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Beckwith-Wiedemann syndrome Causes and Risks:
The cause of Beckwith-Wiedemann syndrome is unknown. Evidence shows increased occurrences within a family, but a definite genetic inheritance has not been determined. Infants with low blood sugar ( hypoglycemia ) may have a defect in chromosome 11.
Affected children are large and at birth may have weighed more than 8 pounds. They have a characteristic facial appearance with a gaping mouth and large tongue. They may also have creases in their earlobes.
Infancy is a critical period because of severe hypoglycemia, omphalocele, and increased tumor development ( Wilm's tumor , adrenal carcinoma , and gonadoblastoma being most common). Children who survive infancy appear to be healthy, but long-term follow-up is unavailable.
Prevention:
There is no known prevention at this time.
Symptoms:
Signs and Tests:
Signs: - hypoglycemia ( low blood sugar )
- nevus flammeus (forehead birthmark)
- enlarged kidneys
- large fontanelle (enlarged soft spot)
- metopic ridge (a ridge in the forehead, caused by premature closure of the cranial suture just forward of anterior fontanelle)
- early bone maturation
Tests:
Treatment:
In infancy, hypoglycemia is treated with intravenous glucose solutions and corticosteroids. Careful attention must be paid to feeding and sleeping positions to avoid problems with the large tongue, which may cause feeding problems and respiratory difficulties. Omphaloceles must be repaired. In addition, affected children must be followed carefully for the appearance of tumors.
Prognosis:
Children who survive infancy do well, although there is no long term follow-up available. Mental function appears to be normal to very slightly decreased.
Complications:
Call Your Healthcare Provider:
This diagnosis is generally made in the hospital shortly after an infant's birth. If you have a child with Beckwith syndrome at home, and he or she develops any worrisome symptoms, call your health care provider immediately.
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