Welcoming you for any type of article submission for the upcoming issue on/before February 26, 2021.

Case Report
Volume 5 Issue 3 - 2020
Unusual Case of Beckwith-Wiedemann Syndrome with Spontaneous Resolution of a Hepatic Mass
Misha Sodhi1, Dineeta Kubhar2, Shilpa Mehta1, Lucy Chang2, Naomi Yachelevich3 and Bina Shah1*
1Division of Pediatric Endocrinology, Department of Pediatrics, New York University School of Medicine, New York, NY, USA
2Department of Pediatrics, New York University School of Medicine, New York, NY, USA
3Division of Genetics, New York University School of Medicine, New York, NY, USA
*Corresponding Author: Bina C Shah, Division of Pediatric Endocrinology, Department of Pediatrics, New York University School of Medicine, New York, NY, USA.
Received: January 31, 2020; Published: February 27, 2020


Beckwith-Wiedemann Syndrome (BWS) is an overgrowth syndrome with risk for embryonal tumors. Over expression of paternal growth promoters and decreased expression of maternal growth suppressors are believed to underlie these tumors. We report a full term, large for date female with BWS. Initial serum alpha fetoprotein (AFP) was 36,790 ng/ml (1,212 - 49,039 ng/ml) on day of life (DOL) 7, which increased to 119,797 ng/ml (704-29,027 ng/ml) by DOL19, warranting evaluation to rule out hepatoblastoma. Abdominal ultrasound (US) and MRI on DOL 20 showed no mass. Thereafter, serial AFP levels quickly declined: 91,681 ng/ml at 1 month, 24092 ng/ml at 2 months, 1207 ng/ml at 3 months of age but the abdominal US at age 3 months (done as part of surveillance) showed a mass in the right lobe of the liver. A repeat US at 3.5 months showed an increase in the size of the mass despite down trending serum AFP (785 ng/ml), and features of a vascular lesion (Hemangioma). Vigilant follow up with US and AFP was continued given the high risk of tumors. Imaging showed a decrease in size of the hepatic mass starting at 4 months of age and complete resolution by 9 months of age; confirming an involuting hemangioma. In conclusion, this is an unusual case of an isolated hepatic hemangioma associated with BWS that spontaneously resolved. Hemangiomas should be considered in the differential of hepatic masses especially with discordant AFP levels.

Keywords: Beckwith-Wiedemann Syndrome; Spontaneous Resolution; Hepatic Mass


  1. Shuman C., et al. “Beckwith-Wiedemann Syndrome”. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K., et al. editors. GeneReviews((R)). Seattle (WA): University of Washington, Seattle University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved (1993).
  2. Brioude F., et al. “Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement”. Nature Reviews Endocrinology 14.4 (2018): 229-249.
  3. Feka P., et al. “Beckwith-Wiedemann syndrome with hepatoblastoma and infantile hepatic hemangioma: A patient-specific management”. Journal of Pediatric Surgery Case Reports 1.4 (2013): 53-55.
  4. Drut R., et al. “Hepatic hemangioendotheliomas, placental chorioangiomas, and dysmorphic kidneys in Beckwith-Wiedemann syndrome”. Pediatric Pathology 12.2 (1992): 197-203.
  5. Hamada Y., et al. “Hepatoblastoma associated with Beckwith-Wiedemann syndrome and hemihypertrophy”. Pediatric Surgery International 19.1-2 (2003): 112-114.
  6. Francisco T., et al. “Multiple haemangiomas, diaphragmatic eventration and Beckwith-Wiedemann syndrome: an unusual association”. BMJ Case Reports (2013).
  7. Maas SM., et al. “Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups”. American Journal of Medical Genetics Part A 170.9 (2016): 2248-2260.
  8. Ferguson-Smith AC. “Genomic imprinting: the emergence of an epigenetic paradigm”. Nature Reviews Genetics 12.8 (2011): 565.
  9. Lewis A and Reik W. “How imprinting centres work”. Cytogenetic and Genome Research 113.1-4 (2006): 81-89.
  10. Mussa A., et al. “Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol”. The Journal of Pediatrics 176 (2016): 142-149.e1.
  11. Trobaugh-Lotrario AD., et al. “Hepatoblastoma in children with Beckwith-Wiedemann syndrome: does it warrant different treatment?” Journal of Pediatric Hematology/Oncology 36.5 (2014): 369-373.
  12. Pan FS., et al. “Infantile hepatic hemangioendothelioma in comparison with hepatoblastoma in children: clinical and ultrasound features”. Hepatitis Monthly 13.8 (2013): e11103.
  13. Zimmermann A. “Infantile Hepatic Hemangioma/Hemangioendothelioma”. Tumors and Tumor-Like Lesions of the Hepatobiliary Tract: General and Surgical Pathology. Cham: Springer International Publishing (2017): 937-957.
  14. Feng ST., et al. “CT and MR imaging characteristics of infantile hepatic hemangioendothelioma”. European Journal of Radiology 76.2 (2010): e24-e29.
  15. Everman DB., et al. “Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome”. The Journal of Pediatrics 137.1 (2000): 123-127.
  16. Elbracht M., et al. “[Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement]”. Klinische Padiatrie 230.3 (2018): 151-159.
  17. Cooper WN., et al. “Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome”. European Journal of Human Genetics: EJHG 13.9 (2005): 1025-1032.
  18. Mussa A., et al. “Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome”. European Journal of Pediatrics 170.11 (2011): 1407-1411.
  19. Mussa A and Ferrero GB. “Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome”. American Journal of Medical Genetics Part A 173.3 (2017): 585-587.
  20. Duffy KA., et al. “The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome”. American Journal of Medical Genetics Part A 173.3 (2017): 581-584.
  21. Kalish JM., et al. “Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma”. Clinical Cancer Research 23.13 (2017): e115-e122.
  22. Clericuzio CL., et al. “Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia”. The Journal of Pediatrics 143.2 (2003): 270-272.
  23. Chung EM., et al. “From the archives of the AFIP: Pediatric liver masses: radiologic-pathologic correlation. Part 2. Malignant tumors”. Radiographics 31.2 (2011): 483-507.
  24. Chung EM., et al. “From the archives of the AFIP: Pediatric liver masses: radiologic-pathologic correlation part 1. Benign tumors”. Radiographics 30.3 (2010): 801-826.
  25. Herman TE., et al. “Beckwith-Wiedemann syndrome and splenic hemangioma: report of a case”. Pediatric Radiology 27.4 (1997): 350-352. 
Citation: Bina Shah., et al. “Unusual Case of Beckwith-Wiedemann Syndrome with Spontaneous Resolution of a Hepatic Mass”. EC Endocrinology and Metabolic Research 5.2 (2020): 01-08.

PubMed Indexed Article

EC Pharmacology and Toxicology
LC-UV-MS and MS/MS Characterize Glutathione Reactivity with Different Isomers (2,2' and 2,4' vs. 4,4') of Methylene Diphenyl-Diisocyanate.

PMID: 31143884 [PubMed]

PMCID: PMC6536005

EC Pharmacology and Toxicology
Alzheimer's Pathogenesis, Metal-Mediated Redox Stress, and Potential Nanotheranostics.

PMID: 31565701 [PubMed]

PMCID: PMC6764777

EC Neurology
Differences in Rate of Cognitive Decline and Caregiver Burden between Alzheimer's Disease and Vascular Dementia: a Retrospective Study.

PMID: 27747317 [PubMed]

PMCID: PMC5065347

EC Pharmacology and Toxicology
Will Blockchain Technology Transform Healthcare and Biomedical Sciences?

PMID: 31460519 [PubMed]

PMCID: PMC6711478

EC Pharmacology and Toxicology
Is it a Prime Time for AI-powered Virtual Drug Screening?

PMID: 30215059 [PubMed]

PMCID: PMC6133253

EC Psychology and Psychiatry
Analysis of Evidence for the Combination of Pro-dopamine Regulator (KB220PAM) and Naltrexone to Prevent Opioid Use Disorder Relapse.

PMID: 30417173 [PubMed]

PMCID: PMC6226033

EC Anaesthesia
Arrest Under Anesthesia - What was the Culprit? A Case Report.

PMID: 30264037 [PubMed]

PMCID: PMC6155992

EC Orthopaedics
Distraction Implantation. A New Technique in Total Joint Arthroplasty and Direct Skeletal Attachment.

PMID: 30198026 [PubMed]

PMCID: PMC6124505

EC Pulmonology and Respiratory Medicine
Prevalence and factors associated with self-reported chronic obstructive pulmonary disease among adults aged 40-79: the National Health and Nutrition Examination Survey (NHANES) 2007-2012.

PMID: 30294723 [PubMed]

PMCID: PMC6169793

EC Dental Science
Important Dental Fiber-Reinforced Composite Molding Compound Breakthroughs

PMID: 29285526 [PubMed]

PMCID: PMC5743211

EC Microbiology
Prevalence of Intestinal Parasites Among HIV Infected and HIV Uninfected Patients Treated at the 1o De Maio Health Centre in Maputo, Mozambique

PMID: 29911204 [PubMed]

PMCID: PMC5999047

EC Microbiology
Macrophages and the Viral Dissemination Super Highway

PMID: 26949751 [PubMed]

PMCID: PMC4774560

EC Microbiology
The Microbiome, Antibiotics, and Health of the Pediatric Population.

PMID: 27390782 [PubMed]

PMCID: PMC4933318

EC Microbiology
Reactive Oxygen Species in HIV Infection

PMID: 28580453 [PubMed]

PMCID: PMC5450819

EC Microbiology
A Review of the CD4 T Cell Contribution to Lung Infection, Inflammation and Repair with a Focus on Wheeze and Asthma in the Pediatric Population

PMID: 26280024 [PubMed]

PMCID: PMC4533840

EC Neurology
Identifying Key Symptoms Differentiating Myalgic Encephalomyelitis and Chronic Fatigue Syndrome from Multiple Sclerosis

PMID: 28066845 [PubMed]

PMCID: PMC5214344

EC Pharmacology and Toxicology
Paradigm Shift is the Normal State of Pharmacology

PMID: 28936490 [PubMed]

PMCID: PMC5604476

EC Neurology
Examining those Meeting IOM Criteria Versus IOM Plus Fibromyalgia

PMID: 28713879 [PubMed]

PMCID: PMC5510658

EC Neurology
Unilateral Frontosphenoid Craniosynostosis: Case Report and a Review of the Literature

PMID: 28133641 [PubMed]

PMCID: PMC5267489

EC Ophthalmology
OCT-Angiography for Non-Invasive Monitoring of Neuronal and Vascular Structure in Mouse Retina: Implication for Characterization of Retinal Neurovascular Coupling

PMID: 29333536 [PubMed]

PMCID: PMC5766278

EC Neurology
Longer Duration of Downslope Treadmill Walking Induces Depression of H-Reflexes Measured during Standing and Walking.

PMID: 31032493 [PubMed]

PMCID: PMC6483108

EC Microbiology
Onchocerciasis in Mozambique: An Unknown Condition for Health Professionals.

PMID: 30957099 [PubMed]

PMCID: PMC6448571

EC Nutrition
Food Insecurity among Households with and without Podoconiosis in East and West Gojjam, Ethiopia.

PMID: 30101228 [PubMed]

PMCID: PMC6086333

EC Ophthalmology
REVIEW. +2 to +3 D. Reading Glasses to Prevent Myopia.

PMID: 31080964 [PubMed]

PMCID: PMC6508883

EC Gynaecology
Biomechanical Mapping of the Female Pelvic Floor: Uterine Prolapse Versus Normal Conditions.

PMID: 31093608 [PubMed]

PMCID: PMC6513001

EC Dental Science
Fiber-Reinforced Composites: A Breakthrough in Practical Clinical Applications with Advanced Wear Resistance for Dental Materials.

PMID: 31552397 [PubMed]

PMCID: PMC6758937

EC Microbiology
Neurocysticercosis in Child Bearing Women: An Overlooked Condition in Mozambique and a Potentially Missed Diagnosis in Women Presenting with Eclampsia.

PMID: 31681909 [PubMed]

PMCID: PMC6824723

EC Microbiology
Molecular Detection of Leptospira spp. in Rodents Trapped in the Mozambique Island City, Nampula Province, Mozambique.

PMID: 31681910 [PubMed]

PMCID: PMC6824726

EC Neurology
Endoplasmic Reticulum-Mitochondrial Cross-Talk in Neurodegenerative and Eye Diseases.

PMID: 31528859 [PubMed]

PMCID: PMC6746603

EC Psychology and Psychiatry
Can Chronic Consumption of Caffeine by Increasing D2/D3 Receptors Offer Benefit to Carriers of the DRD2 A1 Allele in Cocaine Abuse?

PMID: 31276119 [PubMed]

PMCID: PMC6604646

EC Anaesthesia
Real Time Locating Systems and sustainability of Perioperative Efficiency of Anesthesiologists.

PMID: 31406965 [PubMed]

PMCID: PMC6690616

EC Pharmacology and Toxicology
A Pilot STEM Curriculum Designed to Teach High School Students Concepts in Biochemical Engineering and Pharmacology.

PMID: 31517314 [PubMed]

PMCID: PMC6741290

EC Pharmacology and Toxicology
Toxic Mechanisms Underlying Motor Activity Changes Induced by a Mixture of Lead, Arsenic and Manganese.

PMID: 31633124 [PubMed]

PMCID: PMC6800226

EC Neurology
Research Volunteers' Attitudes Toward Chronic Fatigue Syndrome and Myalgic Encephalomyelitis.

PMID: 29662969 [PubMed]

PMCID: PMC5898812

EC Pharmacology and Toxicology
Hyperbaric Oxygen Therapy for Alzheimer's Disease.

PMID: 30215058 [PubMed]

PMCID: PMC6133268

News and Events

December Issue Release

We always feel pleasure to share our updates with you all. Here, notifying you that we have successfully released the November issue of respective journals and the latest articles can be viewed on the current issue pages.

Submission Deadline for Upcoming Issue

ECronicon delightfully welcomes all the authors around the globe for effective collaboration with an article submission for the upcoming issue of respective journals. Submissions are accepted on/before December 19, 2022.

Certificate of Publication

ECronicon honors with a "Publication Certificate" to the corresponding author by including the names of co-authors as a token of appreciation for publishing the work with our respective journals.

Best Article of the Issue

Editors of respective journals will always be very much interested in electing one Best Article after each issue release. The authors of the selected article will be honored with a "Best Article of the Issue" certificate.

Certifying for Review

ECronicon certifies the Editors for their first review done towards the assigned article of the respective journals.

Latest Articles

The latest articles will be updated immediately on the articles in press page of the respective journals.