Relevant bibliographies by topics / Rhabdomyoma

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Rhabdomyoma'

Author: Grafiati
Published: 12 December 2022
Last updated: 19 July 2025

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Journal articles on the topic "Rhabdomyoma"

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Wang, Ching-Ping, Yi-Hao Chang, and Ya-Ting Chang. "Fetal Rhabdomyoma of the Right Tonsil with Polyp-Like Appearance." Case Reports in Otolaryngology 2015 (2015): 1–3. http://dx.doi.org/10.1155/2015/713278.

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Skeletal muscle neoplasms, in contrast to other groups of tumors, are almost malignant. The benign variant, rhabdomyoma, is distinctly rare. Rhabdomyomas can be classified generally into two types: cardiac and extracardiac. Extracardiac rhabdomyoma can be further divided into three subtypes: adult, fetal, and genital type. Adult rhabdomyoma is the most common subtype of rhabdomyoma even though it remains relatively rare. Fetal rhabdomyomas are less common than the adult type. In this paper we report a rare case of a fetal rhabdomyoma with polyp-like appearance originating from right tonsil. Punch biopsy and then right tonsillectomy were performed for complete excision. There was no obvious recurrence.
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Thatte, Nikhil M., Kristine J. Guleserian, and Surendranath R. Veeram Reddy. "New-onset cardiac rhabdomyoma beyond infancy in a patient with tuberous sclerosis complex." Cardiology in the Young 26, no. 2 (2015): 396–99. http://dx.doi.org/10.1017/s1047951115001183.

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AbstractCardiac rhabdomyomas in patients with tuberous sclerosis complex are usually detected antenatally or during infancy, with subsequent stabilisation or spontaneous regression. Development of a new cardiac rhabdomyoma beyond infancy is very rare. We report a male child who needed resection of a large rhabdomyoma in neonatal life, and then developed a new-onset rhabdomyoma at 2 years of age in a different location, needing another resection. Routine surveillance for cardiac rhabdomyomas in asymptomatic patients with tuberous sclerosis is essential.
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de Trey, Lorraine A., Stephan Schmid, and Gerhard F. Huber. "Multifocal Adult Rhabdomyoma of the Head and Neck Manifestation in 7 Locations and Review of the Literature." Case Reports in Otolaryngology 2013 (2013): 1–5. http://dx.doi.org/10.1155/2013/758416.

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Background. Adult rhabdomyoma is a rare benign tumour with the differentiation of striated muscle tissue, which mainly occurs in the head and neck region. Twenty-six cases of multifocal adult rhabdomyoma are documented in the literature.Method. We report a 55-year-old male with simultaneous diagnosis of 7 adult rhabdomyomas and review the literature of multifocal adult rhabdomyoma.Result. Review of the literature revealed 26 cases of multifocal adult rhabdomyoma, of which only 7 presented with more than 2 lesions. Mean age at diagnosis was 65 years with a male to female ratio of 5.5 : 1. Common localizations were the parapharyngeal space (36%), larynx (15%), submandibular (14%), paratracheal region (12%), tongue (11%), and floor of mouth (9%). Besides the known radiological features of adult rhabdomyoma, our case showed FDG-uptake in (18) F-FDG PET/CT.Conclusion. This is the first case of multifocal adult rhabdomyoma published, with as many as 7 simultaneous adult rhabdomyomas of the head and neck.
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Martínez-García, Alfonso, Carolina Michel-Macías, Guadalupe Cordero-González, et al. "Giant left ventricular rhabdomyoma treated successfully with everolimus: case report and review of literature." Cardiology in the Young 28, no. 7 (2018): 903–9. http://dx.doi.org/10.1017/s1047951118000598.

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AbstractIntroductionIntracardiac rhabdomyomas can cause severe ventricular dysfunction and outflow tract obstruction.Case reportA term newborn infant with antenatal diagnosis of giant left ventricle rhabdomyoma presented with cardiac failure and duct-dependent systemic circulation after birth. She was treated successfully with everolimus, showing decrease in tumour size and improvement in left ventricular ejection fraction.DiscussionTumour regression rate was 0.32 cm2/day and improved to 0.80 cm2/day with the use of everolimus. Herein we report a newborn with inoperable giant left ventricular cardiac rhabdomyoma and significant regression of the tumour. To our knowledge, this is the largest left ventricular rhabdomyoma reported. A review of the literature was undertaken for comparison.ConclusionEverolimus has proven to be efficacious in size reduction of cardiac rhabdomyomas in cases when surgical resection is not possible.
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Lee, Seung Jae, Eun Song Song, Hwa Jin Cho, Young Youn Choi, Jae Sook Ma, and Young Kuk Cho. "Rapid Regression of Obstructive Cardiac Rhabdomyoma in a Preterm Neonate after Sirolimus Therapy." Biomedicine Hub 2, no. 1 (2017): 1–6. http://dx.doi.org/10.1159/000460813.

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Cardiac rhabdomyoma can be subclinical or fatal depending on the onset age, involving site, and the size and degree of invasion. Although most rhabdomyomas become smaller with time, emergency intervention is indicated when severe obstruction induces hemodynamic instability. Mammalian target of rapamycin (mTOR) inhibitors have been used to treat neonates and children with hemodynamically obstructive cardiac rhabdomyoma. Herein, we report a premature neonate at the gestational age of 30 + 4 weeks with severe left ventricular outflow tract obstructive cardiac rhabdomyoma who was successfully treated with the mTOR inhibitor sirolimus. To the best of our knowledge, this is the first recorded case of a premature neonate with obstructive cardiac rhabdomyoma who was successfully treated with an mTOR inhibitor. Therefore, sirolimus could be considered as an alternative medical option for managing premature neonates with obstructive cardiac rhabdomyoma.
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Song, Eun Song, Kumi Jeong, Gun Kim, et al. "Spontaneous Regression of Cardiac Rhabdomyoma Presenting as Severe Left Ventricular Inlet Obstruction in a Neonate with Tuberous Sclerosis." Case Reports in Cardiology 2018 (2018): 1–5. http://dx.doi.org/10.1155/2018/8395260.

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Cardiac rhabdomyoma can be subclinical or have a fatal presentation according to the onset age and involved site, size, and degree of invasion. Although most cardiac rhabdomyomas become smaller with time, emergency intervention is indicated when severe obstruction has occurred. In this report, we describe the spontaneous regression of a large cardiac rhabdomyoma (20.5 × 15.6 mm) presenting as severe left ventricular inlet obstruction in a neonate with tuberous sclerosis. Although a cardiac rhabdomyoma can be large enough to induce left ventricular inlet obstruction, conservative treatment without aggressive surgical intervention can be considered if the hemodynamic condition does not deteriorate.
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Maglio, Riccardo, Scicchitano Francesco, Magistri Paolo, Valabrega Stefano, D'Angelo Francesco, and Ramacciato Giovanni. "Voluminous Extracardiac Adult Rhabdomyoma of the Neck: A Case Presentation." Case Reports in Surgery 2012 (2012): 1–3. http://dx.doi.org/10.1155/2012/984789.

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Introduction. Rhabdomyomas of the head and neck are exceptionally rare benign mesenchymal tumors. Rare cases have been reported to involve other sites of the body including the head and neck regions.Case Presentation. We report a case of voluminous extracardiac adult rhabdomyoma affecting adult patients and initially seen as slowly growing, indolent neoplasms. The patient is a seventy-year old male Italian patient.Conclusion. Adult extracardiac rhabdomyoma is a rare benign tumor that may present with symptoms that vary from aerodigestive tract obstruction to remaining asymptomatic for many years. Although histology is very characteristic, several differential diagnoses have to be considered. To our knowledge, this is the first case of voluminous adult-type symptomless rhabdomyoma.
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O. H. Plaksyvyy, I. V. Kalutsʹkyy, O. O. Mazur, and M. M. Sorokhan. "A TUMOR BIOPSY OF THE PARAPHARYNGEAL SPACE, COMPLICATED BY MASSIVE BLEEDING, WHICH REQUIRED URGENT TRACHEOSTOMY AND DRESSING OF THE EXTERNAL CAROTID ARTERY." Clinical anatomy and operative surgery 17, no. 2 (2018): 100–102. http://dx.doi.org/10.24061/1727-0847.17.2.2018.17.

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The article describes a rare case of rhabdomyoma parapharyngeal space. A peculiarity of the clinical case is the appearance after the biopsy of massive pharyngeal bleeding from the leak into the larynx, which required urgent tracheostomy and dressing of the external carotid artery. The tumor is removed by external access, a week after the elimination of complications. The result of histological examination is rhabdomyoma. The tumor of the parapharyngeal space occurs periodically, however rhabdomyomas are rare diseases.
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Vandewalle, Giovani, Jean-Marie Brucher, and Alex Michotte. "Intracranial facial nerve rhabdomyoma." Journal of Neurosurgery 83, no. 5 (1995): 919–22. http://dx.doi.org/10.3171/jns.1995.83.5.0919.

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✓ Nerve rhabdomyomas are exceedingly rare benign tumors of the peripheral nerves consisting of well-differentiated striated muscle fibers admixed with parental nerve fibers. Only one case of intracranial nerve rhabdomyoma has been described, which affected the trigeminal nerve. This report presents the detailed neuropathological description of a nerve rhabdomyoma arising in the schwannian portion of the facial nerve root in a 41-year-old Caucasian man. The nerve fibers were arranged chaotically as in a traumatic neuroma. Because of the intimate intermingling of this slowg-rowing tumor with the parental nerve fibers, complete excision should be avoided.
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Fernández, José Martín Toranzo, Marco Antonio Metlich Medlich, Luis Horacio Rojas López, César Federico Gutiérrez Loredo, and Lizzete Claudia Ortiz Luque. "Fetal intermediate rhabdomyoma of the lip." Journal of Clinical Pediatric Dentistry 29, no. 2 (2005): 179–80. http://dx.doi.org/10.17796/jcpd.29.2.am6558832l731tt2.

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Fetal rhabdomyoma is a rare benign neoplasm of skeletal muscle that must be distinguished histologically from various malignant lesions, including rhabdomyosarcoma. They have recently been subdivided into two histological variants myxoid and cellular fetal rhabdomyomas. This article describes a case of an 8 month infant with a fetal rhabdomyoma in the upper lip. Illustrate the histological features and discusses the means of distinguishing these lesions from various other conditions with which they may be confused. J Clin Pediatr Dent 29(2): 179-180, 2005
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Dissertations / Theses on the topic "Rhabdomyoma"

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Leloup, Ludovic. "Implication du système protéolytique neutre calcium-dépendant au cours de l'adhésion et de la migration des cellules myogéniques et lors de l'invasion tumorale." Bordeaux 1, 2007. http://www.theses.fr/2007BOR13365.

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La micro- et la milli-calpaïne sont des protéases, membres du système protéolytique calcium-dépendant qui est constitué de quatorze enzymes. Ces deux isoformes ubiquitaires sont impliquées dans de nombreux phénomènes biologiques dont myogenèse. Elles interviennent notamment lors de la migration et de la fusion des myoblastes. Les calpaïnes sont également impliquées das différente pathologies telles que certaines dystrophies musculaires, la maladie d'alzheimer et lors du développement de certains cancers. Afin d'appréhender le rôle de ces enzymes au cours des phénomènes migratoires normaux et pathologiques, nous nous sommes proposés 1) d'étudier le rôle de chacune des calpaïnes lors de l'adhésion et de la migration des myoblastes, 2) de stimuler la migration des cellules myogéniques en agissant sur les calpaïnes et 3) d'étudier le rôle de ces enzymes lors de l'invasion de cellules tumorales de phénotype musculaire, les rhabdomyosarcomes (RMS). Les résultats obtenus démontrent que la micro-et la milli-calpaïne sont fortement impliquées dans l'adhésion et l'étalement des myoblastes, leurs rôles respectifs seraient différents au cours de ces phénomènes. L'addition de facteur de croissance tels que l'IGF-1, le TGF-béta1 et l'insuline augmente la migration des myoblastes en stimulant l'expression et l'activité de la milli-calpaïne via la voie ERK/MAPK. Dans les RMS, le système protéolytique calcium-dépendant est fortement perturbé, il en résulte une activité exacerbée des calpaïnes. L'inhibition de l'activité de ces enzymes réduit fortemnt les capacités invasives de ces cellules ce qui suggère l'implication des calpaïnes lors de la dissémination métastatique.
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MEDIONI, DAN. "Contribution a l'etude de l'histoire naturelle du rhabdomyome cardiaque : a propos de deux observations." Montpellier 1, 1993. http://www.theses.fr/1993MON11105.

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Ricaud, Stéphanie. "Implication de la myostatine et des récepteurs de l'acide rétinoïque dans la dérégulation du programme myogénique des rhabdomyosarcomes humains." Montpellier 2, 2004. http://www.theses.fr/2004MON20014.

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Grandemange, Stéphanie. "Bases moléculaires de l'induction de la transformation des fibroblastes du derme humain après surexpression du récepteur mitonchondrial de la triiodothyronine." Montpellier 2, 2005. http://www.theses.fr/2005MON20086.

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Aw, Fatou. "Les rhabdomyomes cardiaques dans la sclérose tubereuse de Bourneville : perturbations fonctionnelles cardiaques et perspectives thérapeutiques." Thèse, 2016. http://hdl.handle.net/1866/19424.

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Novartis a subventionné ce projet de recherche<br>La sclérose tubéreuse de Bourneville (STB) est une affection caractérisée par la formation de tumeurs bénignes dans différents organes dont le cœur. Elle est due à la désinhibition de la cible mammalienne de la rapamycine (mTOR). Ces tumeurs encore appelées rhabdomyomes (RHM) au niveau cardiaque régressent spontanément dans la plupart des cas mais peuvent se compliquer d’arythmie ou d’obstruction ce qui peut compromettre le débit cardiaque et nécessiter un traitement. Les objectifs généraux de ce travail étaient d’étudier les perturbations des paramètres fonctionnels cardiaques et d’analyser la variabilité de la fréquece cardiaque chez une population porteuse de rhabdomyomes cardiaques dans la sclérose tubéreuse de Bourneville. Méthodes : Nous avons mené cette étude transversale entre février 2013 et mars 2015 afin de déterminer l'impact de la RHM sur le système de conduction cardiaque, sur l'homéostasie nerveuse autonome et sur le fonctionnement du coeur. Trente sujets avec TSC ont été recrutés pour participer à cette étude et ils ont été comparés à 13 contrôles sains qui étaient des membres de la famille libres de RHM. Les séries d’échocardiogrammes qui ont été précédemment enregistrées ont servi à documenter la taille de la tumeur au cours de la petite enfance. Un enregistrement Holter de 24 heures a été effectué pour la détection éventuelle d'arythmies et l'analyse de la variabilité de la fréquence cardiaque (VFC). Nous avons aussi rapporté quatre cas de régression de gros rhabdomyomes obstructifs chez des nouveaux nés sous everolimus par rapport à dix contrôles historiques non traités de notre centre. Résultats : La durée moyenne du suivi était de 4.5 ans. La prévalence des RHM était de 46.8% (37 RHM) entre 0-5 ans, 13.9% (11 RHM) entre 6-11 ans et 39.2% (31 RHM) entre 12- 33 ans. Dans 20% des cas, les RHM étaient responsables d’obstacles à l’éjection ou au remplissage du cœur. Les troubles du rythme retrouvés étaient de bénignes extrasystoles ventriculaires (55%) et des extrasystoles supraventriculaires (50%), Ces extrasystoles étaient plus fréquentes chez ces patients comparés à la population générale. Des arythmies significatives étaient notées chez 3 patients (30%) porteurs de large RHM: l’un présentait une tachycardie supraventriculaire sur syndrome de Wolff Parkinson White, l’autre une fibrillation auriculaire et le dernier des tachycardies supraventriculaires paroxystiques. Dans ii cette étude, nous avons aussi noté une augmentation de la variabilité de la fréquence cardiaque chez les cas dans les domaines et temporels spatial. En analyse régression linéaire on note une inversion de la pente de la courbe de variabilité de la fréquence cardiaque selon l'âge comparée à celle des témoins sains. Chez quatre patients pour qui les RHM obstructifs étaient traités par everolimus, la régression était en moyenne 11.8 fois plus rapide (droite de régression linéaire -0.0285 vs. -0.0024; p<0.001). La durée moyenne de régression de 50% de la taille des masses était de 1.13 ± 0.33 mois (extrêmes 0.66 à 1.4 mois) pour les patients traités par everolimus comparée à 72.9 ± 53.03 mois dans le groupe contrôle historique (p = 0.026). Aucun effet secondaire significatif n’a été observé. Conclusion: Dans cette série les arythmies cardiaques sont plus fréquentes chez les porteurs de sclérose tubéreuse de Bourneville comparés à la population générale avec une tendance plus importante chez les cas avec de gros rhabdomyomes. Pour ces derniers, l’everolimus est efficace pour la réduction de leur taille durant la période néonatale. Mais avec le peu de données de sécurité et d’innocuité disponibles cette approche thérapeutique ne doit être considérée que pour un nombre de cas limités.<br>Background: Tuberous Sclerosis Complex is caracterised by the formation of benign tumors in various organs, including the heart. It is caused by the disinhibition of the mammalian target of rapamycin (mTOR) protein. RHM (rhabdomyomas) regress spontaneously in most cases but can be complicated by serious arrhythmias or obstruction that may compromise cardiac output requiring treatement. The main objectives of this work were to study functional and electrical cardiac desorders and to analyze the heart rate variability in population of TSC with cardiac rhabdomyoma. Methods: We conducted this cross-sectional study between February 2013 and March 2015 to determine the impact of HMR on the cardiac conduction system and on autonomic nervous homeostasis. Thirty subjects with TSC were recruited to participate in this study and compared to 13 healthy controls that were free family members of RHM. The serial echocardiograms that were previously recorded were used to document the size of the tumor during early childhood. A 24-hour Holter record was performed for possible arrhythmia detection and heart rate variability (VFC) analysis. Results: The median follow-up time was 4.5 years. The prevalence of RHM was 46.8% (37 RHM) between 0-5 years, 39.2% (31 RHM) between 12-33 years and 13.9% (11 RHM) between 6-11 years. RHM causes in 20% an obstacle to inflow or outflow tract. The encountered benign arrhythmias founded were isolated ventricular premature beats (55%) and supraventricular premature beats (50%), which were 2 times fold and 4 times fold more compared to reported prevalence in the general pediatric population, respectively (p<0.05). Significant arrhythmias were noted in 3 (30%) patients with large RHM: one patient with Wolff Parkinson White syndrome had supraventricular tachycardia, one with atrial fibrillation, a third patient had symptomatic paroxysmal supraventricular tachycardia. There was a trend which did not reach statistical significance difference in the prevalence of cardiac arrhythmias between cases with small versus large RHM (p=0.07). In this study heart rate variability was increased in patients with TSC according to time, frequency and non-linear domains. For this heart rate variabity TSC patients with RHM showed an inversed relationship towards age compared to controls, Studies from four everolimus treated cases were compared to 10 controls. Compared to historic controls, everolimus treated patients had a RHM size regression rate 11.8 times faster (linear regression slope -0.0285 vs. -0.0024; p<0.001). The average time to 50% size reduction was 1.13 ± 0.33 month (range 0.66 to 1.4 months) for everolimus treated patients compared to 72.9 ± 53.03 months in the historic controls (p = 0.026). No significant side effect were observed. Conclusion: In this series, arrhythmia was more prevalent in TSC compared to general pediatric population, with a trend towards higher prevalence in cases with larger RHM. Everolimus is effective for size reduction of RHM during the neonatal period. With limited safety data this approach should be used with caution, only in selective cases.
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Books on the topic "Rhabdomyoma"

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Archer, Nick, and Nicky Manning. Cardiac tumours. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198766520.003.0020.

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Dornbach, Gabriele. Rhabdomyome des Herzens. 1988.

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On a giant-celled rhabdomyo sarcoma from the trout. s.n., 1995.

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Adami, J. George. On a Giant-celled Rhabdomyo Sarcoma From the Trout [microform]. Legare Street Press, 2021.

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Book chapters on the topic "Rhabdomyoma"

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Watters, Karen, and Reza Rahbar. "Rhabdomyoma." In Pediatric Head and Neck Tumors. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-8755-5_38.

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Campanacci, Mario. "Rhabdomyoma." In Bone and Soft Tissue Tumors. Springer Vienna, 1999. http://dx.doi.org/10.1007/978-3-7091-3846-5_72.

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Mocellin, Simone. "Rhabdomyoma." In Soft Tissue Tumors. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-58710-9_223.

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Fritchie, Karen. "Rhabdomyoma." In Encyclopedia of Pathology. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-28845-1_5461-1.

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Campanacci, Mario, Franco Bertoni, and Patrizia Bacchini. "Rhabdomyoma." In Bone and Soft Tissue Tumors. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-662-29279-2_72.

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Johnson, Craig, and Randy Ray Richardson. "Rhabdomyoma." In Atlas of Acquired Cardiovascular Disease Imaging in Children. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-44115-3_16.

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Al-Obaidi, Mustafa Najah, Ahmed Dheyaa Al-Obaidi, Shkaib Ahmad, Abeer Mundher Ali, and Sara Shihab Ahmad. "Rhabdomyoma." In Clinical and Surgical Aspects of Congenital Heart Diseases. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-23062-2_26.

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Gaeta, Raffaele, and Alessandro Franchi. "Rhabdomyoma." In Encyclopedia of Pathology. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-41894-6_4930.

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Mocellin, Simone. "Genital Rhabdomyoma." In Soft Tissue Tumors. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-58710-9_109.

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Mocellin, Simone. "Adult Rhabdomyoma." In Soft Tissue Tumors. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-58710-9_12.

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Conference papers on the topic "Rhabdomyoma"

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V, Jamuna, Kavinkumar V, Prabu Sankar R, Logasundar M, and Krishna Kumar K. "ARVNet: Attention-Residual V-Net for Fetal Cardiac Rhabdomyoma Segmentation in Echocardiography." In 2025 8th International Conference on Trends in Electronics and Informatics (ICOEI). IEEE, 2025. https://doi.org/10.1109/icoei65986.2025.11012982.

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Charfi, Manel, Rim Zaghdoud, Amel Ben Hamad, et al. "P641 Management of cardiac rhabdomyoma in neonates." In Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.972.

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Ćorić, Ana, Tomislav Ćaleta, Iva Vukšić, et al. "180 The association of prenatally diagnosed cardiac rhabdomyoma and tuberous sclerosis complex." In 10th Europaediatrics Congress, Zagreb, Croatia, 7–9 October 2021. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2021. http://dx.doi.org/10.1136/archdischild-2021-europaediatrics.180.

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Moura, Ludmila Sandy Alves, André Taumaturgo Cavalcanti Arruda, and Mário Luciano de Melo Silva Júnior. "Case Report of Tuberous Sclerosis with early West Syndrome." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.542.

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Context: We present a patient diagnosed with Tuberous Sclerosis (TS) who developed West Syndrome (WS) early on. Early diagnosis of TS is important for genetic counseling and WS requires early intervention to avoid neurodevelopmental deficits. Case report: Y.S.L.C., female, 45 days old, presented cardiac rhabdomyoma and 9 hypomelanotic lesions, being diagnosed with TS. At 2 months old, she presented epileptic seizures of flexion spasms, which progressed in 1 week to neuropsychomotor development (NP) regression and hypsarrhythmia. She was diagnosed with WS and treated with vigabatrin. There was suppression of hypsarrhythmic pattern at 8 months old. Currently 8 years old, she has hypochromic stains, hemangiomyolipomas in the right kidney, bilateral renal cysts, sebaceous adenomas, facial angiofibromas, cortical tubers, subependymal nodules, Intellectual Disability and Focal Epilepsy. Conclusions: ET is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes leading neurodevelopmental changes and cellular hyperplasias. TE diagnosis is clinical, based on major (such as facial angiofibromas, nail fibroma and hypopigmented macules) and minor criteria and molecular tests in doubtful cases. TE is associated with epilepsy in 80-90% of cases (30 to 50% of infantile spasms). WS is an encephalopathy of infantile spasms, NP arrest/regression and hypsarrhythmia. Early diagnosis and use of anti-epileptic drugs are necessary to avoid cognitive impairment.
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Beer, Emma N., Cody Henderson, and Joshua C. Anchan. "Everolimus: A Novel Chemotherapeutic Approach for Cardiac Rhabdomyomas." In AAP National Conference & Exhibition Meeting Abstracts. American Academy of Pediatrics, 2021. http://dx.doi.org/10.1542/peds.147.3_meetingabstract.1040.

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Altmann, J., V. Kiver, W. Henrich, and A. Weichert. "Klinischer Verlauf von pränatal diagnostizierten Rhabdomyomen." In Interdisziplinärer Kongress | Ultraschall 2018 – 42. Dreiländertreffen SGUM | DEGUM | ÖGUM. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1670442.

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Altmann, J., V. Kiver, W. Henrich, and A. Weichert. "Klinischer Verlauf von Kindern mit pränatal diagnostizierten Rhabdomyomen." In 62. Kongress der Deutschen Gesellschaft für Gynäkologie und Geburtshilfe – DGGG'18. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1671121.

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Antoniadis, Sophia, Michael O. Schneider, Matthias W. Beckmann, et al. "Erfolgreiche intrauterine Sirolismus-Therapie eines fetalen kardialen Rhabdomyoms mit drohendem hypoplastischen Linksherzsyndrom." In Interdisziplinärer Kongress | Ultraschall 2022. Georg Thieme Verlag, 2022. http://dx.doi.org/10.1055/s-0042-1749552.

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Fröhlich, S. "Pränatale Therapie von Rhabdomyomen mit Sirolimus im "off label use"." In 47. Dreiländertreffen der ÖGUM/DEGUM/SGUM. Georg Thieme Verlag KG, 2024. http://dx.doi.org/10.1055/s-0044-1789087.

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Decker, Y., S. Sommer, R. Oberhoffer, D. Grab, C. Scholz, and K. Kraft. "Fallbericht einer 36-jährigen IVG/IP mit Rhabdomyom des II. Fetus bei Di-Di Geminigravidität." In Kongressabstracts zur Tagung 2020 der Deutschen Gesellschaft für Gynäkologie und Geburtshilfe (DGGG). © 2020. Thieme. All rights reserved., 2020. http://dx.doi.org/10.1055/s-0040-1718256.

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