Treatment for Beckwith-Wiedemann syndrome, which is a rare congenital disease that causes overgrowth of some parts of the body or organs, varies according to the changes caused by the disease and, therefore, treatment is usually guided by a team from several health professionals that can include the pediatrician, the cardiologist, the dentist and several surgeons, for example.
Thus, depending on the symptoms and malformations caused by Beckwith-Wiedemann syndrome, the main types of treatments are:
- Decreased blood sugar levels: injections of serum with glucose are made directly into the vein and to prevent the lack of sugar from causing serious neurological changes; Umbilical or inguinal hernias: treatment is usually not necessary as most hernias disappear by the first year of life, however, if the hernia continues to increase in size or if it does not disappear until 3 years of age, surgery may be necessary.; Very large tongue: surgery can be used to correct the size of the tongue, however, it should only be done after 2 years of age. Up to that age, you can use some silicone nipples to help your baby eat more easily; Cardiac or gastrointestinal problems: medicines are used to treat each type of problem and they must be taken throughout life. In the most severe cases, the doctor may recommend performing surgery to repair serious changes in the heart, for example.
In addition, babies born with Beckwith-Wiedemann syndrome are more likely to have cancer, so if tumor growth is identified, it may also be necessary to have surgery to remove tumor cells or other treatments such as chemotherapy or radiation therapy..
However, after treatment, most babies with Beckwith-Wiedemann syndrome develop in a completely normal manner, with no problems in adulthood.
Diagnosis of Beckwith-Wiedemann syndrome
The diagnosis of Beckwith-Wiedemann syndrome can be made only by observing the malformations after the baby is born or through diagnostic tests, such as abdominal ultrasound, for example.
In addition, to confirm the diagnosis, the doctor can also order a blood test to do a genetic test and assess whether there are changes in chromosome 11, as this is the genetic problem that is at the origin of the syndrome.
Beckwith-Wiedemann syndrome can pass from parents to children, so if any parent has had the disease as a baby, genetic counseling is recommended before becoming pregnant.
