Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex.

Purpose: The aim of the study was to reveal the relationships between the tuber count of the brain found in patients with tuberous sclerosis complex (TSC) and their cognitive outcome.

Methods: A single-center, retrospective analysis was performed of patients with documented TSC seen from 1988 to 2010 at the Children's Memorial Health Institute, Warsaw, Poland.

Key Findings: Sixty-two patients were analyzed, and there was a significant correlation between younger age at the first seizure and developmental delay.

Successful antiepileptic drug withdrawal in infants with epilepsy and cytomegalovirus neuroinfection: longitudinal study.

Purpose: A prospective study estimating antiepileptic and antiviral regimens administered to infants with symptomatic epilepsy and human cytomegalovirus (HCMV) neuroinfection followed for at least 4 years.

Methods: Thirty-two infants (19 female, 13 male) with epileptic seizures and HCMV neuroinfection diagnosed during the first year of life. Detection of HCMV DNA by qualitative polymerase chain reaction (PCR) method in cerebrospinal fluid (CSF), blood leukocytes, and urine confirmed the diagnosis.

Infantile spasms and cytomegalovirus infection: antiviral and antiepileptic treatment.

From 1 January 1995 to 31 December 2004, 22 patients (13 males, nine females; age range 2-12mo) with infantile spasms and cytomegalovirus (CMV) infection were treated with intravenous ganciclovir (GCV) and antiepileptic drugs. GCV was given for 3 to 12 weeks with a 1-month interval (one, two, or three courses). Epileptic spasms occurred before (group A: eight patients), simultaneously (group B: eight patients), and after (group C: six patients) a diagnosis of human CMV (HCMV) infection and antiviral treatment.

Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex.

Objective: Tuberous sclerosis complex is an autosomal dominant disorder in which hamartomas occur in several organs. Cardiac rhabdomyomas, the most common heart tumors of childhood, are well known to be associated with tuberous sclerosis complex. Our aim for this study was to characterize the incidence, progression, and clinical consequences of tuberous sclerosis complex-associated rhabdomyomas in a large cohort of patients with TSC1 and TSC2 genotypes.

Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation.

Background: Tuberous sclerosis complex (TSC) is an autosomal, dominantly inherited neurocutaneous syndrome characterized by a wide range of neurological abnormalities, tumors of different organs, and variable clinical symtomatology and severity. TSC is caused by mutations in either of two tumor suppressor genes: TSC1 or TSC2. The aim of this study was to analyze the clinical picture of TSC in patients with an identical TSC2 mutation.