2012-SAP029 ERA-EDTACongress 16. Balligand JL, Pirson Y, Squifflet JP et al. Outcome of patients with tuberous sclerosis after renal transplantation. Transplantation 1990; 49: 515–518 17. van Slegtenhorst M, de Hoogt R, Hermans C et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997; 277: 805–808 18. European Chromosome 16 Tuberous Sclerosis Consortium. Iden...

The cerebellum plays an important role in motor learning and cognition, and structural cerebellar abnormalities have been associated with cognitive impairment. In tuberous sclerosis complex, neurologic outcome is highly variable, and no consistent imaging or pathologic determinant of cognition has been firmly established. The cerebellum calls for specific attention because mouse models of tuber...

BACKGROUND AND PURPOSE The neurologic significance of residual cerebral white matter tracts, identified on diffusion tensor tractography, has not been well studied in tuberous sclerosis complex. We aimed to correlate the quantity of reconstructed white matter tracts with the degree of neurologic impairment of subjects with the use of DTI and determined differences in white matter integrity betw...

Impairment of reciprocal social interaction is a core symptom of autism spectrum disorder. Genetic disorders frequently accompany autism spectrum disorder, such as tuberous sclerosis complex caused by haploinsufficiency of the TSC1 and TSC2 genes. Accumulating evidence implicates a relationship between autism spectrum disorder and signal transduction that involves tuberous sclerosis complex 1, ...

Tuberous sclerosis complex manifests predominantly as a neurocutaneous disorder Lung involvement was considered rare. Lymphangioleiomyomatosis which occurs mainly in women of childbearing age is the major pulmonary disorder seen in tuberous sclerosis. Multifocal micronodular pneumocyte hyperplasia has also been described in tuberous sclerosis. The case of a 51-year old female diagnosed with tub...

BACKGROUND Tuberous sclerosis complex is an autosomal dominant disorder predisposing to the development of benign lesions in different body organs, mainly in the brain, kidney, liver, skin, heart, and lung. Subependymal giant cell astrocytomas are characteristic brain tumors that occur in 10% to 20% of tuberous sclerosis complex patients and are almost exclusively related to tuberous sclerosis ...

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 is a complex neurological disorder with epilepsy, mental retardation, dermatological and neurological manifestations. Here we present a rare case where tuberous sclerosis presented as a case of obsessive compulsive disorder and the diagnosis of tuberous sclerosis was made on investigation and examination.

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...