نتایج جستجو برای: tuberous sclerosis

تعداد نتایج: 65457  

2015
Anuj Khandelwal Avinash De Sousa Alka Pawar

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.

Journal: :Journal of medical genetics 1968
N C Nevin W G Pearce

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, ...

Journal: :AJNR. American journal of neuroradiology 1995
H Kim A Kerr H Morehouse

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.

2004
SJOERD Sc WAGENAAR CHRIS HILVERING SHELLEY E OVERBEEK DINEKE VERHEIJEN-BREEMHAAR BRYAN CORRIN

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...

Journal: :The European respiratory journal 2015
Angelo M Taveira-DaSilva Amanda M Jones Patricia Julien-Williams Jianhua Yao Mario Stylianou Joel Moss

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...

Journal: :Pediatric neurology 2013
Neil I Weisenfeld Jurriaan M Peters Peter T Tsai Sanjay P Prabhu Kira A Dies Mustafa Sahin Simon K Warfield

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...

Journal: :Archives of disease in childhood 1993
D W Webb R D Thomas J P Osborne

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...

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1996
F Schillinger R Montagnac

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...

Journal: :Anais brasileiros de dermatologia 2011
Allysson Antonio Ribeiro Gomes Ylka Virginia Ribeiro Gomes Felipe Barbosa Lima Salustiano Gomes de Pinho Pessoa

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...

Journal: :iranian journal of neonatology 0
seyed hasan voshtani assistant professor, pediatric cardiology department- heshmat cardiology hospital, rasht, iran hannan ebrahimi medical student, student research committee, giulan university of medical science, rasht, iran sina khajeh jahromi medical student, student research committee, giulan university of medical science, rasht, iran

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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