scholarly journals Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Larissa Brussa Reis ◽  
Daniele Konzen ◽  
Cristina Brinckmann Oliveira Netto ◽  
Pedro Moacir Braghirolli Braghini ◽  
Gabriel Prolla ◽  
...  
Keyword(s):  
Neuroendocrine Tumor ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Pancreatic Neuroendocrine Tumor ◽  
Low Grade ◽  
Gastrointestinal Polyposis ◽  
Colorectal Polyposis ◽  
Predisposing Genes ◽  
History Of ◽  
Gastro Intestinal Tract

Abstract Background Tuberous Sclerosis Complex (TSC) is a complex and heterogeneous genetic disease that has well-established clinical diagnostic criteria. These criteria do not include gastrointestinal tumors. Case presentation We report a 45-year-old patient with a clinical and molecular diagnosis of TSC and a family history of cancer, presenting two rare associated findings: gastrointestinal polyposis and pancreatic neuroendocrine tumor. This patient was subjected to a genetic test with 80 cancer predisposing genes. The genetic panel revealed the presence of a large pathogenic deletion in the TSC2 gene, covering exons 2 to 16 and including the initiation codon. No changes were identified in the colorectal cancer and colorectal polyposis genes. Discussion and conclusions We describe a case of TSC that presented tumors of the gastro intestinal tract that are commonly unrelated to the disease. The patient described here emphasizes the importance of considering polyposis of the gastrointestinal tract and low grade neuroendocrine tumor as part of the TSC syndromic phenotype.

Pancreatic Neuroendocrine Tumor in a Child with a Tuberous Sclerosis Complex 2 (TSC2) Mutation

2013 ◽  
Vol 19 (5) ◽  
pp. e124-e128 ◽  
Author(s):  
Roberta Bombardieri ◽  
Romina Moavero ◽  
Denis Roberto ◽  
Caterina Cerminara ◽  
Paolo Curatolo
Keyword(s):  
Neuroendocrine Tumor ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Pancreatic Neuroendocrine Tumor

scholarly journals Pancreatic Neuroendocrine Tumor in a Young Child With Tuberous Sclerosis Complex 1

2019 ◽  
Vol 3 (6) ◽  
pp. 1201-1206 ◽  
Author(s):  
Shilpa Mehta ◽  
Larisa Rusyn ◽  
Howard Ginsburg ◽  
Cristina Hajdu ◽  
Brenda Kohn
Keyword(s):  
Young Child ◽  
Neuroendocrine Tumor ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Pancreatic Neuroendocrine Tumor

scholarly journals Metastatic Insulinoma Presenting With Post-Prandial Hypoglycemia

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A999-A1000
Author(s):  
Monique Maher ◽  
Dimpi Desai ◽  
Mandeep Bajaj
Keyword(s):  
Blood Glucose ◽  
Neuroendocrine Tumor ◽  
Regional Lymph Node ◽  
Glucose Monitoring ◽  
Insulin Level ◽  
Pancreatic Neuroendocrine Tumor ◽  
Needle Aspiration ◽  
Low Grade ◽  
C Peptide ◽  
Fasting Hypoglycemia

Abstract Background: Patients with an insulinoma, a type of pancreatic neuroendocrine tumor, typically present with fasting hypoglycemia (1). Occurrence of exclusively postprandial hypoglycemia as a result of a predominantly proinsulin-secreting metastatic neuroendocrine tumor is rare (2). Clinical Case: A 69-year-old man presented with episodes of postprandial blurry vision, sweating and confusion for the last two years that were becoming more frequent over the last several weeks. Self-monitoring of blood glucose at home revealed postprandial hypoglycemia (45-70mg/dl) and symptoms were consistent with Whipple’s triad. Continuous glucose monitoring over 14-days via Dexcom G6 showed no nocturnal or fasting hypoglycemia and revealed only postprandial hypoglycemia within one-two hours after meals. Laboratory measurements were performed at 8am in fasting state which revealed a blood glucose of 97mg/dl, insulin level 7.8 µIU/ml (2-21 µIU/ml), c-peptide 1.67 ng/ml (1.1-4.4 ng/ml) and elevated proinsulin level of 39 pmol/l (<8.0 pmol/l). An outpatient fast was conducted in the clinic, and when serum blood glucose dropped to 47mg/dL (21 hours after the initiation of the fast), insulin (6 µIU/ml) and c-peptide (2.0ng/ml) levels were detectable with an elevated proinsulin (20.8pmol/L) level. CT abdomen and pelvis showed a 1.6cm hyperenhancing lesion in the distal body of the pancreas. He underwent endoscopic ultrasonography with fine-needle aspiration, confirming the diagnosis of a pancreatic neuroendocrine tumor. Distal pancreatectomy and splenectomy were performed to resect the tumor which led to resolution of his symptoms. Pathology revealed a low grade well-differentiated neuroendocrine tumor with lymphovascular invasion and regional lymph node metastases. Conclusion: Pancreatic neuroendocrine tumor should be considered in post-prandial hypoglycemia, even in the absence of fasting hypoglycemia. Measuring proinsulin is essential in the diagnostic workup of insulinoma causing hypoglycemia References: 1. Placzkowski KA, Vella A, Thompson GB, Grant CS, Reading CC, Charboneau JW, et al. Secular trends in the presentation and management of functioning insulinoma at the Mayo Clinic, 1987-2007. J Clin Endocrinol Metab. 2009;94(4):1069-73.2. Murtha TD, Lupsa BC, Majumdar S, Jain D, Salem RR. A Systematic Review of Proinsulin-Secreting Pancreatic Neuroendocrine Tumors. J Gastrointest Surg. 2017;21(8):1335-41.

Natural history of incidental sporadic or tuberous sclerosis complex associated lymphangioleiomyomatosis

2019 ◽  
Author(s):  
Fabiano Di Marco ◽  
Silvia Terraneo ◽  
Olívia Olívia Meira Dias ◽  
Gianluca Imeri ◽  
Stefano Centanni ◽  
...  
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
History Of

The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review

2018 ◽  
Vol 29 (3) ◽  
pp. 295-301 ◽  
Author(s):  
Denise L. Chan ◽  
Tessa Calder ◽  
John A. Lawson ◽  
David Mowat ◽  
Sean E. Kennedy
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Tuberous Sclerosis Complex ◽  
Obstructive Hydrocephalus ◽  
Growth Patterns ◽  
Imaging Characteristics ◽  
Life Threatening ◽  
History Of ◽  
Mtor Activity

AbstractTuberous sclerosis complex (TSC) is an auto-somal-dominant inherited condition with an incidence of approximately 1:6000 births, characterised by deregulated mTOR activity with multi-site hamartomas. Subependymal giant cell astrocytomas (SEGA) are one such hamartoma, affecting up to 24% of patients with TSC. Their intraventricular location may lead to life-threatening obstructive hydrocephalus. Current management is hampered by a lack of understanding regarding the natural history, behaviour and growth patterns of SEGA. We review the current literature to summarise what is known about SEGA in the following areas: (1) diagnostic criteria, (2) prevalence, (3) origin, (4) imaging characteristics, (5) growth rate, (6) genotype-phenotype correlation, (7) congenital SEGA and (8) SEGA as a marker of severity of other TSC manifestations.

Lymphangioleiomyomatosis and Micronodular Pneumocyte Hyperplasia in a Patient With Tuberous Sclerosis Complex

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S50-S50
Author(s):  
An Peter ◽  
Amandeep Aneja
Keyword(s):  
Smooth Muscle ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Wedge Resection ◽  
Premenopausal Women ◽  
Lung Parenchyma ◽  
Nodule Formation ◽  
Radiologic Findings ◽  
Type Ii Pneumocytes ◽  
History Of

Abstract Lymphangioleiomyomatosis (LAM) is a rare progressive disease characterized by proliferation of smooth muscle–like cells in the lung, mediastinum, and abdomen. In the lung, it is seen with cystic destruction of the lung parenchyma, which occurs almost exclusively in premenopausal women. It occurs in about 1% of patients with tuberous sclerosis complex (TSC). MNPH is an extremely rare pulmonary manifestation of TSC, comprising type 2 pneumocytes in a pattern resembling bronchioloalveolar adenocarcinoma. We report a case of both pulmonary LAM and MNPH associated with TSC. A 35-year-old female with a past medical history of TSC with multiple complications was admitted with iatrogenic pneumothorax following nasopharyngeal intubation during a dental procedure. A blebectomy with wedge resection and mechanical pleurodesis was performed. On gross examination, the wedge specimens revealed multiple cysts in a random distribution. Microscopic examination of the lung parenchyma revealed prominent smooth muscle cells with focal nodule formation. Immunohistochemical stains for SMA and HMB-45 were found to be positive and corroborated these findings. Areas of localized nodular proliferation of benign cuboidal type II pneumocytes lining alveolar walls were also identified. These findings are consistent with LAM and MNPH. Clinicopathological correlation with surgical investigation is indispensable in diagnosing LAM and MNPH, especially when radiologic findings are not definitive in these entities.

scholarly journals Dysregulation of the MMP/TIMP Proteolytic System in Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex: Modulation of MMP by MicroRNA-320d In Vitro

2020 ◽  
Vol 79 (7) ◽  
pp. 777-790
Author(s):  
Anika Bongaarts ◽  
Jody M de Jong ◽  
Diede W M Broekaart ◽  
Jackelien van Scheppingen ◽  
Jasper J Anink ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Low Grade ◽  
Sequencing Data ◽  
Proteolytic System ◽  
Altered Expression

Abstract Tuberous sclerosis complex (TSC), a rare genetic disorder caused by a mutation in the TSC1 or TSC2 gene, is characterized by the growth of hamartomas in several organs. This includes the growth of low-grade brain tumors, known as subependymal giant cell astrocytomas (SEGA). Previous studies have shown differential expression of genes related to the extracellular matrix in SEGA. Matrix metalloproteinases (MMPs), and their tissue inhibitors (TIMPs) are responsible for remodeling the extracellular matrix and are associated with tumorigenesis. This study aimed to investigate the MMP/TIMP proteolytic system in SEGA and the regulation of MMPs by microRNAs, which are important post-transcriptional regulators of gene expression. We investigated the expression of MMPs and TIMPs using previously produced RNA-Sequencing data, real-time quantitative PCR and immunohistochemistry in TSC-SEGA samples and controls. We found altered expression of several MMPs and TIMPs in SEGA compared to controls. We identified the lowly expressed miR-320d in SEGA as a potential regulator of MMPs, which can decrease MMP2 expression in human fetal astrocyte cultures. This study provides evidence of a dysregulated MMP/TIMP proteolytic system in SEGA of which MMP2 could be rescued by microRNA-320d. Therefore, further elucidating microRNA-mediated MMP regulation may provide insights into SEGA pathogenesis and identify novel therapeutic targets.

scholarly journals Acute encephalopathy in children with tuberous sclerosis complex

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Shingo Numoto ◽  
Hirokazu Kurahashi ◽  
Atsushi Sato ◽  
Masaya Kubota ◽  
Takashi Shiihara ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Clinical Manifestations ◽  
Febrile Seizures ◽  
Subcortical White Matter ◽  
Sudden Onset ◽  
Acute Encephalopathy ◽  
History Of ◽  
Magnetic Resonance Imaging Mri ◽  
Poor Outcomes

Abstract Objective We examined the clinical manifestations of acute encephalopathy (AE) and identify risk factors for AE in children with tuberous sclerosis complex (TSC). Methods The clinical data of 11 children with clinically diagnosed TSC associated with AE and 109 children with clinically diagnosed TSC alone aged 4 years or older were collected from 13 hospitals. Results Of the 11 children with AE, 5 had histories of febrile seizures (FS), and all had histories of febrile status epilepticus (FSE). AE developed within 24 h after fever onset in all children with seizures lasting 30 min or longer. All children developed coma after seizure cessation. Head magnetic resonance imaging (MRI) revealed widespread abnormalities in the cerebral cortex, subcortical white matter, corpus callosum, basal ganglia, and thalamus. One child died; seven had severe neurological sequelae; and the other three, mild sequelae. Logistic regression analysis revealed that a history of FSE was correlated with the development of AE. Significance AE in children with TSC was characterized by sudden onset after fever, followed by coma, widespread brain edema evident on MRI, and poor outcomes. A history of FSE was a risk factor for the development of AE.

Sign in / Sign up

Export Citation Format

Share Document