A 23-year-old New Zealand Māori male with tuberous sclerosis (TSC) and associated neurocognitive abnormalities presented with altered behavior and increasing seizure frequency. Endogenous hyperinsulinemia from an underlying insulinoma was confirmed and this was managed surgically. This case represents only the sixth description of insulinoma in TSC to date. The role of the hamartin-tuberin comp...

Multifocal Micronodular Pneumocyte Hyperplasia (MMPH) is a rare and histologically, distinctive pulmonary manifestation of tuberous sclerosis complex (TSC) characterized by numerous and extensive proliferative lesions of type II pneumocytes similar to atypical adenomatous hyperplasia (AAH) or non-mucinous adenocarcinoma in situ (AIS). We reported MMPH in a 38-year-old Chinese man with TSC masqu...

Tuberous Sclerosis Complex (TSC) was first described in the late 1800s as a relative of neurofibromatosis, but it has since been identified as a discrete disorder. Patients with TSC typically present with facial adenomas, seizure disorder, and a developmental disability. The syndrome is caused by mutations in either chromosomes 9 or 16, both of which code for cell development and maturation. Th...

Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic syndrome. The hallmark of the disease is multiple hamartomatous lesions in multiple organ systems. Common cardiac manifestations of TSC are rhabdomyomas, which are a benign tumor of striated muscle. In some patients with TSC, myocardial fatty foci (MFF) deposition has been described with or without the presence of rhabdomyoma...

Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system. Tuberous sclerosis is caused by the mutation of one of two tumor suppressor genes, TSC1 or TSC2. Currently, the development of novel techniques and great advances in high-throughput genetic analysis made mut...

Tuberous sclerosis or Tuberous sclerosis complex (TSC) is a relatively rare autosomal dominant and progressive neurocutaneous disorder involves multiple organs mainly brain, heart, kidney, lung, liver, skin and eye. The diagnosis is typically made clinically. Here, we are reporting a case of TSC presented mainly with dermatologic findings and only neurologic manifestations on MRI. A 15-year-old...

PURPOSE To analyze the prognostic factors for mental retardation in patients with tuberous sclerosis complex (TSC). METHODS We retrospectively reviewed 35 in-patients with TSC in a medical center and analyzed the clinical features. 19 of 32 patients (59.4%) fulfilled the classical diagnosis of tuberous sclerosis. According to the diagnostic criteria of Roach et al., 30 patients had definite T...

This non-interventional post-authorisation safety study (PASS) assessed the long-term of everolimus in patients with tuberous sclerosis complex (TSC) who participated TuberOus SClerosis registry to increase disease Awareness (TOSCA) clinical and received for licensed indications European Union. The rate adverse events (AEs), AEs that led dose adjustments or treatment discontinuation, potential ...

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterised by the development of multiple hamartomas in numerous organs. It is caused by mutations of two tumour suppressor genes, TSC1 on chromosome 9q34 and TSC2 on chromosome 16p13.3, which encode for hamartin and tuberin respectively. The interaction between these two proteins, the tuberin-hamartin complex, ha...