Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a congenital disease that is characterized by excessively rapid growth at a younger age, asymmetry in the development of the body, an increased risk of developing cancer and some birth defects, and a violation of the child’s behavior. First described as a family form of omphalocele with macroglossia in 1964, by German doctor Hans-Rudolf Wiedemann. In 1969, J. Bruce Beckwith of Loma Linda University, California, described similar symptoms in several patients. Initially, Professor Wiedemann coined the term EMG syndrome to describe the combination of congenital umbilical hernia, macroglossia, and gigantism. Over time, this pathology was renamed Beckwith-Wiedemann syndrome (BWS).

[1], [2], [3]

Epidemiology

Beckwith-Wiedemann syndrome occurs with a frequency of 1 in 13,700 newborns.

[4], [5], [6], [7]

Causes of the beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome with a complicated type of inheritance, the locus of the disease is located on the short arm of chromosome 11 (CDKN1C, H19, IGF2, and KCNQ1OT1 genes). Abnormal methylation disrupts the regulation of these genes, which leads to overgrowth and other characteristic features of Beckwith-Wiedemann syndrome.

About 1% of all people with this syndrome have chromosomal abnormalities, such as rearrangements (translocations), abnormal copying (duplication), or loss (removal) of genetic material from chromosome 11.

Molecular genetic verification of changes in this locus is possible.

[8], [9], [10], [11], [12]

Symptoms of the beckwith-Wiedemann syndrome

The disease is characterized by premature rapid growth of a child at an early age. After 8 years, growth slows. In some children with Beckwith-Wiedemann syndrome, individual parts of the body on one side can grow to anomalously large sizes (the so-called hemihyperplasia), which leads to asymmetric appearance.

Some babies with Beckwith-Wiedemann syndrome have abnormally large tongue (macroglossia), which sometimes makes breathing and swallowing difficult, abnormally large abdominal organs (splanchnomegaly), skin folds or pits near the ears, hypoglycemia and kidney abnormalities.

Children have an increased risk of developing several types of cancer, in particular kidney cancer, Wilms tumor and hepatoblastoma.

[13], [14], [15]

Complications and consequences

Possible complications in patients with Beckwith-Wiedemann syndrome:

• probability of neonatal hypoglycemia (60%) with the development of seizures caused by transient hyperinsulinism;
• high frequency (10-40%) of embryonic tumors, especially with nephromegaly or somatic asymmetry of the body, requires observation and ultrasound of the kidneys 3 times a year until 3 years old and subsequently 2 times a year before 14 years old (timely diagnosis Wilms tumors).

[16]

Diagnostics of the beckwith-Wiedemann syndrome

The diagnosis of Beckwith-Wiedemann syndrome should be considered in children with abnormalities of the anterior wall of the abdomen (fetal or umbilical hernia, divergence of the rectus muscles), macroglossia, neonatal hypoglycemia and tumors (neuroblastoma, Wilms tumor, liver carcinoma).

Diagnostic criteria:

• Large body weight at birth or postnatal anticipation of physical development.
• Defects of closure of the anterior abdominal wall (fetal, umbilical hernia, diastasis of recti).
• Visceremealemia (nephromegaly, hepatomegaly, splenomegaly).
• Macroglossia.
• Unusual face (middle third hypoplasia, forehead skin hemangioma, "notches" on the ear lobe).

[17], [18], [19]

Treatment of the beckwith-Wiedemann syndrome

Defects of the abdominal wall are eliminated with the help of surgical treatment.

Hypoglycemia in newborns with BWS should be treated in accordance with standard protocols for the treatment of neonatal hypoglycemia.

Macroglossia often becomes less noticeable with age and does not require any treatment. In severe cases, macroglossia is eliminated by surgery. Some surgeons recommend surgery between 3 and 6 months.

Hemihypertrophy in severe cases is corrected by orthopedic methods.

[20]

Forecast

Beckwith-Wiedemann syndrome has a different prognosis for life. It is determined by the timely diagnosis of hypoglycemia (prevention of mental retardation) and early diagnosis of embryonic tumors.

Life expectancy is usually no different from healthy people.