Aortic Thrombus Embolization in A Patient with Tuberous Sclerosis

2021 ◽  
Author(s):  
Steven Wolf ◽  
Andrew Rhoads ◽  
William Gomes ◽  
Philip Overby ◽  
Patricia McGoldrick
Keyword(s):  
Cerebral Infarction ◽  
Tuberous Sclerosis ◽  
Genetic Disorder ◽  
Altered Mental Status ◽  
Unknown Etiology ◽  
Benign Tumors ◽  
Organ Systems ◽  
Aortic Thrombus ◽  
History Of ◽  
The Right

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting many organ systems. Patients commonly develop a variety of benign tumors as well as neurological disease, including seizures, autism, and cognitive delay. We report here the case of an adolescent patient with TSC and a history of mild COVID-19 who presented with a 1-day history of altered mental status. The patient was found to have ischemic cerebral infarction of the right MCA and ACA territories. Initial angiography showed an occlusion of the right internal carotid artery without a demonstrable etiology, with follow-up echocardiography and angiography revealing a large aortic thrombus. The patient was not a candidate for thrombus removal due to her cerebral infarct and received medical anticoagulation. Thrombosis progressed to involve the left ICA, with left cerebral infarction and subsequent death. Aortic thrombus embolization as a cause of cerebrovascular accident (CVA) is a novel finding in the setting of TSC and should be considered for pediatric patients with CVA of unknown etiology. It is unclear whether this was related to the prior COVID-19 infection.

scholarly journals Hereditary haemorrhagic telangiectasia: A case report

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110030
Author(s):  
Asfandyar Mufti ◽  
Muskaan Sachdeva ◽  
Khalad Maliyar ◽  
Marissa Joseph
Keyword(s):  
Arteriovenous Malformations ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Lower Lip ◽  
Recurrent Epistaxis ◽  
Receptor Like Kinase ◽  
History Of ◽  
The Right ◽  
Symptoms And Signs

Background: Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder characterized by abnormalities in blood vessel formation. The clinical manifestations of patients affected with hereditary haemorrhagic telangiectasia include mucocutaneous telangiectasias and visceral arteriovenous malformations. Case Summary: We report the case of a 30-year-old female diagnosed with hereditary haemorrhagic telangiectasia presenting with the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and family history of hereditary haemorrhagic telangiectasia with activin receptor-like kinase 1 mutation. Upon skin examination, she was noted to have telangiectasias under left naris, inner lower lip and surface of the tongue, and a vascular malformation on the right forearm. Conclusion: Although the skin involvement and epistaxis may be mild symptoms and signs of hereditary haemorrhagic telangiectasia, timely recognition of these can ensure vigilant monitoring of potential severe complications from cerebral and pulmonary visceral arteriovenous malformations.

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.

scholarly journals A Case of Sarcoidosis Disseminated to Skeletal Tissues

2013 ◽  
Vol 1 (1) ◽  
pp. 43-45
Author(s):  
Edon Rabinowitz ◽  
Chinwe Ogedegbe ◽  
Joseph Feldman
Keyword(s):  
Cell Tumor ◽  
Unknown Etiology ◽  
Granulomatous Disease ◽  
Presenting Symptoms ◽  
Organ Systems ◽  
Mediastinal Germ Cell Tumor ◽  
History Of ◽  
Hilar Adenopathy ◽  
Eye Lesions ◽  
Musculoskeletal Involvement

Sarcoidosis is a systemic granulomatous disease of unknown etiology that typically affects young adults. Diagnostic criteria for sarcoidosis include involvement of two or more of the following organ systems: 1) pulmonary infiltrates; 2) bilateral hilar adenopathy; and 3) skin and/or eye lesions. Musculoskeletal system is less commonly involved. For that reason potential presenting symptoms can vary and make the diagnosis very challenging; particularly if a patient has symptoms that mimic other conditions. Musculoskeletal involvement for example can mimic malignancy. The following case describes a patient with known history of primary metastatic mediastinal Germ Cell Tumor (GCT) with teratomatous elements who is diagnosed with sarcoidosis involving skeletal tissues.

scholarly journals The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex

2019 ◽  
Vol 30 (4) ◽  
pp. 2199-2214
Author(s):  
Benoit Scherrer ◽  
Anna K Prohl ◽  
Maxime Taquet ◽  
Kush Kapur ◽  
Jurriaan M Peters ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Face Processing ◽  
Genetic Disorder ◽  
Neuropsychiatric Symptoms ◽  
Autism Spectrum ◽  
The Body ◽  
Fusiform Gyrus ◽  
Benign Tumors ◽  
Anatomical Connectivity

Abstract Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumors throughout the body; it is generally diagnosed early in life and has a high prevalence of autism spectrum disorder (ASD), making it uniquely valuable in studying the early development of autism, before neuropsychiatric symptoms become apparent. One well-documented deficit in ASD is an impairment in face processing. In this work, we assessed whether anatomical connectivity patterns of the fusiform gyrus, a central structure in face processing, capture the risk of developing autism early in life. We longitudinally imaged TSC patients at 1, 2, and 3 years of age with diffusion compartment imaging. We evaluated whether the anatomical connectivity fingerprint of the fusiform gyrus was associated with the risk of developing autism measured by the Autism Observation Scale for Infants (AOSI). Our findings suggest that the fusiform gyrus connectivity captures the risk of developing autism as early as 1 year of age and provides evidence that abnormal fusiform gyrus connectivity increases with age. Moreover, the identified connections that best capture the risk of developing autism involved the fusiform gyrus and limbic and paralimbic regions that were consistent with the ASD phenotype, involving an increased number of left-lateralized structures with increasing age.

scholarly journals Castleman's Disease: An Intrapulmonary Form with Intrafissural Development

2009 ◽  
Vol 9 ◽  
pp. 940-945 ◽  
Author(s):  
Hajer Racil ◽  
Sana Cheikh Rouhou ◽  
Olfa Ismail ◽  
Saoussen Hantous-Zannad ◽  
Nawel Chaouch ◽  
...  
Keyword(s):  
Contrast Enhancement ◽  
Castleman’S Disease ◽  
Lower Lobe ◽  
Unknown Etiology ◽  
Castleman's Disease ◽  
Curative Surgery ◽  
Abnormal Shadow ◽  
History Of ◽  
Chest X Ray ◽  
The Right

Castleman's disease (CD) is an uncommon, mainly benign, lymphoproliferative disorder of unknown etiology, mostly involving the mediastinum. Parenchymal lung involvement of the disease is exceedingly rare. We describe a case of CD in a 23-year-old woman with a 4-year history of recurring dyspnea and nonproductive cough, whose chest X-ray showed an abnormal shadow of the right hilum. Chest computed tomography confirmed the presence of a tissue-density mass of the right lower lobe, demonstrating poor contrast enhancement, associated with multiple laterotracheal and mediastinal lymphadenopathies. The patient underwent curative surgery, revealing a right hilar compressive mass, with an intrafissural development between the superior and middle lobes. Pneumonectomy was performed due to profuse bleeding. This case of CD is particular because of its unusual intrapulmonary location and its intrafissural development. Poor contrast enhancement is atypical in CD.

scholarly journals P.058 Tuberous sclerosis complex associated intracranial abnormalities identified in utero via antenatal ultrasound

2019 ◽  
Vol 46 (s1) ◽  
pp. S29
Author(s):  
IE Hanes ◽  
N Abdeen ◽  
K Muir ◽  
E Sell
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Retrospective Review ◽  
In Utero ◽  
Benign Tumors ◽  
Brain Abnormalities ◽  
Antenatal Ultrasound ◽  
Brain Ultrasound ◽  
The Right ◽  
Cognitive Problems

Background: Tuberous sclerosis complex (TSC) is characterized by growth of benign tumors in the skin, brain, kidneys, lung and heart. Prognosis is mostly determined by the extent of brain involvement as tumors in the brain lead to seizures and cognitive problems. Epilepsy is highly associated with the cognitive abnormalities in TSC and recent evidence suggests anti-epileptic treatment before onset of seizures reduces epilepsy severity and risk of mental retardation. Screening and potential identification of TSC in utero via ultrasound would allow for prophylactic seizure management in these children. The sensitivity of antenatal ultrasound in the identification of brain abnormalities associated with TSC has not yet been published. In this case, we review the antenatal ultrasounds of a child with TSC for evidence of brain abnormalities in utero. Methods: Retrospective review Results: Retrospective review of antenatal ultrasounds showed some evidence of intracranial abnormalities. Ultrasound at 34 weeks and 4 days gestation revealed an echogenic density in the right ventricle that correlates with SEGA on post-natal MRI brain at 12 days of life. Post-natal brain ultrasound at 37 weeks revealed multiple cranial abnormalities not seen in utero. Conclusions: There are limitations to antenatal neurosonography in the detection of intracranial abnormalities associated with TSC.

scholarly journals A Case of Cerebral Vasculitis Associated with Ulcerative Colitis

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Naveen Raj ◽  
Matthew Arkebauer ◽  
Barry Waters ◽  
Brucha Dickinson
Keyword(s):  
Ulcerative Colitis ◽  
Central Nervous System Disease ◽  
Altered Mental Status ◽  
Inflammatory Disorder ◽  
Cerebral Lesions ◽  
System Disease ◽  
Organ Systems ◽  
History Of ◽  
Inflammatory Bowel ◽  
The Brain

Ulcerative colitis (UC) is a chronic, debilitating condition characterized by inflammation of the colonic mucosa. It is regarded as a systemic inflammatory disorder that can affect a number of organ systems. Central nervous system disease associated with UC is a rare sequela of inflammatory bowel disease, occurring in less than 5% of cases. These manifestations include arterial and venous thrombosis, leukoencephalitis, seizures, and vasculitis. We present a case of a 61-year-old female with a two-year history of well-controlled ulcerative colitis, who developed altered mental status and weakness. On brain imaging, she was found to have cerebral lesions which were biopsied. Histopathology subsequently revealed coagulative necrosis and inflammation characteristic of vasculitis. Rheumatology serologies were negative, and the patient was started on steroids that dramatically improved her neurological function, with no residual deficits, and led to resolution of the brain lesions.

scholarly journals Successful Bronchoscopic Cryorecanalization in a Case of Endobronchial Lipoma

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
B. Lamprecht ◽  
G. Hutarew ◽  
P. Porsch ◽  
B. Wegleitner ◽  
M. Studnicka
Keyword(s):  
Airway Obstruction ◽  
Lower Lobe ◽  
Rigid Bronchoscopy ◽  
Benign Tumors ◽  
Histopathological Diagnosis ◽  
Heavy Smoking ◽  
History Of ◽  
The Right

Endobronchial lipomas are rare benign tumors; less than 150 cases have been reported so far. Bronchial occlusion usually leads to a misdiagnosis of asthma/COPD or malignancy. We report the case of a 67-year-old man with a history of heavy smoking (100 pack years), dyspnea on exertion, cough, and malaise who was treated for pneumonia for three weeks. Due to nonresolving atelectasis of the superior segment of the right lower lobe, a malignant endobronchial tumor was suspected. Rigid bronchoscopy with cryorecanalization led to both the definite histopathological diagnosis of endobronchial lipoma and the reopening of an endoluminal airway obstruction during one procedure.

scholarly journals Calcified Right Ventricular Fibroma in an Adult: A Case Report

2021 ◽  
Author(s):  
Huanhuan Gao ◽  
Shuai Yuan ◽  
Zhiqiang Hu ◽  
Zhelan Zheng ◽  
Shengjun Wu
Keyword(s):  
Right Ventricular ◽  
Histopathological Examination ◽  
Tumor Resection ◽  
Anterior Wall ◽  
Benign Tumors ◽  
Troublesome Symptom ◽  
History Of ◽  
The Right ◽  
Operative Recovery

Background: Cardiac fibromas are rare benign tumors of the heart composed of fibroblasts and collagen. They are common among children and adolescents but are rarely present in adults. Case presentation: We here report the case of a fifty-seven-year-old man who complaining of a 2-year history of chest tightness at rest. Transthoracic echocardiography detected a severe calcified mass protruding outside the right ventricular anterior wall near the apex. The patient was referred for tumor resection. The calcified mass was determined to be a cardiac fibroma with postoperative histopathological examination. The patient experienced an unremarkable post-operative recovery and was discharged 8 days later. Subsequent follow-up has shown complete freedom from his troublesome symptom. Conclusions: Preoperative diagnosis with various imaging modalities and early surgery are the keys to improve prognosis of patients with cardiac fibromas.

scholarly journals Primary leiomyoma of the ureter: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Shingo Morinaga ◽  
Shigeyuki Aoki ◽  
Motoi Tobiume ◽  
Genya Nishikawa ◽  
Hiroyuki Muramatsu ◽  
...  
Keyword(s):  
Malignant Tumors ◽  
Histopathological Examination ◽  
Urine Cytology ◽  
Benign Tumors ◽  
Case Presentation ◽  
Old Japanese ◽  
Retrograde Pyelogram ◽  
History Of ◽  
The Right ◽  
Enhanced Computed Tomography

Abstract Background Only 14 cases of leiomyoma with ureteral origin have been reported previously. Such primary leiomyomas often present as hydronephrosis, making the diagnosis difficult. Radical nephroureterectomy is often performed because of the possible diagnosis of a malignant tumor. We report the 15th case of primary leiomyoma with a ureteral origin. Case presentation A 51-year-old Japanese man presented with a chief complaint of asymptomatic gross hematuria with a history of hypertension. Enhanced computed tomography showed a tumor at the upper part of the right ureter that appeared to be the cause of hydronephrosis and contracted kidney; no retroperitoneal lymphadenopathy and distal metastasis were observed. A well-defined 20-mm (diameter) defect was identified at the upper of the right ureter on retrograde pyelogram with no bladder cancer on cystoscopy. Urine cytology and right divided renal urine cytology findings were negative. Laparoscopic nephroureterectomy was performed, and the extracted tumor measured 20 × 13 mm. Histopathological examination revealed primary leiomyoma with no recurrence 16 months after the operation. Conclusions Preoperative examination with the latest available ureteroscopic technology can help preserve renal function in the case of benign tumors by enabling preoperative ureteroscopic biopsy or intraoperative rapid resection. Moreover, nephroureterectomy is recommended in the case of preoperative suspicion of ureteral malignant tumors.

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