Abstracts

Rationale: Background: Particular neurocutaneous disorders are associated with increased risk for epilepsy or specific epileptic syndromes. These include tuberous sclerosis, neurofibromatosis, Sturge-Weber syndrome and other neurocutaneous disorders of varying prevalence. Some of these disorders are associated with specific seizure types such as epileptic spasms. Epileptic spasms occurs in 68% of all tuberous sclerosis patients presenting with seizures in infancy. More rare neurocutaneous disorders, such as encephalocraniocutaneous lipomatosis (ECCL), have been reported to be associated with increased risk for seizures, in 54 reported cases 30 of those reviewed had information regarding seizure activity with 27 reported as having history of seizures and 3 with no history of seizures. The remaining 24 did not provide information regarding possible seizures. There have been no reported cases of epileptic spasms and ECCL. ECCL is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and CNS anomalies. ECCL is diagnosed based on the revised diagnostic criteria which involve major and minor criteria. A definite case requires involvement of three systems with 2 major criteria. See Table A.Methods: Patient Description: This 9 month-old-boy was born at 39 weeks gestation after a normal pregnancy. Following delivery he was noted to have an eyelid coloboma with conjunctival lesions and corneal vascularization. He was also noted to have four 5-11mm bulla/papules on his scalp with a linear distribution on the vertex of the scalp, primarily on the left vertex and left parietal scalp. This was initially diagnosed as bullous aplasia cutis of the scalp. At 5 months of age he began having events consistent in description with flexor spasms. They were captured during a video EEG monitoring study and confirmed to be epileptic spasms. He was started on vigabatrin where he became spasm free at 125mg/kg/day dosing.Results: Evaluation demonstrated normal metabolic function and normal male chromosomes. A variant of unknown clinical significance was identified on his microarray as well as several noted on epilepsy panel. See Table B. Brain and Spine MRI revealed large cerebral subdural and subarachnoid spaces, and enlarged thalamus and a lipoma extending from C6-T1. Following his evaluation and diagnosis of epileptic spasms he was seen in genetics. The ECCL criteria was applied and determined to be a definite case of ECCL.Conclusions: Conclusion: Patients presenting with skin lesions and seizures should be evaluated for possible neurocutaneous disorders. With careful evaluation these children may receive more accurate diagnosis to help guide their treatment and prognosis.