Abstracts

Rationale: Linear nevus sebaceous syndrome, also known as Schimmelpenning-Feufstein-Mims syndrome, is a rare neurocutaneous disorder characterized by the triad of epidermal nevi, seizures and mental retardation. Other neurologic, ophthalmologic, skeletal, cardiovascular and urologic abnormalities can also occur. Linear nevus sebaceous syndrome is usually diagnosed during childhood and most patients have cognitive impairment. Multiple epileptic syndromes have been reported, with variable response to antiepileptic treatment. We report a patient with linear nevus sebaceous syndrome who was first diagnosed during adulthood and has preserved cognitive function. She has pharmacoresistant focal epilepsy in the setting of hemimegalencephaly. Methods: Case Report Results: A young woman without family history of epilepsy developed generalized tonic-clonic seizures when she was 2 years old that were controlled with phenytoin by age 4. She developed normally and remained seizure-free during childhood. At the age of 13, she was taken off phenytoin. She went on to graduate high school. At the age of 21, she presented to the adult epilepsy clinic with recurrence of simple partial and generalized tonic-clonic seizure. On examination, she had linear skin lesions on her right forehead, the right side of her nose, and right torso. Her skull showed prominence of the right frontal region and thinning in the right parieto-occipital region. Mental status examination was normal, but there was mild left hemiparesis and frequent myoclonic jerks of the left upper extremity at rest and on sustained posture. EEG showed slowing and frequent spikes over the right hemisphere. MRI brain revealed right hemimegalencephaly with pachygyria, while the left cerebral hemisphere was normal. Dermatological evaluation and skin biopsy suggested nevus sebaceous. Ophthalmological evaluation was normal. She was treated with multiple antiepileptic drugs, but her seizures persisted. Conclusions: Linear nevus sebaceous syndrome should be considered even in adults presenting with linear skin lesions and seizures. Patients may not have the classical triad and cognitive function can be normal. EEG, brain MRI as well as a systematic multi-organ examination should be performed. In patients with pharmacoresistant focal epilepsy and hemimegalencephaly, non-pharmacological treatments such as epilepsy surgery or neurostimulation could be considered. Funding: None