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Ideggyogy Sz 2019 Mar;72(3-4):131-133

Bakirkoy Prof. Dr. Mazhar Osman Education and Research Hospital For Neuropsychiatry, Neurology Clinic, İstanbul, Turkey.

Sturge Weber syndrome is the third most common neurocutaneous syndrome after neurofibromatosis and tuberous sclerosis. Three distinct types were identified. Type 3 with leptomeningeal involvement alone is the rarest among other types. Read More

Clin Genitourin Cancer 2019 Feb 13. Epub 2019 Feb 13.

Department of Diagnostic Radiology, University of Illinois at Chicago, Chicago, IL. Electronic address:

BMJ Case Rep 2019 Feb 25;12(2). Epub 2019 Feb 25.

Department of Cellular Pathology, New Cross Hospital, Wolverhampton, UK.

Lymphangioleiomyomatosis (LAM) is a rare disease that typically affects women of childbearing age. It most commonly affects the lungs (P-LAM) but can occasionally occur in extra-pulmonary sites (E-LAM). There is a strong association between LAM and the tuberous sclerosis complex (TSC). Read More

Abdom Radiol (NY) 2019 Apr;44(4):1256-1260

Department of Radiology, University of Tsukuba Hospital, 2-1-1 Amakubo, Tsukuba, Ibaraki, 305-8576, Japan.

Tuberous sclerosis complex (TSC), a rare autosomal dominant neurocutaneous disorder, is characterized by the presence of benign congenital tumors in multiple organs. Neoplasms with perivascular epithelioid cell differentiation (PEComas), including angiomyolipoma (AML) and lymphangioleiomyomatosis (LAM), can occur in association with TSC. This report describes two cases of uterine PEComas presenting characteristic MR imaging features reflecting pathological findings. Read More

Zhonghua Er Ke Za Zhi 2019 Feb;57(2):148-150

Center of Epilepsy, Shenzhen Children's Hospital, Shenzhen 518026, China.

Rev Neurol (Paris) 2019 Mar 25;175(3):163-182. Epub 2019 Jan 25.

Lyon's Neuroscience Research Center, Inserm U1028/CNRS UMR 5292, 69003 Lyon, France; Department of Functional Neurology and Epileptology, Hospices Civils de Lyon and Lyon 1 University, 69003 Lyon, France.

Medically treated patients suffering from tuberous sclerosis complex (TSC) have less than 30% chance of achieving a sustained remission. Both the international TSC consensus conference in 2012, and the panel of European experts in 2012 and 2018 have concluded that surgery should be considered for medically refractory TSC patients. However, surgery remains currently underutilized in TSC. Read More

Childs Nerv Syst 2019 Mar 23;35(3):463-468. Epub 2019 Jan 23.

Department of Biostatistics, Cukurova University, Adana, Turkey.

Purpose: We aimed to determine the characteristics of epileptic seizures that significantly affect the cognitive functions of 83 patients followed with tuberous sclerosis complex (TSC), their resistance to treatment and risk factors causing this resistance.

Materials-methods: In order to determine the prognosis, the seizure-free/seizure-controlled group and the group with refractory seizures were compared. In addition, risk factors affecting cognitive functions in the patients were determined. Read More

Acta Radiol Open 2018 Dec 6;7(12):2058460118806328. Epub 2018 Dec 6.

Department of Advanced Biomedical Sciences, University "Federico II," Naples, Italy.

Tuberous sclerosis (TS) is a relatively rare multi-organ disorder generally diagnosed in infancy and described as a clinical triad of sebaceous adenoma, mental retardation, and seizures. Angiomyolipoma (AML) is the most common benign renal tumor usually found incidentally as a solitary small echogenic lesion on grayscale ultrasound. Less commonly, it is part of the TS complex and is seen as multiple lesions in both kidneys. Read More

Radiology 2019 Mar 1;290(3):769-782. Epub 2019 Jan 1.

From the Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics, Medical Center-University of Freiburg, Mathildenstr 1, 79106 Freiburg, Germany (C.G.); Department of Pediatric Radiology, Jeanne de Flandre Mother and Child Hospital, University of Lille, Lille, France (E.F.A.); Department of Pediatric Radiology, University Hospital of Leuven, Leuven, Belgium (L.B.); Department of Pediatrics, University Hospital of Cologne, Cologne, Germany (K.B.); Department of Bioengineering, IRCCS Mario Negri Institute for Pharmacological Research, Bergamo, Italy (A.C.); Department of Pediatrics II, University Hospital Essen, Essen, Germany (M.C.); Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany (D.H., D.F., L.P.); Division of Nephrology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pa (E.A.H.); Department of General Pediatrics, University Children's Hospital, Münster, Germany (J.K., A.T.); Department of Pediatrics and Center for Molecular Medicine, University Hospital of Cologne, Cologne, Germany (M.C.L.); Department of Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium (D.M.); PKD Research Group, Laboratory of Pediatrics, Department of Development and Regeneration, GPURE, KU Leuven, Leuven, Belgium (D.M.); PKD Research Group, Department of Development and Regeneration, Catholic University Leuven (KU Leuven), Leuven, Belgium (D.M.); Academic Nephrology Unit, Department of Infection Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, England (A.C.M.O.); Department of Nephrology, Fundació Puigvert, Autonomous University of Barcelona, IIB Sant Pau, REDINREN, Barcelona, Spain (R.T.); University College London Great Ormond Street, Institute of Child Health, London, England (P.J.D.W.); and Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany (F.S.).

Kidney cysts can manifest as focal disease (simple and complex kidney cysts), affect a whole kidney (eg, multicystic dysplastic kidney or cystic dysplasia), or manifest as bilateral cystic disease (eg, autosomal recessive polycystic kidney disease [ARPKD] or autosomal dominant polycystic kidney disease [ADPKD]). In children, as opposed to adults, a larger proportion of kidney cysts are due to genetic diseases (eg, HNF1B nephropathy, various ciliopathies, and tuberous sclerosis complex), and fewer patients have simple cysts or acquired cystic kidney disease. The purpose of this consensus statement is to provide clinical guidance on standardization of imaging tests to evaluate kidney cysts in children. Read More

J Magn Reson Imaging 2019 May 23;49(5):1333-1346. Epub 2018 Dec 23.

Epilepsy Center, Cleveland Clinic, Cleveland, Ohio, USA.

Background: Conventional MRI can be limited in detecting subtle epileptic lesions or identifying active/epileptic lesions among widespread, multifocal lesions.

Purpose: We developed a high-resolution 3D MR fingerprinting (MRF) protocol to simultaneously provide quantitative T , T , proton density, and tissue fraction maps for detection and characterization of epileptic lesions.

Study Type: Prospective. Read More

Top Magn Reson Imaging 2018 Dec;27(6):433-462

Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.

Phakomatoses, also known as neurocutaneous disorders, comprise a vast number of entities that predominantly affect structures originated from the ectoderm such as the central nervous system and the skin, but also the mesoderm, particularly the vascular system. Extensive literature exists about the most common phakomatoses, namely neurofibromatosis, tuberous sclerosis, von Hippel-Lindau and Sturge-Weber syndrome. However, recent developments in the understanding of the molecular underpinnings of less common phakomatoses have sparked interest in these disorders. Read More

J Investig Med 2019 Mar 18;67(3):686-690. Epub 2018 Nov 18.

School of Medicine, Chung Shan Medical University, Taichung, Taiwan.

Tuberous sclerosis complex (TSC) is a rare disease that causes multisystem benign neoplasm, induced by dysregulation of the mammalian target of the rapamycin pathway (mTOR). This study aimed to examine the effects of continuous low-dose everolimus, a potent and selective inhibitor of mTOR, on the treatment of TSC-associated renal angiomyolipoma (AML). Between July 2013 and August 2017, 11 patients with TSC-AML were enrolled for an everolimus therapy protocol. Read More

Pediatr Neurol 2019 Jan 18;90:24-30. Epub 2018 Oct 18.

Department of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Objective: We studied the longitudinal effects of everolimus, an inhibitor of the mammalian target of rapamycin (mTOR), on callosal white matter diffusion tensor imaging (DTI) in patients with tuberous sclerosis complex (TSC).

Methods: Serial imaging data spanning nine years were used from the open label, Phase I/II trial (NCT00411619) and open-ended extension phase of everolimus for the treatment of subependymal giant cell astrocytoma associated with TSC. From 28 patients treated with everolimus and 25 untreated control patients, 481 MRI scans were available. Read More

BMJ Case Rep 2018 Nov 8;2018. Epub 2018 Nov 8.

Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Lymphangioleiomyomatosis (LAM) either sporadic or a part of tuberous sclerosis complex is rare in paediatric age group. Here, we report a case of LAM with tuberous sclerosis in an infant. She was referred to our institute at the age of 4 months as a case of recurrent bilateral pneumothorax requiring intercostal tube drainage. Read More

Ophthalmic Surg Lasers Imaging Retina 2018 10;49(10):812-814

A 12-year-old male presented for evaluation of asymptomatic bilateral retinal tumors. Both eyes contained whitish-gray retinal tumors with intralesional calcifications. Enhanced depth optical coherence tomography and high-resolution (20 MHz) ultrasonography narrowed the differentiation diagnosis to astrocytic hamartoma versus retinocytoma. Read More

EMBO J 2018 Nov 22;37(22). Epub 2018 Oct 22.

Department of Biology, University of Virginia, Charlottesville, VA, USA

The mechanisms of mitochondrial dysfunction in Alzheimer's disease are incompletely understood. Using two-photon fluorescence lifetime microscopy of the coenzymes, NADH and NADPH, and tracking brain oxygen metabolism with multi-parametric photoacoustic microscopy, we show that activation of lysosomal mechanistic target of rapamycin complex 1 (mTORC1) by insulin or amino acids stimulates mitochondrial activity and regulates mitochondrial DNA synthesis in neurons. Amyloid-β oligomers, which are precursors of amyloid plaques in Alzheimer's disease brain and stimulate mTORC1 protein kinase activity at the plasma membrane but not at lysosomes, block this Nutrient-induced Mitochondrial Activity (NiMA) by a mechanism dependent on tau, which forms neurofibrillary tangles in Alzheimer's disease brain. Read More

Epilepsy Behav 2018 11 7;88:357-364. Epub 2018 Oct 7.

Erciyes University Medical School, Department of Pediatrics, Division of Pediatric Neurology, Talas, Kayseri, Turkey. Electronic address:

Purpose: The purpose of this study was to evaluate the long-term results of eight cases diagnosed with tuberous sclerosis complex (TSC) and receiving rapamycin therapy because of epileptic seizures and/or accompanying TSC findings.

Method: Rapamycin therapy was initiated at a dose of 1.5 mg/m. Read More

Cell Rep 2018 Oct;25(2):357-367.e4

F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

Despite a prevalence exceeding 1%, mechanisms underlying autism spectrum disorders (ASDs) are poorly understood, and targeted therapies and guiding parameters are urgently needed. We recently demonstrated that cerebellar dysfunction is sufficient to generate autistic-like behaviors in a mouse model of tuberous sclerosis complex (TSC). Here, using the mechanistic target of rapamycin (mTOR)-specific inhibitor rapamycin, we define distinct sensitive periods for treatment of autistic-like behaviors with sensitive periods extending into adulthood for social behaviors. Read More

Medicine (Baltimore) 2018 Oct;97(40):e12602

Department of Diagnostic and Therapeutic Neuroradiology, Centre Hospitalier Universitaire (CHU) - Hôpital Pierre Paul Riquet, University of Toulouse, Toulouse, France.

To report our preliminary experience with cerebral fetal magnetic resonance imaging (MRI) with a 3 Tesla (3T) scanner. We assessed feasibility, time of acquisition, and possibility to establish a diagnosis.Fifty-nine pregnant women had fetal MRI performed during the third trimester of pregnancy due to clinical or sonography concern of a central nervous system anomaly. Read More

Eur J Paediatr Neurol 2018 Nov 12;22(6):1027-1034. Epub 2018 Sep 12.

1st Department of Pediatrics, Developmental Center "A. Fokas", Aristotle University of Thessaloniki, "Hippokratio" General Hospital, Thessaloniki, Greece. Electronic address:

Tuberous sclerosis complex is a dominantly inherited genetic disorder of striking clinical variability. It is caused by mutations in either TSC1 or TSC2 gene, which regulate cell growth and proliferation by inhibition of mTORC1 signaling. TS is characterized by the development of benign tumors in many tissues and organs and its neurological manifestations include epilepsy, autism, cognitive and behavioral dysfunction, and giant cell tumors. Read More

Am J Med Genet C Semin Med Genet 2018 Sep 19;178(3):291-298. Epub 2018 Sep 19.

Department of Neurosurgery, Baylor College of Medicine, Houston, Texas.

Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal-dominant genetic syndrome marked by development of hamartomatous lesions arising from dysfunction of the mammalian target of rapamycin (mTOR) pathway. Although TSC remains a heterogeneous clinical entity, the recent inclusion of genetic diagnostic criteria reflects advancement in our understanding of its underlying etiopathogenesis. Abnormal cellular growth, differentiation, and migration result in multisystem sequelae, with neurologic manifestations of TSC representing the primary cause of morbidity and mortality for the majority of individuals. Read More

BMJ Case Rep 2018 Sep 15;2018. Epub 2018 Sep 15.

Department of Ophthalmology, JIPMER, Puducherry, India.

A 9-month-old male child with tuberous sclerosis complex presented with ash-leaf macules on the left periocular region and ipsilateral dense cataract. Fundus showed retinal astrocytic hamartomas. This case is reported for unilaterality of congenital cataract on the same side of eyelid ash-leaf macule in tuberous sclerosis. Read More

Skeletal Radiol 2018 Sep 11. Epub 2018 Sep 11.

Division of Musculoskeletal Imaging and Intervention, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Yawkey 6E, 55 Fruit Street, Boston, MA, 02114, USA.

Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms composed of perivascular epithelioid cells that are immunoreactive for both melanocytic and myogenic markers. Recently, a fibroma-like PEComa associated with tuberous sclerosis complex (TSC) has been identified. We describe the first intra-articular case of a fibroma-like PEComa in a 44-year-old man who presented with a hypointense intra-articular knee mass, which was mistaken for tenosynovial giant cell tumor, diffuse type. Read More

Sci Rep 2018 Sep 6;8(1):13373. Epub 2018 Sep 6.

Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, 94143, USA.

Tuberous sclerosis complex (TSC), a heritable neurodevelopmental disorder, is caused by mutations in the TSC1 or TSC2 genes. To date, there has been little work to elucidate regional TSC1 and TSC2 gene expression within the human brain, how it changes with age, and how it may influence disease. Using a publicly available microarray dataset, we found that TSC1 and TSC2 gene expression was highest within the adult neo-cerebellum and that this pattern of increased cerebellar expression was maintained throughout postnatal development. Read More

J Coll Physicians Surg Pak 2018 Sep;28(9):S160-S161

Department of Radiology, Civil Hospital and Dow University of Health Sciences, Karachi.

Large aneurysms seen in renal angiomyolipoma are usually more common in patients with tuberous sclerosis in comparison with sporadic cases and they are more prone to hemorrhage ranging from renal hematoma to life-threatening perirenal hemorrhages. We present a case of 13-year female patient who was referred to Civil Hospital, Karachi, with bilateral flank pain, cutaneous nodule and low intelligence. Her color doppler ultrasound revealed pseudoaneurysm in left kidney on the background of bilateral renal angiomyolipomas. Read More

Beijing Da Xue Xue Bao Yi Xue Ban 2018 Aug;50(4):717-721

Department of Urology, Peking University People's Hospital, Beijing 100044, China.

Renal angiomyolipoma (AML) is a common benign tumor in the urinary system, mainly composed of adipose tissue, blood vessels and muscle tissue. Renal AML is sporadic in most of patients, while a few are associated with tuberous sclerosis. Classical renal AML occurs predominantly in middle-aged females. Read More

Pediatr Neurosurg 2018 15;53(5):322-329. Epub 2018 Aug 15.

Division of Neurosurgery, Children's National Medical Center, Washington, District of Columbia, USA.

Introduction: MR-guided laser interstitial thermal therapy (MRgLITT) has emerged as a safe and effective treatment option for the ablation of epileptic foci. Its minimally invasive nature makes it attractive due to decreased morbidity and hospital stay.

Objective: To report the efficacy and safety of MRgLITT as a minimally invasive procedure for the ablation of epileptic foci in the pediatric population of medically refractory lesional epilepsy. Read More

Int Urol Nephrol 2018 Oct 12;50(10):1765-1770. Epub 2018 Aug 12.

Department of Interventional Radiology and Vascular Surgery, Peking University First Hospital, 8 Xishiku St, Beijing, 100034, People's Republic of China.

Purpose: To evaluate the efficacy of prophylactic selective arterial embolization (SAE) of angiomyolipomas (AMLs) and to find out predictive factors of significant shrinkage of AMLs after SAE.

Methods: Patients receiving prophylactic SAE for renal AMLs with complete medical records were included. The changes of the size, urine erythrocyte counts, and serum creatinine of all patients pre- and post-embolization were assessed. Read More

Am J Respir Cell Mol Biol 2018 Dec;59(6):723-732

3 Penn Center for Pulmonary Biology, Pulmonary, Allergy and Critical Care Division, and.

Pulmonary lymphangioleiomyomatosis (LAM) is a slow-progressing metastatic disease that is driven by mutations in the tumor suppressor tuberous sclerosis complex 1/2 (TSC1/2). Rapamycin inhibits LAM cell proliferation and is the only approved treatment, but it cannot cause the regression of existing lesions and can only stabilize the disease. However, in other cancers, immunotherapies such as checkpoint blockade against PD-1 and its ligand PD-L1 have shown promise in causing tumor regression and even curing some patients. Read More

J Pediatr Neurosci 2018 Apr-Jun;13(2):224-228

Department of Child Neuropsychiatry, Riuniti Hospital of Foggia, Italy.

An 8-year-old girl was admitted during the night in our emergency department for an acute episode of seizures. The patient underwent computed-tomography (CT) brain scan (Toshiba ® Aquilion 64-TSX-101A/HC) and magnetic resonance imaging (MRI) brain scan (Philips® Achieva 1.5T). Read More

Pediatr Radiol 2018 08 4;48(9):1307-1323. Epub 2018 Aug 4.

Department of Radiology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., MLC 5031, Cincinnati, OH, 45229, USA.

Imaging of tuberous sclerosis complex has rapidly evolved over the last decade in association with increased understanding of the disease process and new treatment modalities. Tuberous sclerosis complex is best known for the neurological symptoms and the associated neuroimaging findings, and children with tuberous sclerosis complex require active surveillance of associated abnormalities in the chest, abdomen and pelvis. Common findings that require regular imaging surveillance are angiomyolipomas in the kidneys and lymphangioleiomyomatosis in the chest. Read More

Brain Dev 2019 Jan 1;41(1):116-120. Epub 2018 Aug 1.

Facility Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Japan.

Purpose: Tuberous sclerosis complex (TSC) is a leading cause of epilepsy, with seizures affecting almost 80-90% of children. We used the concordance between magnetic resonance imaging (MRI) and dense array electroencephalography (dEEG) findings to detect epileptic focus in a patient with TSC.

Methods: A 9-year-old boy with TSC exhibited daily choking spells. Read More

Transplant Proc 2018 Jul - Aug;50(6):1904-1909. Epub 2018 Mar 15.

Department of Urology, Medical University of Gdańsk, Gdańsk, Poland.

Mammalian target of rapamycin inhibitors (mTORI) are increasingly used in the treatment of tuberous sclerosis complex (TSC) and as immunosuppressants after organ transplantation. In TSC patients, mTORI are the treatment of choice after kidney transplantation. It is still under debate if benefits from long-term mTORI use will not be limited by side effects. Read More

Clin Cancer Res 2018 Dec 27;24(23):5925-5938. Epub 2018 Jul 27.

Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

Purpose: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by inactivating mutations of the or gene, characterized by neurocognitive impairment and benign tumors of the brain, skin, heart, and kidneys. Lymphangioleiomyomatosis (LAM) is a diffuse proliferation of α-smooth muscle actin-positive cells associated with cystic destruction of the lung. LAM occurs almost exclusively in women, as a TSC manifestation or a sporadic disorder ( somatic mutations). Read More

Pan Afr Med J 2018 13;29:147. Epub 2018 Mar 13.

Service de Dermatologie-vénérologie, Hôpital Militaire d'Instruction Mohammed V, Rabat, Maroc.

Tuberous sclerosis complex (TSC) is a neurocutaneous multisystemic syndrome most commonly affecting the skin, the brain, the kidneys, the lungs and the eyes. The diagnosis is based on clinical characteristics; 90% of patients have skin lesions and seizures are the initial symptom in 80% of patients. Patients with STB often show a high incidence of neuropsychiatric symptoms, including mental retardation, autism and learning difficulties. Read More

J Belg Soc Radiol 2018 Apr 20;102(1):41. Epub 2018 Apr 20.

University Hospitals Leuven, BE.

Angiomyolipomas (AMLs) are the most common benign renal tumours. Most of these neoplasms are found incidentally on imaging. However, symptomatic presentation does exist. Read More

Medicine (Baltimore) 2018 Jul;97(29):e11533

Department of Pediatric Neurology and Gastroenterology, West China Second University Hospital.

Rationale: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder. The TSC1 and TSC2 genes have been identified as pathogenic genes.

Patient Concerns: In this report, we are discussing a novel frameshift mutation and a novel missense mutation in the TSC2 gene. Read More

J Natl Cancer Inst 2019 Mar;111(3):256-263

Department of Epidemiology and Biostatistics, Netherlands Cancer Institute, Amsterdam, the Netherlands.

Background: Computed tomography (CT), a strong diagnostic tool, delivers higher radiation doses than most imaging modalities. As CT use has increased rapidly, radiation protection is important, particularly among children. We evaluate leukemia and brain tumor risk following exposure to low-dose ionizing radiation from CT scans in childhood. Read More

Pediatr Nephrol 2018 Nov 9;33(11):2085-2093. Epub 2018 Jul 9.

Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

Background: Renal pathology in tuberous sclerosis complex (TSC) is characterized by the growth of angiomyolipoma and renal cysts, and in rare cases renal cell carcinoma. Other consequences of renal involvement in TSC, including hypertension, proteinuria, and hyperfiltration, are not well studied. We aimed to analyze the early manifestations of the renal TSC phenotype in a young TSC cohort and to explore common, modifiable risk factors. Read More

Radiologe 2018 Jul;58(7):664-667

Klinik für Diagnostische und Interventionelle Neuroradiologie, Universitätsklinikum des Saarlandes, Kirrberger Straße, 66424, Homburg-Saar, Deutschland.

Clinical/methodical Issue: Phakomatoses refer to a heterogeneous and inconsistently defined group of neurocutaneous disorders. Tuberous sclerosis, neurofibromatosis types 1 and 2, Sturge-Weber syndrome and von Hippel-Lindau disease are entities with typical findings in neuroimaging studies STANDARD RADIOLOGICAL METHODS: These findings are usually easily depicted on magnetic resonance imaging (MRI) studies, thus, making diagnosis easier. Read More

Cereb Cortex 2018 Oct;28(10):3665-3672

Computational Radiology Laboratory, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.

Introduction: Neurological manifestations in Tuberous Sclerosis Complex (TSC) are highly variable. Diffusion tensor imaging (DTI) may reflect the neurological disease burden. We analyzed the association of autism spectrum disorder (ASD), intellectual disability (ID) and epilepsy with callosal DTI metrics in subjects with and without TSC. Read More

Seizure 2018 Aug 15;60:86-90. Epub 2018 Jun 15.

Department of Pediatrics and Neurology, University of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. Electronic address:

Purpose: Tuberous sclerosis (TSC) is an autosomal dominant inherited disease caused by mutations in the TSC1 or TSC2 gene and results in the over-activation of the mammalian target of the rapamycin (mTOR) signaling pathway. Rapamycin, an mTOR inhibitor, is clinically used to treat hamartomatous lesionsas in TSC and its effect on controlling epilepsy is also reported in many studies. This study aims to evaluate the risk factors of pharmacoresistant epilepsy in patients with TSC receiving long-term rapamycin treatment. Read More

Seizure 2018 Aug 18;60:71-79. Epub 2018 Jun 18.

Pediatric Neurosurgery Unit, Rothschild Foundation Hospital, Paris, France.

Purpose: Epilepsy surgery has been shown to be effective in treating focal epilepsy related to tuberous sclerosis complex (TSC). We analyzed the advantage of early surgical management in terms of seizure frequency and development.

Method: We retrospectively studied the 15 patients younger than 6 years who underwent resective surgery between 2006 and 2016. Read More

Radiology 2018 09 19;288(3):804-812. Epub 2018 Jun 19.

From the Center for Brain Imaging Science and Technology, Key Laboratory for Biomedical Engineering of Ministry of Education, College of Biomedical Engineering and Instrumental Science (C.L., X.C., Y.L., H.Y., Q.D., H.H., J.Z.), Department of Neurology, The First Affiliated Hospital (K.W., D.W.), State Key Laboratory of Modern Optical Instrumentation, College of Optical Science and Engineering (H.Y.), and Center for Innovative and Collaborative Detection and Treatment of Infectious Diseases (J.Z.), Zhejiang University, 38 Zheda Rd, Hangzhou, Zhejiang 310027, China; and the Department of Imaging Sciences, University of Rochester, Rochester, NY (J.Z.).

Purpose To improve diagnosis of hippocampal sclerosis (HS) in patients with mesial temporal lobe epilepsy (MTLE) by using MR fingerprinting and compare with visual assessment of T1- and T2-weighted MR images. Materials and Methods For this prospective study performed between April and November 2016, T1 and T2 maps were obtained and tissue segmentation performed in consecutive patients with drug-resistant MTLE with unilateral or bilateral HS. T1 and T2 maps were compared between 33 patients with MTLE (23 women and 10 men; mean age, 32. Read More

Neuroradiology 2018 Aug 17;60(8):813-820. Epub 2018 Jun 17.

Pediatric Neurology and Neurophysiology Unit, Department of Woman and Child Health, University Hospital of Padova, Padova, PD, Italy.

Purpose: Despite complex olfactory bulb embryogenesis, its development abnormalities in tuberous sclerosis complex (TSC) have been poorly investigated.

Methods: Brain MRIs of 110 TSC patients (mean age 11.5 years; age range 0. Read More

Urology 2018 Sep 7;119:e1-e2. Epub 2018 Jun 7.

Beaumont Health, Department of Diagnostic Radiology and Molecular Imaging, Oakland University William Beaumont School of Medicine, 3601 W 13 Mile Rd, Royal Oak, MI 48073.

Renal angiomyolipoma (AML) is the most commonly encountered mesenchymal tumor of the kidney which can present spontaneously or in association with tuberous sclerosis complex. Rarely, renal AMLs may demonstrate aggressive features such as renal vein invasion. This common entity and its uncommon complications are diagnosed based on physical examination and computed tomography results. Read More

Dev Med Child Neurol 2018 07;60(7):724-725

Department of Woman and Child Health, Pediatric Neurology and Neurophysiology Unit, University Hospital of Padova, Padova, Italy.

Neuroradiol J 2018 Aug 8;31(4):420-425. Epub 2018 Jun 8.

2 Vivian L. Smith Department of Neurosurgery, McGovern Medical School at The University of Texas Health Science Center, USA.

Introduction Orbital meningoencephalocele formation is primarily a result of congenital defects in the pediatric population and trauma of the anterior cranial fossa in adults. We present a unique case of nontraumatic nasal and orbital meningoencephaloceles presenting as bilateral proptosis with exotropia secondary to chronic hydrocephalus. Clinical presentation A 20-year-old male with a history of tuberous sclerosis, X-linked intellectual disability, and epilepsy presented to the emergency department with two days of nausea, emesis, seizures, and two months of progressive proptosis. Read More

Ultrasound Obstet Gynecol 2018 Jun 6. Epub 2018 Jun 6.

Maternal-Fetal Consultation Center of Congenital Heart Disease, Department of echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.

Objective: To analyse the imaging and clinical features of fetal cardiac tumours, and to explore the relationship between tuberous sclerosis complex (TSC) and cardiac rhabdomyoma in fetuses.

Methods: In total, 53 pregnant women with fetal cardiac tumour(s) were examined by standardized fetal echocardiography(FE) and familial TSC genetic testing, and relevant pathological features were also collected.

Results: Of the 53 fetuses, 37 cases exhibited multiple cardiac tumours and 16 exhibited a single cardiac tumor by FE. Read More

Neuroradiology 2018 Aug 5;60(8):785-794. Epub 2018 Jun 5.

State Key Laboratory of Brain and Cognitive Science, Beijing MRI Center for Brain Research, Institute of Biophysics, Chinese Academy of Sciences, 15 Datun Road, Chaoyang District, Beijing, 100101, China.

Purpose: This study was conducted to determine the benefit of magnetic resonance imaging (MRI) at 7 T in detecting structural lesions and previously unidentified abnormalities in patients with tuberous sclerosis complex (TSC).

Methods: Thirteen patients with TSC (8-36 years, seven males) previously diagnosed by 3 T MRI underwent additional imaging at 7 T, which included T1-weighted magnetization-prepared rapid gradient-echo (MPRAGE), T2-weighted turbo spin echo (TSE), SPACE fluid attenuated inversion recovery (FLAIR), susceptibility weighted imaging (SWI), white matter suppressed (WM-suppressed), and gray-white matter tissue border enhancement (GW-TBE) MPRAGE sequences. Subtle lesions, tuberal morphology, and perituberal cortex abnormalities were examined and compared to those observed at 3 T MRI using standard sequences. Read More