A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS)

Aleksandra Janchevska; Velibor Tasic; Nevenka Laban; Momir Polenakovic; Zoran Gucev; Nadine Bachmann; Carsten Bergmann

doi:10.2478/prilozi-2018-0052

A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS)

Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2018 Dec 1;39(2-3):131-135. doi: 10.2478/prilozi-2018-0052.

Authors

Aleksandra Janchevska¹, Velibor Tasic¹, Nevenka Laban¹, Momir Polenakovic², Zoran Gucev¹, Nadine Bachmann³, Carsten Bergmann³

Affiliations

¹ Medical Faculty, Skopje, Republic of Macedonia.
² Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.
³ Center for Human Genetics, Bioscientia Institute for Medical Diagnostics Ingelheim, Germany.

PMID: 30864369
DOI: 10.2478/prilozi-2018-0052

Abstract

Objectives: Molecular characterization of a patient with BWS.

Clinical presentation and intervention: A 4-year-old boy with overgrowth (weight above 99th and height at 99th percentile) had longitudinal hemihypertrophy of the tongue and left cheek. In addition, there was a difference of one centimeter in the circumference of the left and right leg. Molecular genetic analysis revealed hypomethylation of KvDRM1 (LIT1) in the imprinting control region-2 (ICR2) on chromosome 11p15.5 and a normal methylation pattern of the H19-differentially methylated region (H19-DMR) in the ICR1. The estimated tumor risk was 1-5%.

Conclusion: This patient with clinical characteristics of BWS has an imprinting defect associated with a low risk of embryonal tumors.

Keywords: Beckwith Wiedemann Syndrome (BWS); embryonal tumors; hypomethylation; overgrowth.

Publication types

Case Reports

MeSH terms

Beckwith-Wiedemann Syndrome / genetics*
Beckwith-Wiedemann Syndrome / pathology*
Child, Preschool
DNA Methylation / genetics*
Genomic Imprinting
Humans
Male