BACKGROUND Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. The diverse and varied presentations and progression can be life-threatening with significant impact on cost and quality of life. Current surveillance and management practices are highly variable among region and country, reflective ...

Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 genes lead to disruption of the TSC1-TSC2 intracellular protein complex, causing overactivation of the mammalian target of rapamycin (mTOR) protein complex. The surveillance and management guidelines and clinical criteri...

Manuscript accepted for publication November 12, 2008. Abstract. Background. Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by the appearance of hamartomas in multiple organs. Diagnosis is based on clinical criteria. Objective. To report the clinical findings in a series of 67 patients with tuberous sclerosis. Material and methods. This was a descriptive and observation...

OBJECTIVE Tuberous sclerosis complex is expressed throughout the body, resulting in a range of clinical manifestations that can be challenging to manage. RESULTS The authors report a patient who presented at age 3.5 years with several suspected seizures and was diagnosed with tuberous sclerosis complex following the discovery of numerous bilateral cortical tubers and subependymal nodules on m...

A search for children presenting with signs or symptoms of cardiac rhabdomyomas was made through members of the paediatric section of the British Cardiac Society in order to establish their birth incidence, presenting features, clinical course, and the frequency of a concurrent diagnosis of tuberous sclerosis. Fifteen children were identified and 12 had tuberous sclerosis (80%). Heart failure w...

Background: To present a case of conjunctival lymphangioma in a 4-year-old girl with tuberous sclerosis complex. Methods/results: A 4-year-old girl presented with a relapsing cystic lesion of the bulbar conjunctiva in the right eye with string-of-pearl-like dilation of lymphatic vessels and right-sided facial swelling with mild pain. Best-corrected vision was not impaired. Examination of the sk...

BACKGROUND Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by the appearance of hamartomas in multiple organs. Diagnosis is based on clinical criteria. OBJECTIVE. To report the clinical findings in a series of 67 patients with tuberous sclerosis. MATERIAL AND METHODS This was a descriptive and observational retrospective study of patients with tuberous sclerosis referr...

The tuberous sclerosis complex genes TSC1 and TSC2 were first identified by positional cloning strategies in the heritable human disorder tuberous sclerosis. They encode previously unknown proteins, termed hamartin and tuberin respectively, that form a functional complex. The phenotypic manifestations of tuberous sclerosis are extremely diverse and suggest normal roles for TSC1 and TSC2 in regu...

Renal leiomyoma Tuberous sclerosis Abstract The renal lesions characteristic of tuberous sclerosis are angiomyolipoma and cysts, with the former considered to be more common. Other renal tumors are rarely associated with tuberous sclerosis. Here we present a tuberous sclerosis patient with a renal leiomyoma which was detected incidentally during the investigation of fever of unknown origin. Dr....