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

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

Adult ; Female ; Hemangioma ; complications ; Humans ; Kidney Neoplasms ; complications ; Lipoma ; complications ; Lung Diseases ; complications ; diagnosis ; Tuberous Sclerosis ; complications ; diagnosis

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

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

Astrocytoma ; pathology ; Female ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Tomography, X-Ray Computed ; Tuberous Sclerosis ; complications ; diagnostic imaging ; pathology

Brain ; pathology ; Humans ; Infant, Newborn ; Lung ; pathology ; Male ; Seizures ; etiology ; pathology ; Tomography, X-Ray Computed ; Tuberous Sclerosis ; complications ; pathology

Polycystic kidney disease is a relatively uncommon finding of tuberous sclerosis. Furthermore, the renal insufficiency by the severe polycystic kidney disease is extremely rare in tuberous sclerosis. The patient was a 27-year-old man, complaining of generalized seizure and progressive abdominal distension. His clinical features were chracterized by epilepsy, mental retardation, skin abnormalities including adenoma sebaceum, shagreen patch and ash-leaf spots. Abdominal computed tomography demonstrated numerous variable sized cysts throughout both kidneys. Clinical and laboratory findings revealed chronic renal failure due to severe polycystic kidneys. On reviewing the literature, the present case is the first report of polycystic kidneys associated with tuberous sclerosis in Korea.
Adult ; Brain/pathology ; Human ; Magnetic Resonance Imaging ; Male ; Polycystic Kidney Diseases/*complications/pathology/physiopathology/ultrasonography ; Tomography, X-Ray Computed ; Tuberous Sclerosis/*complications/pathology/physiopathology/ultrasonography

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 investigate the treatment outcome and risk factors for intractable seizures in children with tuberous sclerosis complex(TSC)complicated by epilepsy.

METHODSThe medical data of 66 cases of TSC were retrospectively studied.

RESULTSOf the 66 children with TSC, 47 cases were available for follow-up. The follow-up period ranged from 7 months to 9.3 years (average 4.5 + or - 2.6 years). The patients' present average age was (7.7 + or - 4.1) years (median 8 years). Among the 47 cases, 19 (40%) had infantile spasms, 24 (51%) had tonic seizures, 15 (32%) had partial seizures, and 3 (6%) had tonic-clonic seizures, and additionally, multifocal seizures, atonic seizures, atypical absence seizures and hypomotor seizures each appeared in 1 case (2%) respectively. The average number of antiepileptic drugs used was 1.9 + or - 0.86 (median 1). Among the 47 patients, 12 (26%) still had epileptic seizures and 33 (70%)were seizure-free, and 4% were dead. Three cases underwent surgery and continued to receive medication after surgery. The three patients were seizure-free in a 1.5 years follow-up. Among the 30 children over 7 years old, 17 cases (57%) were enrolled in ordinary schools, 3 cases (10%) in special schools and the other 10 cases were off-school for disabilities of intelligence and speech. The non-conditional logistic regression showed that the age of onset (RR=1.8, 95% CI 1.0- 3.2, P=0.050), administration of multiple antiepileptic drugs (RR=4.8, 95% CI 1.2-18.6, P=0.024), tonic seizures (RR=0.003, 95% CI 0.0- 0.2, P=0.04) and sex (RR=0.016, 95% CI 0.0-0.5, P=0.017) were risk factors for intractable seizures.

CONCLUSIONSThe majority (70%) of children with TSC complicated by epilepsy can be seizure-free with suitable treatment. The risk factors of poor outcome in seizure control may involve in the early onset age, tonic seizures and the administration for multiple anti-epileptic drugs.

Adolescent ; Child ; Epilepsy ; etiology ; surgery ; Female ; Follow-Up Studies ; Humans ; Logistic Models ; Male ; Recurrence ; Retrospective Studies ; Risk Factors ; Tuberous Sclerosis ; complications