Search Our Scientific Publications & Authors

Eur Urol Focus 2020 Jul 4. Epub 2020 Jul 4.

Division of Urology, Department of Surgery, Princess Margaret Cancer Center, University of Toronto, ON, Canada. Electronic address:

Background: Traditionally, intervention was recommended for angiomyolipomas (AMLs) >4 cm due to the risk of catastrophic hemorrhage.

Objective: To delineate the natural history of AMLs, including growth rates and need for intervention.

Design, Setting, And Participants: A retrospective review was performed of an AML series from 2002 to 2013, which have been followed prospectively until 2018. Read More

Biomed Tech (Berl) 2020 Jul 5. Epub 2020 Jul 5.

Division of Neurosurgery, Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.

Epilepsy surgery is an important treatment modality for medically refractory focal epilepsy. The outcome of surgery usually depends on the localization accuracy of the epileptogenic zone (EZ) during pre-surgical evaluation. Good localization can be achieved with various electrophysiological and neuroimaging approaches. Read More

J Clin Transl Res 2020 Apr 11;5(3):102-108. Epub 2020 Mar 11.

Department of Radiology, Baoji Center Hospital, Baoji 721008, Shaanxi, P.R. China.

Background And Aim: Tuberous sclerosis complex (TSC) is a rare disease with serious clinical consequences such as mental deficiency and epilepsy. The pathological changes of TSC include demyelination and subependymal calcified nodules. Quantitative susceptibility mapping (QSM) is a newly developed imaging technique which is capable of quantitatively measuring the susceptibility induced by iron deposition, calcification, and demyelination. Read More

Heliyon 2020 Jun 23;6(6):e04229. Epub 2020 Jun 23.

Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Japan.

Purpose: A patient with tuberous sclerosis complex (TSC) and a left temporal cavernous angioma (CA) presented with treatment-resistant epilepsy. We evaluated the patient to determine the best treatment option.

Patient And Methods: A 7-year-old boy with TSC exhibited weekly impaired awareness seizures and was diagnosed with TSC based on the modified Gomez's criteria. Read More

Urol Ann 2020 Apr-Jun;12(2):167-171. Epub 2020 Apr 14.

Department of Urology, King Saud Medical City, Riyadh, Saudi Arabia.

Giant angiomyolipoma (AML) is uncommon benign renal neoplasm that occurs sporadic or in association with tuberous sclerosis syndrome. There is no specific cutoff tumor size and/or weight to define giant AMLs. Ovarian stimulation hormones might cause a marked increase in its size and subsequent bleeding risk. Read More

Brain Pathol 2020 Jun 12. Epub 2020 Jun 12.

Taiwan International Graduate Program in Interdisciplinary Neuroscience, National Yang-Ming University and Academia Sinica, Taipei, 11574, Taiwan.

Tuberous sclerosis complex (TSC) is a rare hereditary disease, which results from the mutation of either TSC1 or TSC2, and its clinical features include benign tumors and dysfunctions in numerous organs, including the brain. Many individuals with TSC manifest neuropsychiatric symptoms, such as learning impairments, cognitive deficits and anxiety. Current pharmacological treatment for TSC is the use of mTOR inhibitors. Read More

Acta Obstet Gynecol Scand 2020 Jun 11. Epub 2020 Jun 11.

Division of Neuroradiology and Musculoskeletal Radiology, Department of Radiology, Medical University of Vienna, Vienna, Austria.

Introduction: Fetal tumors are rare and usually followed by poor outcome. We describe our single-center experience with fetal tumors evaluated by ultrasound and magnetic resonance imaging (MRI). Our aims were to evaluate mortality and morbidity including long-term outcome and to determine which ultrasound and MRI characteristics were helpful for pre- and perinatal management. Read More

Childs Nerv Syst 2020 Jun 9. Epub 2020 Jun 9.

Department of Pediatric Neurosciences, Pediatric Neurosurgery Unit, Santobono-Pausilipon Children's Hospital, Via Mario Fiore n. 6, 80129, Naples, Italy.

Introduction: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder affecting multiple systems, due to inactivating mutations of TSC1 or TSC2 mTOR pathway genes. Neurological manifestations are observed in about 95% cases, representing the most frequent cause of morbidity and one of the most common causes of mortality.

Background: Neuroimaging is crucial for early diagnosis, monitoring, and management of these patients. Read More

World J Clin Cases 2020 May;8(10):1995-2000

Department of Gastroenterology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong Province, China.

Background: Primary intestinal lymphangiectasia (PIL) is a rare congenital protein-losing enteropathy caused by dysplasia of the small intestinal lymphatics. The cause of the disease is unknown. Through a literature review, we found that PIL and tuberous sclerosis complex (TSC) have some common symptoms and molecular pathways. Read More

Ann Emerg Med 2020 06;75(6):e33-e34

Department of the Radiology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

Genet Med 2020 May 28. Epub 2020 May 28.

Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Purpose: To perform comprehensive genotyping of TSC1 and TSC2 in a cohort of 94 infants with tuberous sclerosis complex (TSC) and correlate with clinical manifestations.

Methods: Infants were enrolled at age <4 months, and subject to intensive clinical monitoring including electroencephalography (EEG), brain magnetic resonance imaging (MRI), and neuropsychological assessment. Targeted massively parallel sequencing (MPS), genome sequencing, and multiplex ligation-dependent probe amplification (MLPA) were used for variant detection in TSC1/TSC2. Read More

J Eur Acad Dermatol Venereol 2020 May 12. Epub 2020 May 12.

Department. of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.

In patients with tuberous sclerosis we can today distinguish between two different categories of segmental mosaicism. The well-known simple segmental mosaicism is characterized by a unilateral or otherwise localized arrangement of the ordinary lesions of the disorder, reflecting heterozygosity for an early postzygotic new mutation. By contrast, superimposed mosaicism is defined by a pronounced segmental involvement in a patient with ordinary nonsegmental lesions of the same disorder, resulting in a heterozygous embryo from loss of the corresponding wild-type allele that occurred at a very early developmental stage. Read More

PLoS One 2020 29;15(4):e0232376. Epub 2020 Apr 29.

Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.

Objective: To develop and test a deep learning algorithm to automatically detect cortical tubers in magnetic resonance imaging (MRI), to explore the utility of deep learning in rare disorders with limited data, and to generate an open-access deep learning standalone application.

Methods: T2 and FLAIR axial images with and without tubers were extracted from MRIs of patients with tuberous sclerosis complex (TSC) and controls, respectively. We trained three different convolutional neural network (CNN) architectures on a training dataset and selected the one with the lowest binary cross-entropy loss in the validation dataset, which was evaluated on the testing dataset. Read More

Radiol Case Rep 2020 Jul 22;15(7):816-818. Epub 2020 Apr 22.

Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, 401 Smyth Road, Ottawa, Ontario K1H 8L1, Canada.

Tuberous sclerosis complex (TSC) is characterized by the growth of benign tumors in the skin, brain, kidneys, lung and heart [1]. Prognosis is mostly determined by the extent of brain involvement as tumors in the brain lead to seizures, cognitive impairment and behavioral problems. Current evidence suggests anti-epileptic treatment before the onset of seizures reduces epilepsy severity and risk of cognitive impairment in TSC however identifying these children prior to the onset of seizures is challenging. Read More

Oncogene 2020 Jun 19;39(25):4781-4797. Epub 2020 Apr 19.

Breast Cancer Now Toby Robins Research Centre, Institute of Cancer Research, London, SW7 3RP, UK.

Combination of CDK4/6 inhibitors and endocrine therapy improves clinical outcome in advanced oestrogen receptor (ER)-positive breast cancer, however relapse is inevitable. Here, we show in model systems that other than loss of RB1 few gene-copy number (CN) alterations are associated with irreversible-resistance to endocrine therapy and subsequent secondary resistance to palbociclib. Resistance to palbociclib occurred as a result of tumour cell re-wiring leading to increased expression of EGFR, MAPK, CDK4, CDK2, CDK7, CCNE1 and CCNE2. Read More

J Neurooncol 2020 May 13;147(3):731-736. Epub 2020 Apr 13.

Division of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, Canada.

Purpose: Mammalian target of rapamycin inhibitors (mTORi) are known to effectively reduce the size of subependymal giant cell astrocytomas (SEGAs), which are benign brain lesions associated with Tuberous Sclerosis Complex (TSC) that commonly cause obstructive hydrocephalus (OH). This retrospective case series reviews an institutional experience of the effect of mTORi on OH in patients with TSC-related SEGA.

Methods: Thirteen of 16 identified patients with TSC-related SEGA treated with mTORi from October 2007 to December 2018 were included. Read More

Radiol Clin North Am 2020 May;58(3):619-638

Division of Thoracic Imaging, Department of Radiology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA. Electronic address:

Genetic syndromes are an infrequently encountered but challenging group of conditions for both pediatric and adult radiologists given the multitude of possible findings and important complications associated with these syndromes. This article reviews characteristic syndromic imaging features, as well as discussing important complications and screening recommendations for a selected group of clinically relevant genetic syndromes affecting both pediatric and adult populations. Read More

J Urol 2020 Apr 6:101097JU0000000000001065. Epub 2020 Apr 6.

Fox Chase Cancer Center, Philadelphia, Pennsylvania.

Purpose: Everolimus decreases tumor volume of renal angiomyolipomas in patients with tuberous sclerosis. No prospective data are available regarding the effect of everolimus on the growth kinetics in patients with sporadic angiomyolipomas. We sought to determine the safety and efficacy of everolimus in the volumetric reduction of sporadic angiomyolipomas. Read More

AJR Am J Roentgenol 2020 06 24;214(6):1343-1351. Epub 2020 Mar 24.

Department of Diagnostic Imaging, Montreal Children's Hospital, McGill University, 1001 Decarie Blvd, Rm B02.7005, Montreal, QC H4A 3J1, Canada.

The purpose of this study was to investigate the influence of 3-T intraoperative MRI (ioMRI) on the extent of resection of pediatric focal epileptogenic lesions, residual lesion volumes, and postoperative seizure outcomes. All surgical procedures for focal epilepsy from 2003 to 2017 were retrospectively reviewed. Patients were divided into two groups: those who underwent ioMRI and those who did not. Read More

Zhonghua Yan Ke Za Zhi 2020 Mar;56(3):211-216

Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Ocular Fundus Diseases, Beijing 100730, China.

To investigate the autofluorescence findings of retinal astrocytic hamartoma (RAH) in patients with tuberous sclerosis complex (TSC). It was a retrospective case series study. Twenty-three patients (35 eyes) who were referred to Department of Internal Medicine and Department of Ophthalmology, Peking Union Medical College Hospital between November 2012 and June 2018 with established TSC-associated RAH diagnosis were included. Read More

World Neurosurg 2020 06 10;138:141-144. Epub 2020 Mar 10.

Department of Neurosurgery, Qilu Hospital of Shandong University (Qingdao), Qingdao, P.R. China. Electronic address:

Background: Neuromodulation is recommended for patients with refractory tuberous sclerosis related epilepsy (TRE) who are unable to localize epileptogenic nodules after comprehensive preoperative evaluation or for patients and families who do not agree to resection.

Case Description: We report a patient with refractory TRE who received deep brain stimulation of anterior thalamic nucleus (ANT-DBS) and achieved a satisfactory response. To our knowledge, this is the first case of TRE being treated with ANT-DBS. Read More

Surg Neurol Int 2020 25;11:26. Epub 2020 Feb 25.

Departments of Neurosurgery, Children's Hospital "Aghia Sofia", Athens, Greece.

Background: Subependymal giant cell astrocytomas (SEGAs) appear approximately in 10% of patients with tuberous sclerosis. These tumors are most commonly diagnosed in childhood and adolescence, with diagnosed SEGAs being an extremely rare entity.

Case Description: We present the case of a congenital SEGA detected in an antenatal ultrasound and further investigated with fetal magnetic resonance imaging (MRI) scans at 22 and 32 weeks of gestational age. Read More

Urology 2020 May 17;139:161-167. Epub 2020 Feb 17.

Division of Pediatric Urology, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA.

Objective: To evaluate the clinical and radiographic follow-up of renal angiomyolipoma (AML) in pediatric patients with tuberous sclerosis complex (TSC) on mTOR inhibitors.

Methods: We performed retrospective chart review of children who were diagnosed with TSC between 2000 and 2019 and prescribed everolimus at age ≤18 years. Treatment assessment was performed in patients who were medically-compliant by serum drug trough levels and who had at least a baseline and one subsequent renal imaging study. Read More

Neurosurgery 2020 04;86(4):E366-E382

Department of Neurological Surgery, Columbia University Medical Center, New York, New York.

Background: For patients with focal drug-resistant epilepsy (DRE), surgical resection of the epileptogenic zone (EZ) may offer seizure freedom and benefits for quality of life. Yet, concerns remain regarding invasiveness, morbidity, and neurocognitive side effects. Magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) has emerged as a less invasive option for stereotactic ablation rather than resection of the EZ. Read More

Eur J Nucl Med Mol Imaging 2020 Jan 17. Epub 2020 Jan 17.

Department of Nuclear Medicine, Zhongshan Hospital, Fudan University, Shanghai, China.

Sci Rep 2020 01 16;10(1):436. Epub 2020 Jan 16.

Department of Radiology, Nagoya University, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466-8550, Japan.

Neurite orientation dispersion and density imaging (NODDI) is a novel diffusion method for evaluating tissue microstructure, and may provide additional information over conventional diffusion tensor imaging (DTI). We evaluated NODDI and DTI parameters in cases of tuberous sclerosis (TS) to assess microstructural changes in the white matter. Eleven cases of tuberous sclerosis and eight age-matched controls underwent NODDI and DTI. Read More

Clin Radiol 2020 Apr 6;75(4):287-292. Epub 2020 Jan 6.

Department of Radiology, University Hospitals of Leicester NHS Trust, Leicester General Hospital, Gwendolen Road, Leicester LE5 4PW, UK. Electronic address:

Aim: To optimise follow-up by dismissing lesions on baseline ultrasound (US) if renal lesions conform to US criteria of an angiomyolipoma (AML).

Method And Materials: The present study was a 10-year retrospective review of patients who were found to have incidental hyperechoic renal lesions on US to ascertain the outcome from subsequent imaging, clinical encounters, and cancer registrations. Exclusions included renal calculi, tuberous sclerosis, Von-Hippel-Lindau, or a known cancer. Read More

J Clin Neurosci 2020 Feb 28;72:360-364. Epub 2019 Dec 28.

Department of Neurology, Haeundae Paik Hospital, Inje University College of Medicine, Busan, South Korea. Electronic address:

Tuberous sclerosis complex (TSC) is an inherited genetic disorder caused by mutations in the TSC1 or TSC2 genes, encoding hamartin and tuberin. We aimed to evaluate structural volumes and connectivity of patients with TSC compared to those of healthy subjects. We consecutively enrolled 13 patients with a diagnosis of TSC and 15 age- and sex-matched healthy control subjects. Read More

Neurosciences (Riyadh) 2019 10;24(4):335-337

Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.

Am J Respir Crit Care Med 2020 May;201(10):e76

Department of Thoracic Medicine and.

JAMA Neurol 2019 Dec 20. Epub 2019 Dec 20.

Memory and Aging Center, University of California, San Francisco.

Importance: Individuals with tuberous sclerosis complex can develop a progressive neuropsychiatric syndrome known as tuberous sclerosis-associated neuropsychiatric disorders. Tuberous sclerosis-associated neuropsychiatric disorders symptoms overlap with clinical criteria for frontotemporal dementia, yet the association between the 2 has not been explored.

Objective: To investigate the potential association between tuberous sclerosis-associated neuropsychiatric disorders and frontotemporal dementia. Read More

PLoS One 2019 19;14(12):e0226400. Epub 2019 Dec 19.

Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China.

The aim of our study was to elucidate the landscapes of genetic alterations of TSC1 and TSC2 as well as other possible non-TSC1/2 in Lymphangioleiomyomatosis (LAM) patients. Sixty-one Chinese LAM patients' clinical information was collected. Tumor biopsies and matched leukocytes from these patients were retrospectively analyzed by next generation sequencing (NGS), chromosomal microarray analysis (CMA), and multiplex ligation-dependent probe amplification (MLPA). Read More

J Neurodev Disord 2019 12 16;11(1):36. Epub 2019 Dec 16.

Computational Radiology Laboratory, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Harvard University, Boston, Massachusetts, USA.

Background: Autism spectrum disorder (ASD) is prevalent in tuberous sclerosis complex (TSC), occurring in approximately 50% of patients, and is hypothesized to be caused by disruption of neural circuits early in life. Tubers, or benign hamartomas distributed stochastically throughout the brain, are the most conspicuous of TSC neuropathology, but have not been consistently associated with ASD. Widespread neuropathology of the white matter, including deficits in myelination, neuronal migration, and axon formation, exist and may underlie ASD in TSC. Read More

ACG Case Rep J 2019 Oct 17;6(10):e00244. Epub 2019 Oct 17.

Division of Gastroenterology, Department of Medicine, Olive View-UCLA Medical Center, Sylmar, CA.

A 53-year-old man with tuberous sclerosis complex presented with severe, acute, right lower quadrant pain. The patient was found to have ileocolonic intussusception and a cecal mass on imaging. Diagnostic colonoscopy revealed a 3-cm cecal lesion which was grossly equivocal for hamartoma, adenoma, or other neoplasm, biopsies of which revealed villous adenoma. Read More

Cereb Cortex 2020 Apr;30(4):2199-2214

Computational Radiology Laboratory, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115 USA.

Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumors throughout the body; it is generally diagnosed early in life and has a high prevalence of autism spectrum disorder (ASD), making it uniquely valuable in studying the early development of autism, before neuropsychiatric symptoms become apparent. One well-documented deficit in ASD is an impairment in face processing. In this work, we assessed whether anatomical connectivity patterns of the fusiform gyrus, a central structure in face processing, capture the risk of developing autism early in life. Read More

J Perinat Med 2019 Dec;48(1):74-81

Department of Obstetrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Background The main objective of this retrospective analysis in a large tertiary center was the clinical outcome of prenatally diagnosed cardiac rhabdomyomas as well as the identification of factors influencing fetal prognosis. Methods A total of 45 cases of fetuses with prenatally suspected rhabdomyoma and their clinical outcome were analyzed retrospectively. A review of the literature was also performed. Read More

Ophthalmic Surg Lasers Imaging Retina 2019 11;50(11):737-739

Retinal astrocytic hamartoma is the most common ocular manifestation in tuberous sclerosis. Although astrocytic hamartomas are usually benign and stationary, there are occasionally circumstances when they are considered to be active. In this study, the authors report a case of self-limited visual impairment due to astrocytic hamartomas. Read More

Clin Radiol 2020 02 31;75(2):88-99. Epub 2019 Oct 31.

Radiology Department, Austin Health, Heidelberg, Melbourne, Australia; University of Melbourne, Parkville, Melbourne, Australia. Electronic address:

Hepatic angiomyolipomas (HAMLs) are rare mesenchymal neoplasms, which have highly variable imaging appearances, often leading to misdiagnosis. They belong to the family of perivascular epithelioid cell neoplasms (PEComas). HAMLs have a wide spectrum of imaging appearances due to variable amounts of smooth muscle cells, adipose tissue, and blood vessels in their makeup. Read More

Epilepsy Behav 2020 02 20;103(Pt A):106535. Epub 2019 Oct 20.

Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Japan.

Objective: We aimed to clarify the association between magnetic resonance imaging (MRI)-lesion patterns, including cortices and white matters, and the development, occurrence, and intractableness of West syndrome in patients with tuberous sclerosis complex (TSC), using visual analysis.

Methods: We collected data for 44 patients with TSC who had undergone brain MRI and developmental evaluation after the ages of 2 and 3 years, respectively. Fluid-attenuated inversion recovery (FLAIR) and T1-weighted images were used to analyze the number of cyst-like tubers, the number of cyst-like subcortical lesions, and the presence of diffuse lesions involving the cortices and white matter. Read More

Urology 2020 Jan 13;135:82-87. Epub 2019 Oct 13.

Departments of Urology, Chaim Sheba Medical Center, Tel Hashomer, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

Objective: To assess long-term outcome after selective arterial embolization (SAE) as first-line treatment for large or symptomatic AML.

Design, Setting, And Participants: Data from a prospectively maintained database on 71 patients who underwent SAE for large or symptomatic AML were reviewed. Patients with sporadic and tuberous-sclerosis-complex (TSC) were included. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Oct;36(10):961-964

Department of Dermatology, the Affiliated Fuding Hospital, Fujian University of Traditional Chinese Medicine, Fuding, Fujian 355200, China.

Objective: To analyze the clinical phenotype of a Chinese pedigree affected with Tuberous sclerosis complex (TSC) and explore pathogenic mutations of TSC1 and TSC2 gene.

Methods: Unique clinical phenotypes，the results of imaging, examination of the proband and special family history, collectively, made the constellation of features of TSC. Genomic DNA was obtained from six affected and eight unaffected members of the family and potential mutations of the TSC1 and TSC2 genes were detected by PCR-amplification of the exons and exon-intron boundaries and direct sequencing. Read More

Technol Health Care 2020 ;28(3):241-248

Department of Diagnostic Radiology and Nuclear Medicine, Gunma University Graduate School of Medicine, Maebashi, Japan.

Background: Gray matter (GM) imaging is important in the investigation of many neurological diseases, including schizophrenia, multiple sclerosis, stroke, Alzheimer's disease, tuberous sclerosis, and epilepsy, which are all associated with changes in cortical GM.

Objective: The aim of this study was to develop a quantitative statistical analysis system for double inversion recovery (DIR) MRI and to evaluate the new system using preliminary clinical data.

Methods: The study population comprised of 10 healthy volunteers and six patients with or without brain degeneration. Read More

Mol Ther Methods Clin Dev 2019 Dec 16;15:18-26. Epub 2019 Aug 16.

Molecular Neurogenetics Unit, Department of Neurology and Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital, and Neurodiscovery Center, Harvard Medical School, Charlestown, MA, USA.

Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome caused by mutations in or encoding hamartin and tuberin, respectively. These proteins act as a complex that inhibits mammalian target of rapamycin (mTOR)-mediated cell growth and proliferation. Loss of either protein leads to overgrowth in many organs, including subependymal nodules, subependymal giant cell astrocytomas, and cortical tubers in the human brain. Read More

Ren Fail 2019 Nov;41(1):842-849

Department of Clinical Biochemistry, College of Medicine, Imam Abdulrahman Bin Faisal University , Dammam , Saudi Arabia.

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of kidney cysts and enlargement and dysfunction of the kidneys. The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP) cohort revealed that 89.1% had either a or mutation. Read More

Pediatr Radiol 2019 12 4;49(13):1788-1797. Epub 2019 Sep 4.

Department of Radiology, Massachusetts General Hospital, 55 Fruit St., Boston, MA, 02114, USA.

Background: Magnetic resonance imaging (MRI) of the abdomen can be especially challenging in pediatric patients because of image quality degradation from respiratory motion. Abdominal MR protocols tailored for free-breathing children can potentially improve diagnostic image quality and reduce scan time.

Objective: To evaluate the performance of a free-breathing 3-T MRI protocol for renal evaluation in pediatric patients with tuberous sclerosis complex (TSC). Read More

Eur Radiol 2020 Feb 30;30(2):735-743. Epub 2019 Aug 30.

Department of Radiology, Ansan Hospital, Korea University College of Medicine, 123, Jeokgeum-ro, Danwon-gu, Ansan-si, Gyeonggi, 15355, South Korea.

Objectives: To determine whether sirolimus has beneficial effects on lymphangioleiomyomatosis (LAM) lung cysts in CT with long-term follow-up (FU) and to investigate whether CT is an appropriate imaging biomarker to monitor and evaluate LAM progression.

Methods: In this retrospective study, 73 female patients diagnosed with definite LAM between May 2001 and June 2018 were included. Among these, 39 (53. Read More

Respir Med 2019 10 22;157:14-20. Epub 2019 Aug 22.

Department of Medical Sciences, Respiratory Unit, University of Milan, Italy.

Lymphangioleiomyomatosis (LAM) is a rare diffuse lung cystic disease (DLCD) that occurs sporadically or in association with Tuberous Sclerosis Complex (TSC). The diagnostic pathway is tracked on the identification of the disease hallmarks on chest High-Resolution Computed Tomography (HRCT). Aim of this review is to discuss the thoracic HRCT pathognomonic features, essential to rule out other DLCD. Read More

S D Med 2019 06;72(6):246-249

Department of Radiology and Imaging Sciences, University of Utah.

Angiomyolipomas are commonly found in patients with tuberous sclerosis (TS), a rare genetic disorder. Angiomyolipomas are benign renal tumors composed of heterogeneously arranged blood vessels, smooth muscle tissue, and fat. Most commonly, angiomyolipomas are small and asymptomatic, but are more prone to enlargement and symptomatic bleeding in TS patients. Read More

Postgrad Med 2019 Sep 12;131(7):445-452. Epub 2019 Sep 12.

Special Unit of Pediatric Neurology, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Agia Sofia Children's Hospital , Athens , Greece.

Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care. Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly developed neurocutaneous clinic in a pediatric tertiary care hospital in Athens (Greece); and systematic chart review of the patients diagnosed with neurofibromatosis type 1 during this time period. The most frequent neurocutaneous syndromes were neurofibromatosis type 1 (NF1) in 89 patients and tuberous sclerosis complex in 17. Read More

J Child Neurol 2019 12 19;34(14):922-927. Epub 2019 Aug 19.

Lurie Children's Hospital of Chicago, Chicago, IL, USA.

Purpose: Tuberous sclerosis complex is a multisystem genetic disorder characterized by multiorgan hamartomas, seizures, and developmental delay. Current consensus recommendations for tuberous sclerosis complex include brain magnetic resonance imaging (MRI) without and with contrast every 1 to 3 years until age 25 years for subependymal giant cell astrocytoma screening, and more often in patients with known subependymal giant cell astrocytoma. Recent reports in the literature regarding gadolinium deposition have prompted us to investigate the added value of intravenous contrast in this setting. Read More