ABSTRACT
The Symptom Checklist-90-Revised, a standardized self-report measure of psychological symptoms, was administered to 42 adults with tuberous sclerosis complex (TSC). Approximately 45% reported high overall psychological distress, most commonly involving interpersonal sensitivity, psychoticism, depression, and obsessive-compulsive symptoms. Symptoms were related to number of organ systems affected by TSC and, in some cases, to seizure history, but not to genotype, IQ, education, severity of epilepsy, or use of anticonvulsant or psychiatric medication.
Subject(s)
Mental Disorders/psychology , Psychological Tests/statistics & numerical data , Tuberous Sclerosis/psychology , Adult , Analysis of Variance , Female , Humans , Intelligence , Intelligence Tests/statistics & numerical data , Male , Mental Disorders/etiology , Middle Aged , Retrospective Studies , Tuberous Sclerosis/complicationsABSTRACT
To assess cognitive outcome in patients with tuberous sclerosis complex (TSC) and identify predictive risk factors, we reviewed records of 107 patients who underwent comprehensive neuropsychiatric evaluation. Fifty-seven percent of patients with TSC had normal-range IQ/developmental quotient (DQ). Cognitive outcome was strongly associated with refractory seizures and TSC2 mutation. In TSC, IQ/DQ is bimodally distributed, and more than half of individuals are in the normal range.
Subject(s)
Cognition Disorders/diagnosis , Tuberous Sclerosis/diagnosis , Adolescent , Adult , Child , Child, Preschool , Cognition Disorders/complications , Cognition Disorders/genetics , Female , Humans , Infant , Infant, Newborn , Male , Middle Aged , Mutation , Prognosis , Retrospective Studies , Tuberous Sclerosis/complications , Tuberous Sclerosis/geneticsABSTRACT
A 5-year-old boy with a known diagnosis of tuberous sclerosis complex was found to have an enlarging renal mass on routine ultrasound. He was diagnosed with an angiomyolipoma (AML) and scheduled for close observation. Follow-up magnetic resonance imaging demonstrated the AML to be significantly enlarged and hypervascular. Selective arterial embolization of the tumor was performed, which resulted in an appropriate decrease in tumor size. Angiomyolipoma is a known and well-described complication of the tuberous sclerosis complex that is usually found among patients in their adolescent and adult years. The case presented here illustrates the need for early and repeated renal imaging of younger pediatric patients with tuberous sclerosis. Our experience adds to the literature on young pediatric patients requiring embolization for treatment of large renal angiomyolipomas.
