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J Nephrol 2022 Jun 24. Epub 2022 Jun 24.

Department of Public Health, Chair of Nephrology "Federico II", University of Naples, Via Sergio Pansini, 5, 80131, Naples, Italy.

Simple renal cysts are a common finding during abdominal imaging assessment. The incidence increases with age and it is higher in male gender. Parapelvic cysts are a subset of simple cysts that arise within the renal parenchyma, adjacent to the renal sinus, characterized by being generally single, larger, and incompletely surrounded by renal parenchyma. Read More

SA J Radiol 2022 20;26(1):2406. Epub 2022 May 20.

Department of Medical Genetics, Division of Molecular Biology and Human Genetics, Tygerberg Hospital, Stellenbosch University, Cape Town, South Africa.

Renal cell carcinoma is rarely described in paediatric patients with tuberous sclerosis complex. This report describes a case of an 11-year-old male with tuberous sclerosis-associated renal cell carcinoma. Read More

J Neurosurg Case Lessons 2022 Jun 13;3(24):CASE21663. Epub 2022 Jun 13.

Department of Neurosurgery, University of Oklahoma College of Medicine, Oklahoma City, Oklahoma.

Background: Olfactory neuroblastomas are rare sinonasal tumors that arise from the olfactory epithelium. The authors presented a case of an olfactory neuroblastoma with extensive cranial invasion that demonstrated dramatic response to sorafenib, a tyrosine kinase inhibitor.

Observations: A 54-year-old man with history of prostate cancer and melanoma presented with left-sided proptosis and was found to have a 6. Read More

Genet Mol Biol 2022 27;45(2):e20200387. Epub 2022 May 27.

Chinese Academy of Medical Sciences and Peking Union Medical College, Peking Union Medical College Hospital, Department of Urology, Beijing, China.

We sought to explore the relationship between renal lesion features and genetic mutations in tuberous sclerosis complex (TSC) patients. TSC patients with renal lesions were subjected to TSC1/2 gene next-generation sequencing (NGS). TSC1/2 mutation types and imaging examinations were screened for combined analysis of genetic and clinical features. Read More

Am J Med Genet A 2022 May 25. Epub 2022 May 25.

Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.

We aimed to further characterize pancreatic involvement in tuberous sclerosis complex (TSC), with a focus on management of TSC-associated nonfunctional pancreatic neuroendocrine tumors (PNETs). This was a retrospective chart review of a large cohort of TSC patients. A total of 637 patients with a confirmed diagnosis of TSC were seen at the Herscot Center for Tuberous Sclerosis Complex at Massachusetts General Hospital. Read More

Curr Rev Clin Exp Pharmacol 2022 May 17. Epub 2022 May 17.

Nephrology Section, Hospital Universitario Principe de Asturias, Alcala de Henares, Madrid, Spain.

Background: Autosomal dominant polycystic kidney disease (ADPKD) may coexist with other genetic disorders, such as tuberous sclerosis, when deletion in TSC2/PKD1 genes occurs. Recently, the effect of tolvaptan has been explored in ADPKD patients alone, but its safety and efficacy on TSC2/PKD1 contiguous gene syndrome is unknown.

Case Presentation: This report describes the case of an asymptomatic patient with TSC2/PKD1 contiguous gene syndrome that fulfills the imaging criteria for initiating the treatment with tolvaptan. Read More

Urol Case Rep 2022 May 26;42:102042. Epub 2022 Feb 26.

Department of Radiology, Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou, 310007, Zhejiang Province, China.

Eosinophilic solid and cystic renal cell carcinoma (ESC RCC) is a special classification of indolent kidney tumors newly discovered in recent years. It is extremely uncommon, with only a few clinical and pathological reports, and its imaging description are very rare. Here, we present a case of ESC RCC. Read More

Quant Imaging Med Surg 2022 May;12(5):2995-2999

Department of Radiology, The Second Affiliated Hospital of Kunming Medical University, Kunming, China.

Front Neurosci 2022 13;16:806876. Epub 2022 Apr 13.

Center of Cyclotron and PET Radiopharmaceuticals, Department of Nuclear Medicine and PET/CT-MRI Center, The First Affiliated Hospital of Jinan University, Guangzhou, China.

Autism spectrum disorder (ASD) is a basket term for neurodevelopmental disorders characterized by marked impairments in social interactions, repetitive and stereotypical behaviors, and restricted interests and activities. Subtypes include (A) disorders with known genetic abnormalities including fragile X syndrome, Rett syndrome, and tuberous sclerosis and (B) idiopathic ASD, conditions with unknown etiologies. Positron emission tomography (PET) is a molecular imaging technology that can be utilized for dynamic and quantitative research, and is a valuable tool for exploring pathophysiological mechanisms, evaluating therapeutic efficacy, and accelerating drug development in ASD. Read More

Neurobiol Dis 2022 07 20;169:105737. Epub 2022 Apr 20.

Department of Biology, University of Virginia, Charlottesville, VA 22904, USA; Department of Cell Biology, University of Virginia, Charlottesville, VA 22904, USA; Department of Neuroscience, University of Virginia, Charlottesville, VA 22904, USA.

Altered mitochondrial DNA (mtDNA) occurs in neurodegenerative disorders like Alzheimer's disease (AD); how mtDNA synthesis is linked to neurodegeneration is poorly understood. We previously discovered Nutrient-induced Mitochondrial Activity (NiMA), an inter-organelle signaling pathway where nutrient-stimulated lysosomal mTORC1 activity regulates mtDNA replication in neurons by a mechanism sensitive to amyloid-β oligomers (AβOs), a primary factor in AD pathogenesis (Norambuena et al., 2018). Read More

J Med Case Rep 2022 Apr 22;16(1):166. Epub 2022 Apr 22.

Pediatrics, 1 Brookdale University Hospital and Medical center, 1 Brookdale Plaza, Brooklyn, NY, 11212, USA.

Background: Cardiac tumors in infants and children are rare. The most common cardiac tumor is rhabdomyoma, which may be associated with tuberous sclerosis. However, not all cardiac rhabdomyomas are pathognomonic for tuberous sclerosis, and not all congenital cardiac tumors are rhabdomyomas. Read More

Pol Arch Intern Med 2022 05 14;132(5). Epub 2022 Apr 14.

Pediatr Investig 2022 Mar 21;6(1):16-22. Epub 2022 Feb 21.

Child Neurology and Psychiatry Unit, Systems Medicine Department Tor Vergata University Rome Italy.

Tuberous sclerosis complex (TSC) is a rare multisystem, autosomal dominant neurocutaneous syndrome in which epilepsy is the most common of several neurological and psychiatric manifestations. Around two thirds of patients develop drug-resistant epilepsy for whom surgical resection of epileptogenic foci is indicated when seizures remain inadequately controlled following trial of two antiseizure medications. The challenge with presurgical and surgical approaches with patients with TSC is overcoming the complexity from the number of tubers and the multiplex epileptogenic network forming the epileptogenic zone. Read More

Front Neurol 2022 14;13:782479. Epub 2022 Mar 14.

United Graduate School of Child Development, Osaka University, Osaka, Japan.

Objective: Tuberous sclerosis complex (TSC) is a genetic disease that arises from or abnormalities and induces the overactivation of the mammalian/mechanistic target of rapamycin pathways. The neurological symptoms of TSC include epilepsy and tuberous sclerosis complex-associated neuropsychiatric disorders (TAND). Although TAND affects TSC patients' quality of life, the specific region in the brain associated with TAND remains unknown. Read More

Medicine (Baltimore) 2022 Mar;101(11)

School of Medicine, Chung Shan Medical University, Taichung, Taiwan,Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan,Department of Psychology, Chung Shan Medical University, Taichung, Taiwan,Clinical Psychological Room, Chung Shan Medical University Hospital, Taichung,Taiwan,Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan,Department of Medical Imaging, Chung Shan Medical University Hospital, TaichungTaiwan,Department of Medical Imaging and Radiological Sciences, and Graduate Institute of Artificial Intelligence, Chang Gung University, Taoyuan, Taiwan,MedicalImaging Research Center, Institute for Radiological Research, Chang Gung University and Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan,Department ofPsychiatry, Chang Gung Memorial Hospital, Chiayi, Taiwan.

Abstract: Tuberous sclerosis complex (TSC) is a rare genetic disorder with multisystem involvement. TSC is characterized by benign hamartomas in multiple organs, including the brain, and its clinical phenotypes may be associated with abnormal functional connections. We aimed to use resting-state functional connectivity to provide findings of disrupted functional brain networks in TSC patients using graph theoretical analysis (GTA) and network-based statistic (NBS) analysis. Read More

AJNR Am J Neuroradiol 2022 04 24;43(4):633-638. Epub 2022 Mar 24.

Monash Health Paediatric Neurology Unit and Department of Paediatrics (M.C.F.), Monash University, School of Clinical Sciences, Clayton, Victoria, Australia.

Background And Purpose: Most patients with tuberous sclerosis complex (TSC) do not receive prenatal diagnosis. Our aim was to describe MR imaging findings to determine the following: 1. Whether normal fetal MR imaging is more common in fetuses imaged at ≤24 weeks' gestation compared with >24 weeks 2. Read More

BMJ Case Rep 2022 Mar 24;15(3). Epub 2022 Mar 24.

Paediatric Haematology/Oncology, KK Women's and Children's Hospital, Singapore.

Cardiac rhabdomyoma is the most common cardiac tumour in childhood, with a strong genetic association to tuberous sclerosis complex. Although most of the patients remain asymptomatic, a small proportion present with cardiac complications in the early neonatal period. Timely initiation of treatment can potentially reduce disease morbidity, and mammalian target of rapamycin (M-TOR) inhibitors play an effective role in promoting regression of these tumours. Read More

Ther Clin Risk Manag 2022 16;18:233-248. Epub 2022 Mar 16.

Department of Radiology and Medical Imaging, Emergency Pediatric Hospital, Cluj-Napoca, Romania.

Middle aortic syndrome (MAS) is a rare vascular disease representing an important cause of severe hypertension in children. MAS is characterized by segmental or diffuse narrowing of the abdominal and/or distal descending aorta with involvement of the renal and visceral branches. Most cases of MAS are idiopathic, but MAS may occur in genetic and acquired disorders. Read More

Epilepsia 2022 06 31;63(6):1530-1541. Epub 2022 Mar 31.

Columbia University Irving Medical Center, New York, New York, USA.

Objective: One of the clinical hallmarks of tuberous sclerosis complex (TSC) is radiologically identified cortical tubers, which are present in most patients. Intractable epilepsy may require surgery, often involving invasive diagnostic procedures such as intracranial electroencephalography (EEG). Identifying the location of the dominant tuber responsible for generating epileptic activities is a critical issue. Read More

Orphanet J Rare Dis 2022 03 15;17(1):124. Epub 2022 Mar 15.

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

Background: Tuberous sclerosis complex (TSC) results in neurodevelopmental phenotypes, benign tumors, and cysts throughout the body. Recent studies show numerous rare findings in TSC. Guidelines suggest routine abdominal and chest imaging to monitor these thoracoabdominal findings, but imaging is not uniformly done across centers. Read More

BMC Pulm Med 2022 Mar 5;22(1):77. Epub 2022 Mar 5.

Department of Respiratory and Critical Care Medicine, the First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China.

Background: Multifocal micronodular pneumocyte hyperplasia (MMPH) is a rare pulmonary manifestation of the tuberous sclerosis complex (TSC) with distinctive histological characteristics. Most case reports of MMPH associated with TSC usually have a history and typical clinical features (seizures, mental retardation, and skin lesions) of TSC. We present a peculiar asymptomatic MMPH case that lacked the history and typical clinical features of TSC. Read More

Acta Neuropathol Commun 2022 03 3;10(1):27. Epub 2022 Mar 3.

Duke University, 932 Morreene Rd, Durham, NC, USA.

Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder caused by mutations in the TSC1 and TSC2 genes and autosomal dominantly inherited. These mutations cause hyperactivation of the mammalian Target of Rapamycin (mTOR) pathway, leading to the development of nonmalignant masses involving various organ systems. Patients with TSC also experience neuropsychiatric symptoms collectively termed Tuberous Sclerosis Complex Associated Neuropsychiatric Disorder (TAND). Read More

Praxis (Bern 1994) 2022 ;111(3):123-129

Zentrum für Mikrotherapie, Klinik Hirslanden, Zürich.

CME-Sonography 104: Angiomyolipomas Angiomyolipomas are the most common benign kidney tumors. Approximately 80 % are spontaneously occurring tumors, the majority <1.0 cm (approximately 54 %). Read More

Graefes Arch Clin Exp Ophthalmol 2022 Mar 1. Epub 2022 Mar 1.

Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.

Purpose: Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder. Fifty percent of patients with TSC will develop retinal astrocytic hamartoma (RAH). The mammalian target of rapamycin (mTOR) inhibitors interferes with the pathological mechanisms of TSC. Read More

Pediatr Neurol 2022 04 29;129:39-45. Epub 2021 Dec 29.

Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing, China. Electronic address:

Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by epilepsy and structural abnormalities of the brain. Little research has been done to explore the relationship between the tuber brain proportion (TBP) and epilepsy. We investigated several quantitative cerebral lesions including TBP on magnetic resonance imaging (MRI) and their impact on the onset age, seizure mode, and antiseizure treatment effectiveness of epilepsy in children with TSC. Read More

Eur Heart J Case Rep 2022 Feb 11;6(2):ytac068. Epub 2022 Feb 11.

Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, M5G 1X8, Ontario, Canada.

Background: Cardiac rhabdomyoma are the most common cardiac tumour in childhood and are associated with tuberous sclerosis complex (TSC) up to 96% of infant cases. They classically manifest in the foetal and neonatal period, undergo spontaneous regression in the first years of life and are associated with arrhythmia in part due to interruption of normal conduction pathways by the tumour.

Case Summary: We present a case of a 3-year-old boy with a long-standing history of atrial ectopy who was incidentally found to be in atrial flutter due to a new, rapidly growing cardiac rhabdomyoma impacting ventricular function. Read More

J Clin Anesth 2022 06 12;78:110655. Epub 2022 Feb 12.

Service d'Anesthésie Réanimation Médecine Péri Opératoire, AP-HP, Université Paris Saclay, Hôpital Bicêtre, 78, rue du Général Leclerc, 94275 Le Kremlin Bicêtre Cedex, France. Electronic address:

Zhonghua Kou Qiang Yi Xue Za Zhi 2022 Feb;57(2):186-188

Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China.

BMJ Case Rep 2022 Feb 7;15(2). Epub 2022 Feb 7.

Urology, PGIMER, Chandigarh, India.

Neurology 2022 03 31;98(12):e1216-e1225. Epub 2022 Jan 31.

From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands; Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland; Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy; Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany; Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia; Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic; Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria; Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France; Katholieke Universiteit (L.L., J.D.R.),* Leuven; Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium; Utrecht University (W.M.O.), the Netherlands; Transition Technologies (K.S.), Warsaw, Poland; Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience; Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands; Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA; and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland.

Background And Objectives: Multiple factors have been found to contribute to the high risk of epilepsy in infants with tuberous sclerosis complex (TSC), including evolution of EEG abnormalities, gene variant, and MRI characteristics. The aim of this prospective multicenter study was to identify early MRI biomarkers of epilepsy in infants with TSC aged <6 months and before seizure onset, and associate these MRI biomarkers with neurodevelopmental outcomes at 2 years of age. The study was part of the EPISTOP project. Read More