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Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder characterized by seizures, mental retardation, and various hamartomatous lesions, including renal angiomyolipoma (AML) and pulmonary lymphangioleiomyomatosis. A 22-year-old woman with TSC presented with multiple renal AMLs exceeding
Retinal astrocytic hamartoma is the most common retinal finding in tuberous sclerosis and has been reported in association with cystoid macular edema. A retinal achromic patch is the second most common retinal finding in tuberous sclerosis. The authors report the first case of bilateral cystoid
Hydrops fetalis is a manifestation of tuberous sclerosis that previously has not been reported, to our knowledge. The multiple-organ involvement in this disorder is stressed. Support is given to the hypothesis that tuberous sclerosis represents a widespread tissue dysplasia involving all germ
BACKGROUND
fetal rhabdomyoma is the most common fetal cardiac tumor and is often associated with tuberous sclerosis. Usually the tumors are relatively small and show no mediastinal shift. Fetal hydrops and pericardial effusion are rarely seen.
METHODS
in this case report we present the neonatal
An hydropic infant was delivered at 32 weeks gestation by emergency Caesarean section for acute polyhydramnios. A diagnosis of cardiac rhabdomyomata was made on echocardiography. The baby survived 10 days, during which time repeated episodes of supraventricular tachycardia occurred. She eventually
A 29-year-old woman was admitted to our hospital with a 7-day history of elevated temperature to 39.5 degrees C associated with headache and nausea. She had been diagnosed with tuberous sclerosis complex 10 years earlier. Her unconsciousness progressed, and she was diagnosed as having aseptic
Tuberous sclerosis (TSC) is an autosomal-dominant disorder that presents with highly variable clinical manifestations including seizures, mental retardation, skin lesions, and hamartomas affecting multiple organ systems such as the heart, brain, eye, and kidney. A 42-year retrospective review of 70
METHODS
A 50-year-old woman with known tuberous sclerosis complex (TSC) was referred for further work-up of nephrotic syndrome. A left-side nephrectomy due to an anamnestically reported "shrunken kidney" had been performed at the age of 15 years. The patient presented with massive edematous swelling
Numerous hard cortical nodules, a large subependymal giant-cell astrocytoma and a massive rhabdomyoma were described in a hydropic infant of 31 weeks gestation who lived only four hours. With six other documented cases, tuberous sclerosis in premature infants was reviewed in the hope to pinpoint the
This report describes an unusual case of recurrent vitreous hemorrhage and atypical retinal neovascularization in a patient with tuberous sclerosis. During three years of observation, the patient also developed retinal telangiectasis with macular edema and lipid exudation. Although the patient did
A 14-year-old female with tuberous sclerosis and history of seizures was found dead in bed at home 3 days after she had been assessed as doing well at a routine neurology clinic appointment. She had been treated with an antiepileptic drug, felbamate, for 36 months and had been seizure-free except
Tuberous sclerosis is an autosomal dominant disorder characterized by involvement of skin, nervous system, kidneys, and lungs. It results from mutations in 1 of 2 genes: TSC1 (encoding hamartin) or TSC2 (encoding tuberin), leading to dysregulation and activation of the mammalian target of rapamycin
Cerebellar involvement in tuberous sclerosis is rare and generally nonsymptomatic. The authors describe a cerebellar tuber in a 5-year-old boy with tuberous sclerosis. A CT scan at age 2 years showed the characteristic cortical, white matter, and subependymal lesions of tuberous sclerosis. At 5