Difficulty of transition to adult care in a patient with tuberous sclerosis: a case report

Abstract

We report on a tuberous sclerosis (TSC) patient with intractable epilepsy and chronic renal failure. In spite of having the characteristic features of TSC (cutaneous manifestations, multiple cystic lesions in the kidneys, and intractable epilepsy with a history of brain surgery), he had been over-looked for a long period of time in an inpatient facility for handicapped persons. He was under management by several physicians, including neurologists for adult patients, without a well-organized transition plan or efficient support from pediatric neurologists. Genetic testing revealed that the patient had a novel causative gene anomaly on the TSC1 gene. Before receiving adequate treatment for epilepsy, he had had daily tonic seizures and focal seizures. After prescription of levetiracetam (LEV) by a child neurologist/epileptologist, his seizures were reduced dramatically. He also had episodes of eating difficulty, which were diagnosed as non-convulsive status epilepticus by EEG monitoring. With the use of LEV infusion and an increase in daily dose of LEV, these episodes also disappeared. TSC is a multisystemic disease and presents various challenges to physicians due to its wide phenotypic variability. Careful transition of a TSC patient from the care of a child neurologist to the care of a general medical practitioner in an adult setting is a critical issue. This case is an important example showing the difficulty of transition to adulthood in a patient with TSC and epilepsy.