Beckwith-Wiedemann syndrome

The Beckwith-Wiedemann syndrome is a rare genetic condition that can involve a variety of symptoms and abnormalities, and these manifestations vary from individual to individual. The disease can be inherited in an autosomal dominant manner, which means that familial clustering may occur, and such phenomena are observed in about one-quarter of the cases of the syndrome.

Children born with the syndrome often come into the world with greater birth weight and height, and their growth rate is also accelerated, especially in the early years. Asymmetry of the body, resulting from greater growth on one side of the body, is also a common presentation. Additionally, organs may differ from normal size, particularly the tongue, which can significantly enlarge in many cases, but other facial deformities may also be observed.

It is important to know that children with Beckwith-Wiedemann syndrome often experience a sudden drop in blood sugar levels after birth, and these patients are also at a higher risk of developing childhood tumors.

The symptoms of Beckwith-Wiedemann syndrome

Newborns with Beckwith-Wiedemann syndrome are often born earlier than the normal gestational period, but their birth weight is generally much higher. Their growth during childhood is typically faster, which tends to moderate by the age of 7-8 years. About one-quarter of the patients experience unilateral enlargement of the body, known as hemihyperplasia.

These children often suffer from abdominal wall abnormalities, the most common of which is an umbilical hernia, and in more severe cases, an omphalocele, which means that internal organs protrude through the umbilicus to the outside world, covered by a thin membrane. Certain organs in children with the syndrome, such as the spleen, liver, and kidneys, may also be larger than normal.

In the case of the kidneys, various abnormalities may occur, such as underdevelopment or dilation of the urinary tract, which can lead to decreased kidney function. The genitalia may also be affected, such as undescended testicles and abnormal placement of the urethra on the penis.

Among cranial and facial deformities, common issues include underdevelopment of the eye sockets, protrusion of the jaw, which leads to improper alignment of the teeth, as well as the appearance of vascular spots on the skin, which are consequences of vascular abnormalities. As the individual ages, these spots typically fade. An enlarged tongue can also cause feeding, breathing, and speech problems.

Furthermore, congenital heart defects may also be observed in affected individuals, particularly in the form of defects in the walls between the atria and ventricles.

The diagnosis of the disease

The diagnosis of Beckwith-Wiedemann syndrome is based on various methods, including physical examinations and laboratory tests. Particular attention should be given to the family history, as previous similar cases in the family highlight the importance of fetal ultrasound examinations.

Fetuses with Beckwith-Wiedemann syndrome exhibit larger sizes relative to gestational age, and the amount of amniotic fluid is typically higher. Monitoring the drop in blood sugar levels after birth, as well as regular medical check-ups and tumor screenings during childhood, is essential to prevent cancerous diseases.

The treatment of Beckwith-Wiedemann syndrome

The treatment of Beckwith-Wiedemann syndrome is highly individualized, as the symptoms vary widely, and each patient requires a different approach. Therapy typically involves collaboration among physicians from multiple specialties who target the various symptoms.

In certain cases, such as respiratory problems caused by an excessively large tongue, surgical intervention may be necessary. Tongue reduction surgery is usually performed between the ages of 2-4 years to improve breathing and feeding difficulties. Since the syndrome has many manifestations, treatment continuously adapts to the individual needs of the patient to ensure the best possible quality of life.