نتایج جستجو برای: tuberous sclerosis
تعداد نتایج: 65457 فیلتر نتایج به سال:
Tuberous Sclerosis presenting as a case of Obsessive Compulsive Disorder (OCD) : a rare presentation
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.
There have been many reviews of tuberous sclerosis (Critchley and Earl, 1932; Ross and Dickerson, 1943; Dawson, 1954; Reed, Nickel, and Campion, 1963; Paulson and Lyle, 1966; Lagos and Gomez, 1967). The classical features, epilepsy, mental retardation, and adenoma sebaceum, are found in most patients with tuberous sclerosis, while retinal tumours (phakomas), visceral tumours, skeletal lesions, ...
We describe a patient with tuberous sclerosis and an insulinoma. The neurologic abnormalities typically present in patients with tuberous sclerosis may, in rare cases, be manifestations of hypoglycemia. We discussed a possible association between tuberous sclerosis and multiple endocrine neoplasia type I.
Tuberous sclerosis is a rare disease and pulmonary manifestations are extremely rare. Like pulmonary lymphangioleiomyomatosis, tuberous sclerosis of the lung affects only women of childbearing age and carries a very poor prognosis. The radiological and pathological features of the two conditions in the lung are indistinguishable and some authors therefore consider lymphangioleiomyomatosis to be...
What are the clinical features, severity, and rate of progression of lung disease in women with tuberous sclerosis and lymphangioleiomyomatosis (LAM) and how do they differ from patients with sporadic LAM? Data from 94 tuberous sclerosis/LAM and 460 sporadic LAM women were compared. 40 tuberous sclerosis/LAM and 40 sporadic LAM patients were age- and lung function-matched, and changes in volume...
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...
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 Chronic renal failure is rare in tuberous sclerosis, but its precise frequency is not known and treatment modalities have not been evaluated. METHODS A questionnaire was addressed to the 260 French dialysis centres and the characteristics of 65 patients with tuberous sclerosis and chronic renal failure were analysed. RESULTS In France the approximate prevalence of tuberous sclero...
Tuberous sclerosis is a rare genetic disease with autosomal dominant inheritance, associated with multiple hamartomas in several organs, such as the brain, skin, lung, kidney, heart and eyes. The authors of this study report a case of a 30 years old female patient with tuberous sclerosis, presenting multiple angiofibromas on face treated with high frequency equipment (radiofrequency), and discu...
introduction a heart tumor in children is rare and the most primary tumor of the heart is rhabdomyoma. we report a case of cardiac mass diagnosed at 32th weeks of pregnancy while the mother had gestational diabetes mellitus. serial echocardiography revealed regression of the tumor; then follow up of the patient confirmed tuberous sclerosis.
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