scholarly journals Case report on Tuberous Sclerosis

2014 ◽  
Vol 2 (4) ◽  
pp. 208-210
Author(s):  
Sushma Shrestha ◽  
Sabina Shrestha ◽  
Anil Raj Ojha
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Late Childhood ◽  
Multisystem Disorder ◽  
Rare Genetic Disorder ◽  
Autosomal Dominant Fashion

Tuberous Sclerosis Complex is a rare genetic disorder inherited in autosomal dominant fashion. It is a multisystem disorder involving brain, skin, kidneys, heart, eyes and lungs which becomes apparent only in late childhood, limiting the usefulness of early diagnosis in infancy. Here, we report a case of an 11 year male child with tuberous sclerosis.DOI: http://dx.doi.org/10.3126/jkmc.v2i4.11798Journal of Kathmandu Medical CollegeVol. 2, No. 4, Issue 6, Oct.-Dec., 2013Page : 208-210

scholarly journals Incidental diagnosis of tuberous sclerosis in a child with falciparum malaria

2016 ◽  
Vol 4 (1) ◽  
pp. 269
Author(s):  
Sanjay Singla ◽  
Anuradha Sanadhya ◽  
Suresh Goyal ◽  
Amzad Khan ◽  
Chakshu Chaudhry
Keyword(s):  
Mental Retardation ◽  
Tuberous Sclerosis ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Female Child ◽  
Late Childhood ◽  
Multisystem Disorder ◽  
Incidental Diagnosis ◽  
Autosomal Dominant Fashion ◽  
Typical Skin

Tuberous sclerosis complex is a rare genetic disorder inherited in autosomal dominant fashion. It is a multisystem disorder involving brain, skin, kidneys, heart, eyes and lungs which becomes apparent only in late childhood, limiting the usefulness of early diagnosis in infancy. Here, we report a case of a 14 year female child presenting with seizure, mental retardation and typical skin manifestations.

TUBEROUS SCLEROSIS: PRESENTATION OF A CASE AND REVIEW OF THE LITERATURE

2021 ◽  
pp. 95-96
Author(s):  
Fabricio Andrés Lasso Andrade ◽  
Jorge Alejandro Cadena Arteaga ◽  
Ángela Maria Fajardo Arteaga ◽  
Viviana Lizeth Echeverry Morillo ◽  
David Alfredo Acevedo Vargas ◽  
...  
Keyword(s):  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Causal Link ◽  
Benign Tumors ◽  
Review Of The Literature ◽  
Dominant Inheritance ◽  
Variable Expression

Tuberous Sclerosis Complex (TSC) also known as Bournneville disease. TSC is a multisystemic genetic disorder with autosomal dominant inheritance, of variable expression, which is mainly characterized by the presence of benign tumors or hamartomas in the nervous system and skin, but which may also be present in the heart, kidney, lung and other organs. The most frequent symptom is epilepsy, affecting 80-90% of patients with TSC which manifests itself in childhood between 1 to 3 years of age. We present a case of sporadic onset tuberous sclerosis with epilepsy that had a causal link with TSC after admission to the emergency room in a convulsive status.

Tuberous sclerosis complex renal disease

2015 ◽  
Author(s):  
Bradley P. Dixon ◽  
J. Christopher Kingswood ◽  
John J. Bissler
Keyword(s):  
Renal Failure ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Mammalian Target Of Rapamycin ◽  
Cystic Disease ◽  
Pulmonary Lymphangioleiomyomatosis ◽  
Brain Involvement ◽  
Almost All

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting almost all organs. It has wider phenotypic variation than often appreciated, with less than half showing the combination of characteristic facial angiofibromas, epilepsy, and mental retardation. Renal angiomyolipomata or cysts are found in 90% and renal failure was historically a common mode of adult death from the disease. Pulmonary lymphangioleiomyomatosis is restricted to females. Angiomyolipomata or cystic disease, or both, may cause renal failure. Angiomyolipomata may also haemorrhage, especially from larger lesions. Manifestations of brain involvement substantially complicate management of many patients with TSC. The causative genes TSC1 and TSC2 encode tuberin and hamartin which are involved in control of the mammalian target of rapamycin pathway. Inhibitors of that pathway, such as sirolimus and everolimus, are therefore logical approaches to therapy and have been shown to be effective in reducing angiomyolipomata volume. It remains to be seen whether they can protect renal function.

Fetal Echocardiographic Detection of Cardiac Tumors: A Case Report of Multiple Fetal Cardiac Rhabdomyomas

2019 ◽  
Vol 35 (5) ◽  
pp. 426-430
Author(s):  
Bailey Sarff ◽  
Randall Floyd ◽  
Amy Bildner ◽  
Janell Stormo ◽  
Kelsy Fisher
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Cardiac Tumor ◽  
Genetic Disorder ◽  
Cardiac Tumors ◽  
Size Number

Cardiac rhabdomyomas are the most common fetal cardiac tumor. They can be detected in the second and third trimesters. Rhabdomyomas are most commonly associated with the genetic disorder tuberous sclerosis complex. When associated with tuberous sclerosis complex, cardiac rhabdomyomas usually regress within the first few years of life, without complications. Symptoms depend on the size, number, and location of the rhabdomyomas. A case report of multiple cardiac rhabdomyomas that was found at 35 weeks’ gestation and is discussed.

scholarly journals Tale of a Teenager: A Case Report of Tuberous Sclerosis

2021 ◽  
Vol 33 (1) ◽  
pp. 99-103
Author(s):  
Nawsabah Noor ◽  
Iffat Ara Jurfa ◽  
Halima Khatun ◽  
Homayra Tahseen ◽  
Quazi Tarikul Islam
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Skin Lesions ◽  
Benign Tumors ◽  
Dominant Inheritance ◽  
Neurocutaneous Syndrome ◽  
The Brain

Tuberous sclerosis complex is an unusual neurocutaneous syndrome with autosomal-dominant inheritance. It is characterized by the development of benign tumors involving the brain, skin, retina, heart, kidneys, lungs, and liver. The classic triad of clinical features comprises learning disability, epilepsy and skin lesions but there is marked heterogeneity in clinical features. Here, we present a case report of a 17-old-year male with characteristic clinical and radiological features of tuberous sclerosis complex. Bangladesh J Medicine July 2022; 33(1) : 99-103

scholarly journals Case report on tuberous sclerosis

2017 ◽  
Vol 6 (4) ◽  
pp. 997
Author(s):  
Zeebaish S. ◽  
Hemalatha P. ◽  
Anusha Y. ◽  
Surendra Reddy N. ◽  
Durga Prasad T. S.
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Tuberous Sclerosis ◽  
Female Child ◽  
Skin Lesions ◽  
Multisystem Disorder ◽  
Three Generations ◽  
Pigmented Skin Lesions ◽  
The Brain

Tuberous sclerosis is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung and liver.  The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively.  Most features of tuberous sclerosis become evident only in childhood, limiting their usefulness for early diagnosis. We report a case of 3months old female child with seizures and hypo-pigmented skin lesions. The case is rare as it is documented in a family affected continuously in three generations involving four members.

scholarly journals Tuberous Sclerosis Complex Associated Lymphangioleiomyomatosis Presenting with Spontaneous Pneumothorax and Renal Angiomyolipomas

2019 ◽  
Vol 48 (2) ◽  
pp. 51-54
Author(s):  
Mohammed Mirazur Rahman ◽  
Shish Mohammad Sarkar ◽  
Manzurul Ibrahim Musa ◽  
Farjana Binte Habib ◽  
Md Nazmul Hasan ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Spontaneous Pneumothorax ◽  
Autosomal Dominant ◽  
Multisystem Disorder ◽  
Autosomal Dominant Disorder ◽  
Oxygen Inhalation ◽  
Lower Back ◽  
Thin Walled

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder manifested by involvement of multisystem including skin, central nervous system, heart, kidneys and eyes. Lymphangioleiomyomatosis (LAM) is also a multisystem disorder that primarily affects the lungs. We report a case of tuberous sclerosis complex associated lymphangio-leiomyomatosis (TSC-LAM) in a 26-year-old female patient who was presented with spontaneous pneumothorax and renal angiomyolipomas. In clinical examination; We found multiple angiofibromas over her face, shagreen patches over upper and lower back and ungual fibromas in both fingers and toes. HRCT of chest revealed right sided pneumothorax with multiple thin walled cysts in both lungs. Ultrasonogram (USG) and Computer Tomography (CT) scan of abdomen revealed bilateral angiomyolipomas. We managed her pneumothorax with intercostal chest tube drainage and oxygen inhalation. Bangladesh Med J. 2019 May; 48 (2): 51-54

scholarly journals Tuberous sclerosis complex

2012 ◽  
Vol 87 (2) ◽  
pp. 184-196 ◽  
Author(s):  
Daniela Araujo Rodrigues ◽  
Ciro Martins Gomes ◽  
Izelda Maria Carvalho Costa
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Multisystem Disorder ◽  
Therapeutic Trials ◽  
Multiple Organs ◽  
Tissue Replacement ◽  
History Of ◽  
Neurocutaneous Syndrome ◽  
Made In

Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in an unpredictable manner. The dermatologist plays an essential role in the history of the disease, since skin manifestations represent the most prevalent clinical features, enabling early diagnosis and intervention in its natural course. This article aims to inform the scientific community about advances made in the study of genetics and molecular biology. Recent findings regarding stimulation of tumor growth have been changing the history of this condition, making therapeutic trials with topical and systemic drugs possible. Knowledge of these topics enables better management of the patients affected, since tissue replacement by tumors can result in significant morbidity and mortality.

scholarly journals Tuberous sclerosis complex for the pulmonologist

2021 ◽  
Vol 30 (161) ◽  
pp. 200348
Author(s):  
Yasmine Rebaine ◽  
Mouhamad Nasser ◽  
Barbara Girerd ◽  
Caroline Leroux ◽  
Vincent Cottin
Keyword(s):  
Computed Tomography ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Lung Parenchyma ◽  
Heterozygous Mutation ◽  
High Recurrence Rate ◽  
Childbearing Age ◽  
Multisystem Disorder ◽  
Pulmonary Manifestations

Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder affecting almost all organs with no sex predominance. TSC has an autosomal-dominant inheritance and is caused by a heterozygous mutation in either the TSC1 or TSC2 gene leading to hyperactivation of the mammalian target of rapamycin (mTOR). TSC is associated with several pulmonary manifestations including lymphangioleiomyomatosis (LAM), multifocal micronodular pneumocyte hyperplasia (MMPH) and chylous effusions. LAM is a multisystem disorder characterised by cystic destruction of lung parenchyma, and may occur in either the setting of TSC (TSC-LAM) or sporadically (S-LAM). LAM occurs in 30–40% of adult females with TSC at childbearing age and is considered a nonmalignant metastatic neoplasm of unknown origin. TSC-LAM is generally milder and, unlike S-LAM, may occur in males. It manifests as multiple, bilateral, diffuse and thin-walled cysts with normal intervening lung parenchyma on chest computed tomography. LAM is complicated by spontaneous pneumothoraces in up to 70% of patients, with a high recurrence rate. mTOR inhibitors are the treatment of choice for LAM with moderately impaired lung function or chylous effusion. MMPH, manifesting as multiple solid and ground-glass nodules on high-resolution computed tomography, is usually harmless with no need for treatment.

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