Causative gene mutations for types 1 and 3 have not been identified. The mTOR pathway regulates a number of functions in the brain including establishment of cell size, cell motility, and differentiation. Gene mutations associated with FCD2a and FCD 2b include MTOR, PI3KCA, AKT3, and DEPDC5. Mutations in these genes lead to enhanced mTOR pathway signaling at critical periods in brain development. Some recent evidence may suggest a role for in utero infection with certain viruses such as cytomegalovirus and human papilloma virus.Seizures in FCD are likely caused by abnormal circuitry induced by the presence of DNs and BCs. These abnormal cell types generate abnormal electrical signals which spread out to affect other parts of the cerebral cortex. Medication is used to treat the seizures that may arise due to cortical dysplasia. Epilepsy surgery to remove areas of FCD is a viable treatment option for appropriate candidates. Treatment
No specific treatment is required for cortical dysplasia, and all treatment is aimed at the resulting symptoms (typically seizures). When a cortical dysplasia is a cause of epilepsy, then seizure medications (anticonvulsants) are a first line treatment. If anticonvulsants fail to control seizure activity, neurosurgery may be an option to remove or disconnect the abnormal cells from the rest of the brain (depending on where the cortical dysplasia is located and the safety of the surgery relative to continued seizures).
Notable persons
John Belluso, writer for the CBS television show Ghost Whisperer, used a wheel chair from the age of 13 because of the Camurati–Engelmann syndrome. He died on February 10, 2006, at the age of 36 in New York City. References
Further reading
Camurati-Engelmann disease on Genetic Home Reference
GeneReviews/NCBI/NIH/UW entry on Camurati-Engelmann Disease
Wallace, Stephanie E.; Wilcox, William R. (1 January 1993). Camurati-Engelmann Disease. GeneReviews. University of Washington, Seattle. PMID 20301335. == External links ==