OBJECTIVES To establish the frequency of fits and mental retardation in an unbiased group of tuberous sclerosis patients. METHODS Known tuberous sclerosis families with more than one affected person were ascertained for a genetic linkage study. A number of members were born after genetic counselling had been given after identification of the proband. These subjects were then carefully examine...

A 38 year old Saudi patient with tuberous sclerosis and chronic renal failure is described. The association of these two conditions has rarely been described. This case supports the observation that when chronic renal failure occurs in patients with tuberous sclerosis, cystic renal disease (with or without hamartomas) is more likely to be the underlying cause, rather than hamartomas alone.

The accidental finding of a giant left ventricular rhabdomyoma in a female infant with no tuberous sclerosis is described herein. This is the first report of a huge cardiac rhabdomyoma occluding the left ventricular cavity, which was not associated with tuberous sclerosis. The clinical management of the baby and the difficult therapeutical choices involved both pediatricians and pediatric cardi...

Cardiac rhabdomyomas are often associated with tuberous sclerosis in infants. We report a 5 month old child presented with a tumor in the right ventricle and echocardiography features of rhabdomyoma. Both the child and her father had cutaneous features of tuberous sclerosis. In the absence of features of congestive heart failure, surgery is rarely required.

Tuberous sclerosis is a multisystem disorder characterized by changes primarily involving the skin, eye, and central nervous system. Although the disease often produces mental retardation and seizures, this is not universal, and some patients with tuberous sclerosis lead a relatively normal life.

ABSTRACT Tuberous sclerosis is a rare disorder with no specific treatment. In some cases psychological symptoms are the initial presenting symptoms, making the differential diagnosis difficult. We describe a patient with tuberous sclerosis who developed psychiatric symptoms and discuss the use of low-dose quetiapine to control her emotional and behavioral symptoms.

A unique pedigree is presented which shows tuberous sclerosis in three generations of a family, in which two heterozygotes for the mutant gene were found to be clinically asymptomatic. A genetic model is proposed to explain these findings based upon the segregation of a second unlinked autosomal dominant gene modifying the expression of the gene for tuberous sclerosis.

Two cases of lymphangioleiomyomatosis (LLM) of the lungs are compared, one with tuberous sclerosis and the other representing an isolated lung involvement. An increased frequency of complex chromosomal rearrangements was found in peripheral lymphocytes of the patient with tuberous sclerosis, in comparison to the patient with isolated lymphangioleiomyomatosis. Telomeric associations were found i...

Five children with tuberous sclerosis and anti-convulsant-associated rickets have been seen in a general paediatric clinic over the last 5 years. It is suggested that vitamin D prophylaxis is particularly indicated in patients with tuberous sclerosis taking anticonvulsant medication.

A surface electrocardiogram showing type B Wolff-Parkinson-White syndrome pattern was part of the cardiac findings in a female of 24 with florid features of tuberous sclerosis. She had cardiomegaly but no intracardiac tumour was demonstrated. Wolff-Parkinson-White syndrome, though rare, has previously been described in association with tuberous sclerosis in children but not before in adults.