Brain MRI in Fetuses with Cardiac Tumours

2007 ◽  
Vol 20 (5) ◽  
pp. 494-499 ◽  
Author(s):  
E. Jurkiewicz ◽  
M. Bekiesińska-Figatowska ◽  
A. Romaniuk-Doroszewska ◽  
J. Dangel
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Imaging Modality ◽  
Brain Mri ◽  
Multisystem Disorder ◽  
Complete Evaluation ◽  
Sonographic Examination ◽  
Diagnosis And Prognosis ◽  
Prenatal Mri ◽  
Cardiac Tumours

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder which affects the skin, brain, heart and other organs. It is caused by mutations of two genes: TSC1 (on chromosome 9q34) or TSC2 (on 16p13.3). 70% of cases are sporadic with new mutations. This study aimed to highlight the utility of prenatal MRI as an adjunct imaging modality in the diagnosis and prognosis of tuberous sclerosis complex. Prenatal ultrasound and magnetic resonance imaging were performed in seven fetuses at a gestational age of 30, 32, 34 and 35 weeks using a 1.5 T MRI scanner. SSFSE,T2- and FGRE/T1-weighted images were obtained in axial, coronal and sagittal planes. Postnatal MRI was performed in two cases. Intracardiac tumors (rhabdomyomas) were revealed on ultrasound in all fetuses. On sonographic examination the brain tissue appeared normal in all cases. Brain MRI revealed focal low-signal-intensity lesions, localized along the walls of the lateral ventricles of five fetuses. Another hypointense lesion was seen at the grey/white matter junction in one case. Brain MRI of two fetuses was normal. The diagnosis of TSC was established in five cases. Postnatal MRI in two cases confirmed prenatal findings. MRI allows more complete evaluation of the fetus and helps to determine the diagnosis and prognosis in cases of TSC. The use of prenatal MR imaging in addition to prenatal sonography has the potential to improve genetic counseling and prenatal diagnosis of patients with tuberous sclerosis.

scholarly journals Behavioral Symptoms May Correlate With the Load and Spatial Location of Tubers and With Radial Migration Lines in Tuberous Sclerosis Complex

2021 ◽  
Vol 12 ◽  
Author(s):  
Rony Cohen ◽  
Jacob Genizi ◽  
Liora Korenrich
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Neuropsychiatric Symptoms ◽  
Brain Mri ◽  
Spatial Location ◽  
Neuropsychiatric Disorders ◽  
Temporal Area ◽  
Radial Migration ◽  
Parietal Area

Objective: Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous genetic disorder. The clinical manifestations are extensive and include neurological, dermatological, cardiac, ophthalmic, nephrological, and neuropsychiatric manifestations. The prediction and pathophysiology of neuropsychiatric disorders such as emotional symptoms, conduct problems, hyperactivity, and poor social behavior are poorly understood. The aim of the study was to diagnose neuropsychiatric symptoms in individuals with TSC, and to examine their possible correlations with quantity, magnitude, and spatial location of tubers and radial migration (RM) lines.Methods: The cohort comprised 16 individuals with TSC, aged 5–29 years, with normal or low normal intelligence. The participants or their parents were requested to fill Strengths and Difficulties Questionnaire (SDQ) and the TAND (TSC-associated neuropsychiatric disorders) Checklist for assessment of their neuropsychiatric symptoms. Correlations were examined between these symptoms and the magnitude, quantities, and locations of tubers and white matter RM lines, as identified in T2/FLAIR brain MRI scans.Results: The SDQ score for peer relationship problems showed correlation with the tuber load (r = 0.52, p < 0.05). Tuber load and learning difficulties correlated significantly in the temporal and parietal area. Mood swings correlated with tubers in the parietal area (r = 0.529, p < 0.05). RM lines in the temporal area correlated with abnormal total SDQ (r = 0.51, p < 0.05). Anxiety and extreme shyness were correlated with RM lines in the parietal area, r = 0.513, p < 0.05 and r = 0.593, p < 0.05, respectively. Hyperactive/inattention correlated negatively with RM lines in the parietal area (r = −707, p < 0.01).Conclusions: These observations may lead to future studies for precise localization of neuropsychiatric symptoms, thereby facilitating directed therapy.

Intraventricular lesions in tuberous sclerosis complex: a possible association with the caudate nucleus

2012 ◽  
Vol 9 (4) ◽  
pp. 406-413 ◽  
Author(s):  
Joel S. Katz ◽  
Sarah S. Milla ◽  
Graham C. Wiggins ◽  
Orrin Devinsky ◽  
Howard L. Weiner ◽  
...  
Keyword(s):  
Caudate Nucleus ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Brain Mri ◽  
Institutional Review ◽  
Intimate Association ◽  
Mri Scans ◽  
Cranial Mri ◽  
Cortical Tubers ◽  
Mri Study

Object Tuberous sclerosis complex (TSC) can manifest with 3 principal intracranial pathological entities: cortical tubers, subependymal nodules (SENs), and subependymal giant cell astrocytomas (SEGAs). The authors analyzed the location and growth of intraventricular lesions in a large cohort of patients with TSC. Methods After institutional review board protocol approval, the authors retrospectively reviewed brain MRI scans of TSC patients for whom at least 1 electronically stored cranial MRI study was available. Collected data included location, size, and growth over time of all intraventricular lesions. Results The authors reviewed 560 scans in 103 patients, who harbored 496 intraventricular lesions. Of the 496 lesions, 157 lesions were located along the caudate-thalamic groove (CTG) in 88 patients. Twenty SEGAs were operated on. The remaining 339 lesions were distributed along the lateral ventricle, always in contact with the course of the caudate nucleus, and were presumed to be SENs. Twenty-two patients with more than 4 years of follow-up had 34 lesions along the CTG, of which 23 were stable in size and 11 grew. All other intraventricular lesions were stable. Seven-Tesla MRI showed the intimate association of SENs and the caudate nucleus in 1 patient. Conclusions Intraventricular lesions in TSC patients are located throughout the lateral ventricular wall. Their location exclusively follows the course of the caudate nucleus. Only lesions along the CTG showed the potential to grow, and these were then identified as SEGAs. The remaining lesions were SENs. Understanding why these lesions develop in relation to the caudate nucleus may offer insights into therapy.

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

NO01 Multiple cardiac tumours as the first symptom of tuberous sclerosis complex – presentation of 12 patients

2007 ◽  
Vol 11 ◽  
pp. 35
Author(s):  
J. Borkowska ◽  
S. Jozwiak ◽  
D. Domanska-Pakiela ◽  
M. Kaczorowska ◽  
K. Kotulska ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Cardiac Tumours

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

The tuberous sclerosis complex: balancing proliferation and survival

2011 ◽  
Vol 39 (2) ◽  
pp. 466-471 ◽  
Author(s):  
Romana Tomasoni ◽  
Anna Mondino
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Mammalian Target Of Rapamycin ◽  
Negative Regulator ◽  
Signalling Pathways ◽  
Energy Status ◽  
Multisystem Disorder ◽  
Genes Encoding ◽  
Complex Balancing ◽  
Benign Tumours

Mutations in genes encoding either hamartin [TSC1 (tuberous sclerosis complex 1)] or tuberin (TSC2) result in a multisystem disorder characterized by the development of benign tumours and hamartomas in several organs. The TSC1 and TSC2 proteins form a complex that lies at the crossroad of many signalling pathways integrating the energy status of the cell with signals induced by nutrients and growth factors. The TSC1/2 complex is a critical negative regulator of mTORC1 [mTOR (mammalian target of rapamycin) complex 1], and by that controls anabolic processes to promote cell growth, proliferation and survival. In the present paper, we review recent evidence highlighting the notion that the TSC1/2 complex simultaneously controls mTOR-dependent and mTOR-independent signals critical for the balancing of cell proliferation and cell death.

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.

scholarly journals Surgical Treatment of Abdominal Aortic Aneurysm in a 3-Year-Old Girl with Tuberous Sclerosis Complex

2020 ◽  
pp. 1-3
Author(s):  
José I. Aramendi ◽  
Cortes Andrés ◽  
Cubero Alain ◽  
Hamzeh Gadah ◽  
Rodríguez Miguel A ◽  
...  
Keyword(s):  
Abdominal Aortic Aneurysm ◽  
Aortic Aneurysm ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Abdominal Mass ◽  
Multisystem Disorder ◽  
Tissue Proliferation ◽  
First Line Therapy ◽  
Abdominal Aortic ◽  
Risk Of Rupture

The tuberous sclerosis complex is a multisystem disorder affecting children and adults. The association between abdominal aortic aneurysm and tuberous sclerosis is rare. We present 3-year-old girl with a pulsatile abdominal mass in the pediatrician´s medical review. An abdominal evaluation showed a 6cm infrarenal abdominal aortic aneurysm. The patient underwent open repair with a 14-mm Dacron tube graft. The histological examination revealed connective tissue proliferation, fibrosis, and calcification of the aortic wall. Frequent follow-ups with ultrasounds showed no alterations. Due to the high risk of rupture, early surgical repair is the first-line therapy.

Tuberous Sclerosis Complex in Children with Apical Hypertrophic Cardiomyopathy as the First Manifestation: A Case Report and Literature Review

2020 ◽  
Author(s):  
Yan-xin-li Han ◽  
Ting He ◽  
Yu Wen ◽  
Xiu-fen Hu ◽  
Hui-ling Lu
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Occipital Cortex ◽  
Cardiac Tumors ◽  
Cardiac Rhabdomyoma ◽  
Apical Hypertrophic Cardiomyopathy ◽  
Systemic Examination

Abstract Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant hereditary neurodermal syndrome with diverse clinical manifestations, implicating multiple organs including the nervous system, skin, kidney, lung, heart, eyes and others. Most of the children are first diagnosed with seizures or facial hemangiofibroma, 45% to 60% of patients with TSC lesions can affect the heart resulting in cardiac rhabdomyoma. Although most cardiac rhabdomyomas are asymptomatic, some children may develop severe symptoms such as hemodynamic abnormalities, arrhythmias, and even heart failure in the neonatal period and early infancy. But Tuberous sclerosis complex with apical hypertrophic cardiomyopathy as the first manifestation is rare. Hence, physicians may delay diagnosis and treatment of TSC due to the lack of comprehensive thinking on this atypical presentation.Case presentation A 5-year-old girl was admitted to our hospital due to syncope for more than 10 days. When she was 8 months old, she was diagnosed with hypertrophic cardiomyopathy and received long-term oral propranolol treatment. After her admission, a thorough examination was performed. Heart exam revealed the revelant problem. Brain MRI demonstrated mutiple nodules in bilateral frontal parietal occipital cortex, subcortical cortex and bilateral lateral ventricular margin consistent with TSC. Genetic analysis (high-precision clinical display PLUS, JiaJian Medicine Company) revealed that the patient had inherited the TSC2 mutation c.1343T> C (p.L448P) from her mother (heterozygous), who was clinically unaffected.Conclusions: This report highlights that TSC occurs in different ways. Given the possibility of insidious and atypical tuberous sclerosis, when apical hypertrophy or cardiac tumors are identified, it is recommended to broaden the systemic examination even including genetic testing to further determine the cause, in order to reduce the misdiagnosis rate of tuberous sclerosis.

Sign in / Sign up

Export Citation Format

Share Document