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Beckwith-Wiedemann Syndrome (BWS)

Two physicians independently reported the first recognized cases of BWS in the 1960’s.It is a rare genetic disorder.
The etiology of Beckwith-Wiedemann syndrome is complex and genetic and/or epigenetic alterations have been described. In approximately 15% of patients, Beckwith-Wiedemann syndrome is inherited as an autosomal dominant pattern with variable expressivity and incomplete penetrance; 2% of patients have cytogenetics
abnormalities and the remainder are sporadic.

The incidence has been report to be approximately 1:13,700 births. The most common phenotypes associated are:

a) Macroglossia: larger than usual for an infant, may disturb the child's ability to eat, breathe or speak. In severe cases, corrective surgery may be necessary. The enlargement is no longer apparent by 6-8 years of age.

b) Abdominal wall defects (omphalocele, umbilical hernia, diastasis recti).

c) Increased growth: birth weight and length (usually above the mean), visceromegaly (particularly kidneys, liver, and pancreas) and hemihyperplasia (usually all or part of one side of the body).

d) Ear lobe creases, first described by Irving (1967) and then used as one of the criteria for diagnosis of the illness, and/or pit indentations on the posterior helix.

Macroglossia, together with omphalocele or other umbilical abnormalities, allows recognition of the disorder at birth. Sometimes hemihyperplasia is not present at birth but becomes apparent later in childhood. It can be noted in approximately 12.5% of the cases and is present in 40% of the children who develop tumors.

The risk situations are:

a) Hypoglycemia, which occurs shortly after birth. Although it is usually temporary, if untreated, it can cause seizures and hypoxia, leading to severe complications, including mental deficiency.

b) Premature birth and its complications.

c) Development of tumors: children with Beckwith-Wiedemann syndrome have a 7-21% risk for the development of embryonic malignancies, most notably Wilms' tumor of the kidney,11-13 although a wide variety of benign and malignant tumors have been reported, including hepatoblastoma, adrenocortical carcinoma, rhabdomyosarcoma and neuroblastoma.

Medical Care

Patients with Beckwith-Wiedemann syndrome (BWS) may require frequent feedings or diazoxide to treat their hypoglycemia.The goal of therapy is maintenance of plasma glucose levels above 60 mg/dL at all times.

Surgical Care

* Embryonal tumors require appropriate oncologic treatment modalities, which often includes nephrectomy.
* Nephron-sparing partial nephrectomy is feasible if embryonal renal tumors are detected early, highlighting the need for frequent ultrasonographic screening.
* Macroglossia seldom requires resection to attain an independent airway. Macroglossia has been surgically reduced, with variable cosmetic outcomes.

Consultations: * Pediatric oncologist * Pediatric surgeon

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