Beckwith-Wiedemann Syndrome

BECKWITH-WIEDEMANN SYNDROME

INTRODUCTION  Described by Beckwith (1963) and Wiedemann (1964).  Congenital anomalies: 1) Macroglossia  commonest manifestation, present in 80-95%. 2) Omphalocoele (same as exomphalus) 3) Hemilimb hypertrophy 4) Severe hypoglycaemia 5) Visceromegaly - Kidney and pancreatic hyperplasia 6) Adreno-cortical cytomegaly 7) Dome shaped diaphragm 8) ed incidence of malignant neoplasms - Wilms tumor (6%) 9) Mental retardation common – early control of hypoglycaemia important  Cardinal features 1. exomphalos – umbilical hernia 2. macroglossia 3. gigantism in the neonate.

Incidence  85% sporadic; the rest follow a variety of inheritance patterns: AD, etc.  1 in 14,000 births

Pathogenesis  caused by mutation in the chromosome 11p15.5 region coding for IGF  IGF2 overexpression plays an important role in somatic overgrowth and the development of embryonal tumours

Macroglossia

 More common causes of macroglossia include lymphatic malformations (most common), tumours, haemangiomas, AVM, Down’s.  Histology of tongue resections revealed normal tongue musculature which is hyper- trophic.  With growth of the child, the tongue usually moves back into the mouth.  Macroglossia results in a tongue that protrudes from the oral cavity and causes: a) an anterior open bite b) a prognathic mandibular appearance c) an open gonial angle d) an increased effective mandibular length

Treatment  Conservative measures include use of oral splints and laryngeal mask 2

 Surgery is indicated in the neonatal period if airway obstruction.  Other problems may also occur: feeding, speech, oral competence.  Partial glossectomy, done early, results in a correction of these abnormalities.  Surgical treatment should be performed after the age of 6 months and before problems in speech development occur.  Tongue reduction can allow earlier decannulation  Elective tracheostomy may be required for postoperative oedema if doesn’t already have one  Schendel, PRS July 1985  average age of surgery was 3.5 years.  Usually the authors aim for surgery at the age of 2 years, or sooner if airway obstruction is a problem.  orthognathic surgery at adolescence if prognathism persists.