Fibroma/diagnostic imaging* ; Humans ; Odontogenic Tumors/diagnostic imaging* ; Tuberous Sclerosis/complications*

Adult ; Angiomyolipoma ; diagnosis ; genetics ; Exons ; genetics ; Humans ; Kidney Neoplasms ; diagnosis ; genetics ; Male ; Mutation ; genetics ; Tuberous Sclerosis ; complications ; Tuberous Sclerosis Complex 2 Protein ; genetics ; Young Adult

Consensus ; Epilepsy ; complications ; Humans ; Tuberous Sclerosis ; complications ; surgery

OBJECTIVETo study the clinicopathologic features of tuberous sclerosis complex (TSC).

METHODSThe clinicopathologic data of the patients diagnosed as TSC with refractory epilepsy and resection of epileptic focus were retrospectively analyzed.

RESULTSFourteen cases were included, the mean age was (15.8±12.9) years, with a male predominance (male to female ratio=10:4). Frontal lobe was the most common (13/14) site of involvement. MRI showed multiple patchy long T1 and long T2 signals. CT images showed multiple subependymal high density calcified nodules in nine cases. Histology showed mild to severe disruption of the cortical lamination, cortical and subcortical tubers with giant cells and/or dysmorphic neurons. The giant cells showed strong immunoreactivity for vimentin and nestin, while the dysmorphic neurons partially expressed MAP2 and NF. Vimentin also stained strongly the "reactive" astrocytes. Thirteen cases had follow-up information: Engel class I in six cases, Engel class II in six cases, and Engel class III in one case.

CONCLUSIONSDiagnosis of TSC relies on combined pathologic, clinical and neuroradiological features. Immunohistochemical staining can be helpful. Resection of epileptic focus is an effective method to treat refractory epilepsy in TSC.

Adolescent ; Astrocytes ; chemistry ; pathology ; Child ; Drug Resistant Epilepsy ; surgery ; Epilepsy ; complications ; metabolism ; pathology ; Epilepsy, Frontal Lobe ; complications ; metabolism ; pathology ; Female ; Giant Cells ; chemistry ; pathology ; Humans ; Magnetic Resonance Imaging ; Male ; Nestin ; analysis ; Neurons ; metabolism ; pathology ; Retrospective Studies ; Tuberous Sclerosis ; complications ; metabolism ; pathology ; Vimentin ; analysis

Angiomyolipoma ; diagnostic imaging ; etiology ; Brain ; diagnostic imaging ; Female ; Humans ; Kidney Neoplasms ; diagnostic imaging ; etiology ; Lung Neoplasms ; diagnostic imaging ; etiology ; Lymphangioleiomyomatosis ; diagnostic imaging ; etiology ; Magnetic Resonance Imaging ; Middle Aged ; Pedigree ; Tomography, X-Ray Computed ; Tuberous Sclerosis ; complications ; diagnostic imaging

OBJECTIVETo investigate the clinical features in children with tuberous sclerosis complex (TSC)-associated cardiac rhabdomyomas (CRM).

METHODSThe clinical data of 15 children with TSC complicated by CRM were collected. The clinical features of the patients were analyzed, and TSC gene mutations were detected.

RESULTSEleven cases (73%) developed multiple CRM. The majority of the tumors were located in the left and right ventricles. Most tumors presented as a round-like hyperechogenic mass with a clear margin on echocardiography. Arrhythmias occurred in 3 patients and 2 patients experienced heart failure. Gene mutation tests were performed in 2 patients, and pathogenic mutations were detected in both patients, which were TSC1 mutation and TSC2 mutation, respectively. Three patients were followed up for 6 to 38 months, and their CRM shrank or regressed spontaneously.

CONCLUSIONSTSC-associated CRM is generally multiple. Heart failure and arrhythmias may occur in some patients. Echocardiography is important for diagnosis of CRM. TSC-associated CRM has an inclination to spontaneous regression. TSC can be diagnosed at a molecular genetic level by TSC gene mutation detection.

Child, Preschool ; Female ; Heart Neoplasms ; complications ; genetics ; Hemodynamics ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Rhabdomyoma ; complications ; genetics ; Tuberous Sclerosis ; etiology ; Tumor Suppressor Proteins ; genetics

OBJECTIVETo evaluate the therapeutic effect and safety of rapamycin in treatment of children with tuberous sclerosis complex (TSC) complicated with epilepsy.

METHODThis was an open-label, prospective, self-controlled study. From Sep. 2011 to Sep. 2013, 52 patients with the diagnosis of tuberous sclerosis complicated with epilepsy receiving rapamycin treatment for at least 24 weeks were enrolled.

RESULTOf the 52 children, 34 were male and 18 female. The median age at onset of epilepsy was 4.8 months (4 days-49 months), the median age for treatment with rapamycin was 27 months (4.5-172.5 months). Ten children had a family history of TSC. In 24 children TSC gene detection was carried out, among whom TSC1 mutation was detected in 4 cases and TSC2 mutation in 20. Before rapamycin therapy, 59.62%, (31/52) patients took more than 3 antiepileptic drugs, of whom 10 cases even took more than 5 kinds of antiepileptic drugs. Fifty-two patients received rapamycin treatment for 24 weeks, seizure free rate was 25.00% (13 cases), the total effective rate was 73.08% (38 cases); 31 cases received treatment for 48 weeks, seizure free 6 cases, total effective 23 cases; 17 cases accepted treatment for 72 weeks, seizure free 5 cases, total effective 13 cases; 12 cases received treatment for 96 weeks, seizure free 3 cases, total effective 9 cases. With the decrease of seizure attacks, use of antiepileptic drug types were reduced simultaneously, they had a negative correlation. Before rapamycin therapy, the average frequency of seizures was 70.27 times/d, the number of antiepileptic drug kinds was 1.30. After 24, 48, 72, 96 weeks' treatment, the average seizure frequency was reduced to 1.94-2.80 times /d and the antiepileptic drugs were reduced to 0.83-0.97 kinds. On every visit during the follow-up, blood and urine routine tests, liver and kidney function test showed no abnormality in the 52 cases. The drug dosage was 1 mg/(m(2)×d), average 0.7 mg/d (0.35-1.20 mg/d). Blood concentrations of rapamycin remained below 10 µg/L (average 6.5 µg/L). The main side effect was oral ulcer which happened in 23.08% (12/52). The oral ulcer would disappeared 2-3 days later. 17.31% (9/52 cases) had upper respiratory infection.

CONCLUSIONRapamycin was effective in children with tuberous sclerosis and epilepsy with few adverse reactions. The daily dose of rapamycin for children patients is 1 mg/m(2), which has a certain effect on seizures and a good safety profile.

Adolescent ; Anticonvulsants ; adverse effects ; therapeutic use ; Child ; Child, Preschool ; Epilepsy ; complications ; drug therapy ; Female ; Humans ; Infant ; Male ; Prospective Studies ; Seizures ; prevention & control ; Sirolimus ; adverse effects ; therapeutic use ; Treatment Outcome ; Tuberous Sclerosis ; complications ; genetics

OBJECTIVETo analyze the relationship between the ictal onset zone and dominant interictal epileptiform foci in tuberous sclerosis complex (TSC) patients.

METHODClinical data of 20 patients with TSC which had epileptic seizures during Video-EEG monitoring was assessed. Consistency and dominance of focal interictal epileptiform activity and the ictal onset zone were identified. Concordance between interictal and ictal findings was analyzed.

RESULTOf the 20 patients, 7 were female, and 13 were male. The age of epilepsy onset was from 15 d to 6 years. The Video-EEG monitoring age was from 6 months to 11 years. Family history was found in three cases. Abnormality in neuroimaging existed in 17 of 18 patients who were examined. Interictal EEG showed hypsarrhythmia in 3 patients, multifocal epileptiform activity with a dominant focus in 12 patients, both focal and generalized discharges in 2 patients, and only focal discharges in 3 patients. The seizures types during EEG monitoring included epileptic spasms, partial seizure, atypical absence, and generalized or focal myoclonic seizure. The most common seizure type was partial seizure and then epileptic spasms. EEG in 4 patients with epileptic spasms showed ictal generalized discharges and interictal hypsarrhythmia or generalized discharges. Clinical manifestation of epileptic spasms was asymmetric in 3 patients. Lateralization and location of interictal and ictal discharges were consistent in 2 of the 3 patients, while only lateralization consistency in 1 of the 3 patients. Partial seizures as the only seizure type were monitored in 13 patients. Of the 13 patients, lateralization and location of interictal and ictal discharges were inconsistent in 2 patients (15%), consistent in 8 patients (62%), lateralization or location consistent in 2 patients (15%). One case could not be analyzed because of uncertainty of lateralization and location of seizure onset.

CONCLUSIONIn the majority of patients with TSC, multifocal interictal epileptiform activity is present, in which a most dominance of focal epileptiform activity could be found. For some epileptic seizures or the majority of partial seizures, the ictal onset zone is concordant with the dominance of focal interictal epileptiform foci. The concordance might have positioning reference significance for preoperative evaluation of epilepsy surgery.

Brain ; pathology ; physiopathology ; Brain Mapping ; methods ; Cerebral Cortex ; pathology ; physiopathology ; Child ; Child, Preschool ; Electroencephalography ; statistics & numerical data ; Epilepsies, Partial ; diagnosis ; etiology ; physiopathology ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Predictive Value of Tests ; Retrospective Studies ; Seizures ; diagnosis ; etiology ; physiopathology ; Tuberous Sclerosis ; complications ; diagnosis ; physiopathology

Adolescent ; Arrhythmias, Cardiac ; etiology ; Child ; Child, Preschool ; Echocardiography ; Heart Neoplasms ; diagnosis ; epidemiology ; etiology ; physiopathology ; Humans ; Incidence ; Infant ; Infant, Newborn ; Rhabdomyoma ; diagnosis ; epidemiology ; etiology ; physiopathology ; Risk Factors ; Tuberous Sclerosis ; complications ; diagnosis ; epidemiology

Epilepsy ; etiology ; Female ; Humans ; Infant ; Tuberous Sclerosis ; complications ; diagnosis ; genetics