Humans ; Pedigree ; Tuberous Sclerosis ; pathology

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with tuberous sclerosis complex (TSC). METHODS: The TSC1 and TSC2 genes were sequenced. Candidate variant was verified by Sanger sequencing of the proband and her family members. Pathogenicity of the variant was predicted based on the American College of Medical Genetics and Genomics (ACMG) guidelines. RESULTS: The proband was found to harbor a heterozygous c.52delC frameshift variant of the TSC2 gene, which may result in synthesis of amino acid chain starting from the 18th amino acid Leu and terminating at the 28th amino acid (p.Leu18CysfsTer28). The variant was unreported in the public database. Mutation Taster software predicted that the variant is harmful. Both parents of the proband were of the wild type, suggesting that the variant has occurred de novo. Based on the ACMG guidelines, the variant was predicted to be likely pathogenic (PVS1 +PM2). CONCLUSION A novel pathogenic variant of the TSC2 gene c.52delC (p.Leu18CysfsTer28) was identified, which has enriched the mutational spectrum of TSC2 and provided a basis for genetic counseling for this pedigree.
Humans ; Female ; Tuberous Sclerosis/pathology* ; Tuberous Sclerosis Complex 2 Protein/genetics* ; Pedigree ; Mutation ; Amino Acids/genetics* ; China

Autopsy ; Fetus ; Heart Neoplasms ; pathology ; Humans ; Rhabdomyoma ; pathology ; Tuberous Sclerosis ; pathology

Child ; Epilepsy ; pathology ; surgery ; Humans ; Male ; Treatment Outcome ; Tuberous Sclerosis ; pathology ; surgery

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

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

Cardiac rhabdomyoma is a rare type of benign tumor affecting the heart. There are a few previous reports of intracardiac rhabdomyomas causing ventricular arrythmia. We describe a 1-year-old female tuberous sclerosis patient who was presented with a ventricular tachycardia. Diagnostic echocardiography revealed two masses in the left ventricular outflow tract originating from the ventricular septum. The masses were surgically resected through aortotomy using cardiopulmonary bypass and the masses appeared benign. The pathology was that of a cardiac rhabdomyomas. Postoperative course was uneventful and the ventricular tachycardia was controlled.
Arrhythmias, Cardiac ; Cardiopulmonary Bypass ; Echocardiography ; Female ; Heart ; Heart Neoplasms ; Humans ; Pathology ; Rhabdomyoma ; Tachycardia, Ventricular ; Tuberous Sclerosis* ; Ventricular Septum

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

BACKGROUNDTuberous sclerosis (TS) is an autosomal dominant disorder with a significant range of clinical expressions. The involvement of vital organs, such as the brain, kidney, heart and lung is the main cause of death in patients with TS. The aim of this study is to summarize the characteristic cutaneous features and common extracutaneous involvement of TS, which are helpful to the early detection of visceral involvement.

METHODSThe analyzed clinical data from 78 patients with TS included those from detailed history, physical and dermatological examination, cranial computed tomography (CT) and magnetic resonance imaging (MRI), abdominal ultrasonography, chest roentgenography, hand and foot X-ray and ophthalmologic examination.

RESULTSThe skin, brain and kidney were involved frequently in TS patients. Hypomelanotic macules were the most common and earliest cutaneous lesions. Their number was more than 3 in 81.5% of the patients. They were followed by facial angiofibromas and Shangreen's patch in a decreasing frequency. Forehead plaque, facial angiofibromas and Shagreen's patch appeared in patients at mean age of 2.6, 6.0 and 8.1 years respectively. Cranial CT showed a high positive rate in TS patients.

CONCLUSIONSCutaneous features of TS are helpful in the early diagnosis of the disease. Hypomelanotic macules are especially important for patients with epilepsy or babies whose number of hypomelanotic macules is more than 3. Cranial CT is of great value in the diagnosis of TS. The involvement of visceral organs such as the brain and kidney should be examined in TS patients.

Adolescent ; Adult ; Angiomyolipoma ; etiology ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Kidney Neoplasms ; etiology ; Male ; Radiography ; Skin ; pathology ; Tuberous Sclerosis ; complications ; diagnostic imaging ; pathology

Brain Diseases ; diagnosis ; Child, Preschool ; Epilepsy ; diagnosis ; Female ; Fever ; Humans ; Infant ; Male ; Skin ; pathology ; Tomography, X-Ray Computed ; Tuberous Sclerosis ; diagnosis