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NMR Biomed 2021 Jun 1:e4565. Epub 2021 Jun 1.

State Key Laboratory of Brain and Cognitive Science, Beijing MRI Center for Brain Research, Institute of Biophysics, Chinese Academy of Sciences, Beijing, China.

Few in vivo studies have focused on the perivenous association of tubers and iron deposition in the deep gray nuclei in patients with tuberous sclerosis complex (TSC). We investigated this possible relationship in TSC patients using susceptibility weighted imaging (SWI) at 7 T. SWI with high spatial resolution and enhanced sensitivity was performed on 11 TSC patients in comparison with 15 age- and sex-matched healthy controls. Read More

J Int Med Res 2021 May;49(5):3000605211016761

Department of Respiratory Disease, Thoracic Disease Centre, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang Province, China.

is a rare dimorphic pathogenic fungus that can induce severe infections in human immunodeficiency virus (HIV)-infected patients. However, such infections have also been reported in non-HIV hosts. This current case report describes a very rare case of a pulmonary infection in an HIV-negative patient with a mutation in the tuberous sclerosis complex subunit 2 () gene. Read More

NMR Biomed 2021 May 27:e4563. Epub 2021 May 27.

Key Laboratory for Biomedical Engineering of Ministry of Education, Department of Biomedical Engineering, College of Biomedical Engineering & Instrument Science, Zhejiang University, Hangzhou, Zhejiang, China.

The homeostasis of various metabolites is impaired in epilepsy secondary to the tuberous sclerosis complex (TSC). Chemical exchange saturation transfer (CEST) imaging is an emerging molecular MRI technique that can detect various metabolites and proteins in vivo. However, the role of CEST imaging for TSC-associated epilepsy has not been assessed. Read More

World J Gastroenterol 2021 May;27(19):2299-2311

Department of Hepatology, Jean Minjoz University Hospital, Besançon 25030, France.

First reported in 1976, hepatic angiomyolipoma (HAML) is a rare mesenchymal liver tumor occurring mostly in middle-aged women. Diagnosis of the liver mass is often incidental on abdominal imaging due to the frequent absence of specific symptoms. Nearly 10% of HAMLs are associated with tuberous sclerosis complex. Read More

Surg Oncol 2021 May 5;38:101600. Epub 2021 May 5.

Dept. of Surgery, UMC Utrecht Cancer Center and Regional Academic Cancer Center Utrecht (RAKU), Postal Address: G.04.228, the Netherlands. Electronic address:

Introduction: Over the past decade, robotic pancreatic surgery has gained popularity. Although anatomically comparable, the small size of pediatric patients might impede the use of the surgical robot due to the size of the robotic arms. Pediatric pancreatic resection is rarely indicated, hence only few cases of pediatric robotic pancreatic resection have been described (Hagendoorn et al. Read More

J Am Coll Radiol 2021 May;18(5S):S199-S211

Specialty Chair, Riley Hospital for Children Indiana University, Indianapolis, Indiana.

In children, seizures represent an extremely heterogeneous group of medical conditions ranging from benign cases, such as a simple febrile seizure, to life-threatening situations, such as status epilepticus. Underlying causes of seizures also represent a wide range of pathologies from idiopathic cases, usually genetic, to a variety of acute and chronic intracranial or systemic abnormalities. This document discusses appropriate utilization of neuroimaging tests in a child with seizures. Read More

Ann R Coll Surg Engl 2021 Jun 6;103(6):e184-e188. Epub 2021 May 6.

Maulana Azad Medical College, New Delhi, India.

Angiomyolipoma is a benign solid renal neoplasm. A giant angiomyolipoma is more than 10cm by size, but it can grow to huge proportions. Our case appears to be the third largest angiomyolipoma and the largest among bilateral giant renal angiomyolipoma in the indexed literature. Read More

SA J Radiol 2021 30;25(1):2034. Epub 2021 Mar 30.

Department of Radiology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome that is characterised by hamartomas in multiple organs, the characteristic imaging features of which are illustrated in this case report. Angiomyolipoma (AML) is the most common renal manifestation of TSC, which may present with life-threatening haemorrhage at the time of diagnosis. Interventional management with selective renal embolisation is currently the treatment of choice for the safe and effective management of ruptured renal AML. Read More

Radiol Clin North Am 2021 May;59(3):471-500

Department of Radiology and Medical Imaging, University of Virginia Health System, 1215 Lee Street, Charlottesville, VA 22903, USA. Electronic address:

Tumor predisposition syndromes represent a heterogeneous group of multiorgan disorders, with many having substantial central nervous system involvement. This article highlights the common and uncommon manifestations of these syndromic disorders, the underlying genetic pathways, and the imaging findings. Radiologists must be aware of the diagnostic criteria, optimal imaging techniques (both for diagnosis and surveillance), as well as the innumerable imaging manifestations of these syndromes. Read More

Front Neurol 2021 9;12:627672. Epub 2021 Apr 9.

Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, United States.

Tuberous sclerosis complex (TSC) is a genetic condition that causes benign tumors to grow in multiple organ systems. Nonfunctional pancreatic neuroendocrine tumors (PNETs) are a rare clinical feature of TSC with no specific guidelines outlined for clinical management at this time. Our purpose is to calculate the frequency of nonfunctional PNETs as well as characterize the presentation, current clinical management, and assess the impact of systemic mammalian target of rapamycin (mTOR) on nonfunctional PNETs in TSC. Read More

Ethiop J Health Sci 2020 Jul;30(4):639-642

Addis Ababa university , College of Health sciences, Pediatric neurology unit. Cellphone- 0911406533, email: Addis Ababa Ethiopia.

Background: Neonatal tuberous sclerosis complex is an autosomal dominant inherited disease characterized by high rate of neurological, cardiac and skin manifestations.

Case Presentation: We reported a 4 days old female neonate with respiratory distress, tachypnea, tachycardia and hypomelanotic macular lesions. Her chest X-ray and echocardiographic studies revealed cardiomegaly and multiple echogenic masses in the left and right ventricles, suggestive of cardiac rhabdomyoma. Read More

BMC Surg 2021 Apr 20;21(1):202. Epub 2021 Apr 20.

Department of Gastrointestinal Surgery, Peking University Shenzhen Hospital, Shenzhen, 518036, Guangdong, People's Republic of China.

Background: Gastrointestinal stromal tumors rarely occur in children, but when they do, their biological behavior and histopathological patterns differ from those of adults.

Case Presentation: A 13-year-old boy with a gastrointestinal stromal tumor was characterized by a rare genetic mutation. The patient complained of "fatigue with intermittent abdominal pain for 1 month". Read More

Bratisl Lek Listy 2021 ;122(5):315-319

Objective: Primary foetal cardiac tumours are rare congenital malformations. They can cause a flow obstruction, arrhythmias and can lead to cardiac failure, hydrops or death. Postnatal management is based on patient´s clinical and hemodynamic impairment. Read More

Genet Med 2021 Apr 8. Epub 2021 Apr 8.

Pediatric and Fetal Imaging Department, Hospices Civils de Lyon, Bron, France.

Purpose: Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary skin phenotype and clinical spectrum of neurodevelopmental manifestations of MTOR-related HI. Read More

Balkan J Med Genet 2020 Nov 23;23(2):93-98. Epub 2021 Mar 23.

University Clinic of Nephrology, Skopje, Republic of North Macedonia.

Tuberous sclerosis complex (TSC) is an autosomal-dominant multi system disorder. The genetic basis of the disorder is mutations in the or gene, which leads to over activation of the mammalian target of rapamycin (mTOR) protein complex and results in development of benign tumors in different body systems such as brain, skin, lungs and kidney. The mTOR inhibitors are presently the main treatment option for patients with TSC. Read More

Neurosciences (Riyadh) 2021 Apr;26(2):207-211

From the Department of Neuroscience, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder that is characterized by multiple dome-shaped cutaneous venous malformations on the skin and visceral organs. Typical extra-cutaneous lesions have the appearance of blueish nipple-shaped nodules that can easily compress and refill. We described a rare case of a 23-year-old female with BRBNS and tuberous sclerosis complex (TSC) that presented with central nervous system (CNS) involvement including unprovoked focal impaired awareness seizure. Read More

Seizure 2021 May 25;88:45-52. Epub 2021 Mar 25.

Department of Neurosurgery, Center of Epilepsy, Sanbo Brain Hospital, Capital Medical University, XiangshanYikesong 50, Haidian District, Beijing 100093, China. Electronic address:

Objective: To identify prognostic factors and long-term seizure outcomes for patients with tuberous sclerosis complex (TSC) who underwent resective treatment for epilepsy.

Methods: We enrolled 81 patients with TSC who had undergone resective epilepsy surgery at Sanbo Brain Hospital, Capital Medical University, between April 2004 and June 2019. We estimated cumulative probability of remaining seizure-free and plotted survival curves. Read More

Neuropathol Appl Neurobiol 2021 Apr 2. Epub 2021 Apr 2.

Developmental Biology and Cancer Research & Teaching Department, UCL Great Ormond Street Institute of Child Health, London, UK.

Aims: We understand little of the pathogenesis of developmental cortical lesions, because we understand little of the diversity of the cell types that contribute to the diseases or how those cells interact. We tested the hypothesis that cellular diversity and cell-cell interactions play an important role in these disorders by investigating the signalling molecules in the commonest cortical malformations that lead to childhood epilepsy, focal cortical dysplasia (FCD) and tuberous sclerosis (TS).

Methods: Transcriptional profiling clustered cases into molecularly distinct groups. Read More

J Int Med Res 2021 Mar;49(3):3000605211001710

Department of Urology, The First Hospital of Jilin University, Changchun, Jilin, P.R. China.

Angiomyolipoma (AML) is a benign tumor that mainly occurs in the kidneys. Simultaneous involvement of the kidney and local regional lymph nodes is very rare and might be misdiagnosed as a metastasizing malignant cancer. In the present study, a 50-year-old woman was referred to our hospital after a routine health screening ultrasound. Read More

Radiol Imaging Cancer 2020 09 18;2(5):e190091. Epub 2020 Sep 18.

Department of Pediatric Neurology, Diakonie Kork, Kehl, Germany (C.R.); Department of Radiology (L.A.G., A.T.T., A.J.T.), Division of Neurology (D.A.K., D.N.F.), and Division of Biostatistics and Epidemiology (B.Z.), Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, MLC 5031, Cincinnati, OH 45229; and Departments of Radiology (A.T.T., A.J.T.) and Pediatrics (D.A.K., D.N.F., B.Z.), University of Cincinnati College of Medicine, Cincinnati, Ohio.

Purpose: To determine the effect of chronic mammalian target of rapamycin (mTOR) inhibition on skeletal muscle mass in patients with tuberous sclerosis complex (TSC).

Materials And Methods: In this retrospective study, patients with TSC who were taking mTOR inhibitors and who underwent at least two abdominal CT or MRI examinations between 2005 and 2017 were included ( = 24; 14 males; mean age, 14.5 years ± 7. Read More

Medicine (Baltimore) 2021 Mar;100(12):e25277

Division of Pediatrics Neurology, China Medical University, Children's Hospital.

Abstract: Drug-resistant epilepsy (DRE) affects 7% to 20% of children with epilepsy. Although some risk factors for DRE have been identified, the results have not been consistent. Moreover, data regarding the risk factors for epilepsy and its seizure outcome in the first 2 years of life are limited. Read More

Jpn J Radiol 2021 Mar 23. Epub 2021 Mar 23.

Department of Radiology, Okayama University Hospital, 2-5-1 Shikata-cho, Okayama, 700-8558, Japan.

More than 10 hereditary renal tumor syndromes (HRTSs) and related germline mutations have been reported with HRTS-associated renal and extrarenal manifestations with benign and malignant tumors. Radiologists play an important role in detecting solitary or multiple renal masses with or without extrarenal findings on imaging and may raise the possibility of an inherited predisposition to renal cell carcinoma, providing direction for further screening, intervention and surveillance of the patients and their close family members before the development of potentially lethal renal and extrarenal tumors. Renal cell carcinomas (RCCs) associated with von Hippel-Lindau disease are typically slow growing while RCCs associated with HRTSs, such as hereditary leiomyomatosis and renal cell carcinoma syndrome, are highly aggressive. Read More

Semin Ophthalmol 2021 Mar 23:1-12. Epub 2021 Mar 23.

NESMOS Department, Ophthalmology Unit, St. Andrea Hospital, University of Rome La Sapienza, Rome, Italy.

Background: Neurofibromatosis, Von Hippel Lindau disease, and tuberous sclerosis complex are classified under the term phakomatoses. They are characterized by ocular vascular abnormalities such as vascular tortuosity, corkscrew retinal vessel configuration, moyamoya-like aspect, microaneurysms, hemangioblastomas, and focal sheathing of retinal arteries, possibly due to abnormal formation, migration, and differentiation of neural crest cells. These alterations can be the first sign or the hallmark of disease and can be related to vasoproliferative tumors. Read More

Expert Rev Neurother 2021 Mar 31:1-13. Epub 2021 Mar 31.

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

: Malformation of cortical development (MCD) is strongly associated with drug-resistant epilepsies for which surgery to remove epileptogenic lesions is common. Two notable technological advances in this field are identification of the underlying genetic cause and techniques in neuroimaging. These now question how presurgical evaluation ought to be approached for 'mTORpathies. Read More

World J Clin Cases 2021 Mar;9(8):1931-1939

Department of Radiology, Shandong Medical Imaging Research Institue, Cheeloo College of Medicine, Shandong University, Jinan 250021, Shandong Province, China.

Background: Angiomyolipomas (AMLs), belonging to the family of mesenchymal tumors, are considered benign lesions that occur mostly in the kidney or as a part of tuberous sclerosis. Epithelioid AML (EAML) is a rare type of AML that appears to have malignant potential. Extrarenal AMLs usually occur in the liver according to the retrieved literature reports. Read More

Am J Ophthalmol Case Rep 2021 Jun 26;22:101050. Epub 2021 Feb 26.

Department of Ophthalmology, Rigshospitalet, Glostrup, Denmark.

Purpose: To describe the finding of bright hyperautofluorescent streaks in the peripheral retina in tuberous sclerosis.

Observations: A woman with a pathogenic TSC1 mutation and cutaneous manifestations of tuberous sclerosis underwent fundus examination and was found to have a cluster of thin, yellowish streaks in the inferior peripheral fundus of her left eye. The streaks were hyperautofluorescent in blue light and associated with irregular thickening of the photoreceptor-pigment epithelium complex on optical coherence tomography. Read More

J Radiol Case Rep 2021 Feb 28;15(2):1-6. Epub 2021 Feb 28.

Department of Radiology, Children's of Alabama, Birmingham, Alabama, USA.

Vigabatrin therapy is commonly used in infants diagnosed with tuberous sclerosis complex, particularly in the setting of epilepsy. Utilization of vigabatrin can result in bilateral and symmetric abnormal sequence changes within the deep brain matter and brainstem on magnetic resonance imaging. These abnormalities occur predominantly in infancy, are reversible, and can be asymptomatic or result in symptomatic clinical manifestations. Read More

Eur Radiol 2021 Mar 10. Epub 2021 Mar 10.

Department of Radiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No. 1 Shuaifuyuan, Dongcheng District, Beijing, 100730, People's Republic of China.

Objectives: To investigate the usefulness of neurite orientation dispersion and density imaging (NODDI) in evaluating cortical tubers, especially epileptogenic tubers in tuberous sclerosis complex (TSC) patients.

Methods: High-resolution conventional MRI and multi-shell diffusion-weighted imaging were performed in 27 TSC patients. Diffusion images were fitted to NODDI and DTI models. Read More

J Trop Pediatr 2021 01;67(1)

Children's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China.

Objective: We describe the clinical and genetic features, drug use and neuropsychiatric disorders of infants diagnosed with tuberous sclerosis complex (TSC) within 3 months of age at a neonatal intensive care unit (NICU) to better understand the different outcomes from early screening.

Methods: In this retrospective study, we consisted of 42 infants with a definitive TSC diagnosis by genetic criteria (TSC1 = 8, TSC2 = 34). The different phenotypes and outcomes between patients with TSC1 and TSC2 mutations were analyzed. Read More

Epilepsy Res 2021 Mar 8;171:106572. Epub 2021 Feb 8.

Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia; Clinical Sciences, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia. Electronic address:

Our previous studies suggest the tuber center is the seizure focus in tuberous sclerosis complex (TSC). We report findings from 5 epilepsy surgeries in 4 children with TSC and focal motor seizures from single tubers in primary sensorimotor cortex in which resection was limited to the cortex in the tuber center. Intraoperative electrocorticography showed epileptiform activity in the tuber center, with or without propagation to the tuber rim and surrounding perituberal cortex. Read More