hospital Infantil "Las Paz," Madrid, Spain.
Purpose:
To describe the MR findings in eight girls and women with incontinentia pigmenti, from two families. Four had skin lesions and neurologic disease, and four had only skin lesions.
Methods:
Eight patients had physical examination, family history, electroencephalogram and MR examination of the brain. MR was repeated in the two cases with more severe changes several years after the first study.
Results:
MR revealed brain changes only in the four patients who had neurologic disease associated with the cutaneous lesions of incontinentia pigmenti. Abnormalities were located in the cerebral hemisphere contralateral to the most affected side of the body. In two cases, the MR changes were subjacent to the scalp areas where the most severe cutaneous lesions were located in the neonatal period. Hypoplasia of the corpus callosum, probably secondary to atrophy of one or both cerebral hemispheres, and abnormal signal and atrophy of the lateral regions of one of the cerebellar hemispheres also were found in all four cases. Although the changes were seen in both the T1- and T2-weighted images, they were most evident in the latter. The four patients in the fourth stage who had only cutaneous lesions without neurologic problems did not reveal any MR abnormalities.
Conclusions:
This study demonstrates MR signal changes and focal atrophy of the cerebrum, cerebellum, and corpus callosum in patients with incontinentia pigmenti and neurologic disorders. The MR images appear normal in patients with incontinentia pigmenti who have no neurologic abnormalities.
Insights
Magnetic resonance imaging (MRI) revealed brain abnormalities in patients with incontinentia pigmenti and neurological disease. Those with only skin lesions showed normal MRI findings, indicating MRI
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Incontinentia pigmenti (IP) is a rare X-linked dominant disorder.
- IP affects the skin, central nervous system, eyes, and teeth.
- Neurological involvement in IP can lead to significant disability.
Purpose of the Study:
- To characterize magnetic resonance (MR) imaging findings in patients with incontinentia pigmenti.
- To correlate MR findings with the presence or absence of neurological disease in IP patients.
Main Methods:
- MR brain examinations were performed on eight female patients from two families with IP.
- Patients underwent physical examination, family history, and electroencephalogram.
- Follow-up MR scans were conducted in two cases with severe changes.
Main Results:
- Brain abnormalities were identified exclusively in four patients with both skin lesions and neurological disease.
- Observed abnormalities included cerebral hemisphere lesions contralateral to body's affected side, corpus callosum hypoplasia, and cerebellar hemisphere atrophy.
- MR imaging was normal in four patients with only cutaneous manifestations of IP.
Conclusions:
- MR imaging can detect significant brain changes in incontinentia pigmenti patients with neurological involvement.
- Focal cerebral, cerebellar, and corpus callosum atrophy are key MR findings in neurologically affected IP patients.
- Normal MR findings are associated with incontinentia pigmenti limited to cutaneous manifestations.