Article type: Case Report 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. He...

Cardiac rhabdomyomas are benign cardiac tumours and are often associated with tuberous sclerosis. They are often asymptomatic with spontaneus regresion but can cause heart failure, arrhythmias, and obstruction. There have also been a few isolated reports of Wolff-Parkinson-White syndrome occurring in association with tuberous sclerosis and the great majority has been detected in patients with c...

Astrocytic hamartomas of the retina are the principal ocular manifestation of tuberous sclerosis complex. Iris abnormalities are rare in tuberous sclerosis complex and include focal areas of stromal depigmentation and atypical colobomata. We describe 2 patients who were found on histopathological examination to have lesions consistent with hamartomas of the iris pigment epithelium and ciliary b...

Cardiac rhabdomyoma (CR) is the most common primary cardiac tumor in childhood. Although CRs are asymptomatic in many cases, they may cause arrhythmia, heart failure and fetal hydrops. Babies with arrhythmia in the neonatal period must be investigated for structural heart disease including CR. Cardiac rhabdomyoma may either present as an isolated tumor or may be related with tuberous sclerosis....

purpose: to report multiple astrocytic hamartomas in a patient with tuberous sclerosis (ts). patient and findings: a 16-year-old girl with ts without any ocular complaint was referred for ophthalmologic examination. she had papular rash on her face and other skin lesions elsewhere in the body which were specific for ts. multiple well-circumscribed elevated lesions characteristic of astrocytic h...

Lipomatosis is characterized by diffuse infiltration of adipocytes in a tissue. A young male patient presented for evaluation of unilateral limb swelling. On evaluation, he was found to have tuberous sclerosis complex with diffuse lipomatosis of the right leg. To the best of the authors' literature search, only two previous reports of association of tuberous sclerosis complex with diffuse lipom...

We present three families in whom a diagnosis of tuberous sclerosis is difficult to secure and we review published reports about similar cases. Tuberous sclerosis has been reported to affect as many as 1 in 9400 subjects in the population. The manifestations of this disease vary not only between but also within families. Currently no reliable method of prenatal diagnosis is available. For these...

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 abnormaliti...

We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XOkaryotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant café-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysis revealed that the elder brother of the proban...

OBJECTIVE To assess the importance of management and close follow-up of patients with tuberous sclerosis that associate renal angiomyolipomas. METHODS To report a case. RESULTS A 55 years old men with tuberous sclerosis diagnosed in childhood and later finding of bilateral giant renal masses in imaging studies, with significant compromise of renal function. The patient did not have a proper...