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Spinal cord involvement in encephalocraniocutaneous lipomatosis
I Alfonso1, P F Lopez, R F Cullen
1Department of Neonatal Neurology, Hialeah Hospital, Florida.
Pediatric Neurology
|November 1, 1986
Summary
Encephalocraniocutaneous lipomatosis is a rare congenital disorder affecting the brain and skin. Early spinal cord evaluation in newborns is crucial for identifying associated lipomatosis.
Area of Science:
- Medical Genetics
- Neurology
- Dermatology
Background:
- Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital disorder characterized by hamartomas affecting the craniofacial region and central nervous system.
- Clinical manifestations include alopecia, craniofacial masses, lipomas, connective tissue nevi, ocular abnormalities, intellectual disability, motor deficits, and seizures.
Observation:
- Previous reports documented spinal cord evaluations in 3 of 8 patients with ECCL.
- Two of these patients exhibited evidence of spinal cord lipomatosis.
Findings:
- This report details the third patient diagnosed with encephalocraniocutaneous lipomatosis and associated spinal cord lipomatosis.
- A comprehensive review of existing literature on ECCL and its spinal manifestations is presented.
Implications:
- The findings underscore the critical importance of spinal cord evaluation in newborns diagnosed with encephalocraniocutaneous lipomatosis.
- Early detection of spinal cord involvement can guide management and improve patient outcomes.