Commentary Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ system, especially the brain, retina, heart, skin, kidney, lung, and liver. Neurological manifestations are responsible for most disability , and include cognitive impairment and subependymal giant cell astrocytomas (SEGAs), but epilepsy is the most common problem, occurring in...

Tuberous sclerosis complex (TSC) is a neurogenetic disorder that often causes brain abnormalities leading to epilepsy, developmental delay, and autism. TSC is caused by inactivating mutations in either of the genes encoding the proteins hamartin (TSC1) and tuberin (TSC2). These proteins form a heterodimer that inhibits the mammalian target of rapamycin complex 1 (mTORC1) pathway, controlling tr...

Lymphangioleiomyomatosis (LAM) is a rare (orphan) lung disease, in which the lung parenchyma is progressively replaced by cysts associated with a proliferation of immature smooth muscle cells and perivascular epithelioid cells (so-called LAM cells) around lymphatic vessels [1, 2]. LAM can be sporadic, almost exclusively affecting females, or can be associated with tuberous sclerosis complex (TS...

Self-injurious behavior (SIB) has been observed in people with tuberous sclerosis complex (TSC), although the frequency of SIB in TSC is largely unknown. SIB is associated with intellectual and developmental disabilities, but there is no single cause of SIB. We retrospectively examined the frequency of SIB in a population of 257 patients with TSC and determined possible associations with SIB. W...

A 43-year-old woman with mental retardation, epilepsy, and urinary stone disease had a right renal tumor. Acne-like anthema around the nose and dental pits of the nine teeth were typical signs of tuberous sclerosis (TSC), and the biopsy finding of the facial anthema was consistant with TSC. The pathological diagnosis of laparoscopic nephrectomy was renal cell carcinoma in the hemorrhagic cyst. ...

OBJECTIVE Tuberous sclerosis complex is an autosomal dominant neurocutaneous disease that presents with dermatological, neurological, cardiac, renal and ocular symptoms. We described the variable clinical manifestations, neuroimaging findings, Age and sex distribution of tuberous sclerosis in a group of 81 patients referred to our clinic. MATERIALS & METHODS Based on the diagnostic criteria, ...

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by the development of multiple hamartomas in many organs and tissues. It occurs due to inactivating mutations in either of the two genes, TSC1 and TSC2, following a second hit in a tumor suppressor gene in most hamartomas. Comprehensive screening for mutations in both the TSC1 and TSC2 loci has been per...

cardiac rhabdomyomas are the most common primary cardiac tumors in children. these tumors are generally asymptomatic, although they may be associated with neonatal tuberous sclerosis complex. despite the fact that thyroid dysfunction rarely occurs in tuberous sclerosis, papillary adenomas (hamartomas) of the thyroid gland have been reported in a number of autopsies. herein, we present the case ...

The Eker rat is a model for human tuberous sclerosis (TSC) caused by a mutation in the Tsc2 gene. We describe here histological and immunohistochemical findings of the brain lesions in Eker rats, with emphasis on 2 novel lesions found in this study: a cortical tuber and an anaplastic ganglioglioma. The rat cortical tuber resembled those of humans, and further confirmed the value of this animal ...

Multiple cardiac rhabdomyomas are frequently associated with tuberous sclerosis (TSC). However, splenic involvement in TSC is very rare. Histiocytoid cells in the spleen have been previously reported in only seven neonates and one fetus. We report an unusual case of multiple cardiac rhabdomyomas in a stillborn fetus with TSC who had clusters of histiocytoid cells in the spleen. These large cell...