Table of Contents
Washington University Experience | DEVELOPMENTAL MALFORMATIONS | Tuberous Sclerosis | 15A0 Case 16 History - Copy
Case 15 History ---- This patient, 19 months of age at surgery, was prenatally diagnosed with cerebellar dysgenesis on ultrasound and MRI. After delivery, he was admitted to the NICU for further workup. Echocardiogram showed cardiac rhabdomyomas and brain MRI showed multiple cortical tubers. He was also found to have a left cataract and left retinal detachment. Given these findings, he met criteria for the diagnosis of tuberous sclerosis. Subsequent TSC genetic testing found a pathogenic TSC2 mutation. He started having spells of abnormal behavior around 3-4 weeks of age. Semiology (i.e., the study of symptoms, somatic and laboratory signs, history taking and physical examination) is described as head and eyes turned to the left and arms became rigid (one arm flexed, one extended) during a seizure lasting less than 50 seconds. These were occurring up to 22 times a day. He was admitted to the neurology service in January 2023 for these spells. A routine EEG obtained in February 2023 revealed two left frontal electrographic seizures. Vigabatrin was initiated and the above episodes decreased significantly. Eventually he developed intractable epilepsy/status epilepticus in the context of a history of tuberous sclerosis. Operative procedure: Resection of the left frontal tuber, the major seizure focus.
