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Epidermal nevus syndrome: subgroup with neuronal migration defects
H el-Shanti1, W E Bell, M H Waziri
1Department of Pediatrics, University of Iowa College of Medicine, Iowa City.
Journal of Child Neurology
|January 1, 1992
Summary
Epidermal nevus syndrome, a congenital hamartosis, frequently involves neurological issues like seizures. Magnetic resonance imaging is superior for diagnosing central nervous system anomalies in these cases.
Area of Science:
- Medical Genetics
- Neurology
- Dermatology
Background:
- Epidermal nevus syndrome (ENS) is a rare congenital hamartosis with reported neurological abnormalities.
- Neurologic involvement in ENS can be severe, including seizures, mental retardation, and facial hemihypertrophy.
Observation:
- Two cases of ENS with severe brain involvement, seizures, mental retardation, and facial hemihypertrophy are presented.
- Magnetic resonance imaging (MRI) is highlighted as superior to other radiographic studies for visualizing central nervous system anomalies in ENS.
Findings:
- ENS is considered a single entity, despite attempts to classify variants.
- ENS shares phenotypic features with Proteus syndrome and encephalocraniocutaneous lipomatosis, suggesting a phenotypic continuum.
Implications:
- The findings suggest a common pathogenetic process for ENS, Proteus syndrome, and encephalocraniocutaneous lipomatosis.
- A somatic mutation leading to mosaicism is the likely cause of these related syndromes.
- Early and accurate diagnosis of ENS-related CNS anomalies is crucial for patient management.