Wiedemann-Bekwita's syndrome

Description:

Bekvita-Wiedemann's (Beckwith-Wiedemann) syndrome was for the first time described by J.В. Beckwith in 1963 and H.R. Wiedemann in 1964. This syndrome is characterized by the classical triad including a macrosomia, an omphalocele and a macroglossia.
Synonyms. An ekzomfaliya syndrome - macroglossias - giantism.
Frequency of occurrence is estimated at the level of 0,72 on 10 000 childbirth. In literature more than 500 clinical observations of this disease are described.

Reasons of a syndrome of Wiedemann-Bekwita:

In most cases Beckwith-Wiedemann syndrome arises sporadic and has an autosomal and recessive mode of inheritance with incomplete penetrance and variable expressivity. It is supposed that this disease can arise owing to the reorganizations involving the region of a short limb 11 r15.

Symptoms of a syndrome of Wiedemann-Bekwita:

The name "EMG syndrome" comes from three of its most manifest signs – экзомфалос (E), a macroglossia (M) and giantism (G). Among signs inherent to a syndrome the main are the macroglossia, funic hernia and other umbilical anomalies, and also a hypoglycemia.

The macroglossia comes to light at any age of the child, it is often noted since the birth. Language can not be located in a mouth at the expense of what the mouth of the child is open, and the person reminds that at the patient with a hypothyroidism. The increased language complicates suction and even breath of the newborn, at more senior children note dizartrichesky frustration.

The hypoglycemia at the newborn demonstrates already on the first - third day. The comas developing at the expense of it can cause the death of the child on the first year of life or the crushing organic lesion of a brain which is followed by mental retardation. Development of hypoglycemic states is connected with a hyperplasia of insular cells of the pancreas leading to a giperinsulinemiya. Connect with the hyperproduction of the insulin possessing anabolic action beginning still vnutriutrobno as a macroglossia, a macrosomia, a vistseromegaliya, and predisposition to development of tumors of parenchymatous bodies. The hyperglycemia phenomena spontaneously decrease within the first months of life of the patient.

Tendency to increase in body weight is noted already at the birth, it usually exceeds 4000 g, and length – 52 cm. The pre-natal vistseromegaliya, apparently, is the reason of formation of various hernias, including an omphalocele, characteristic of a syndrome (funic hernia). Funic hernia is diagnosed for the newborn and can be various in size, sometimes reaching the sizes of a children's head.

The macrosomia with increase in muscular tissue and a hypodermic fatty layer is noted since the birth or develops postnatalno. Post-natal giantism belongs to less constant signs, is sometimes shown by increase in one half of a body.

Treatment of a syndrome of Wiedemann-Bekwita:

Drug treatment: specific treatment of a hyper dysinsulinism at newborns.

Surgical treatment of embryonal neoplaziya by standard techniques.
Forecast. Bekvita-Videmann's syndrome has the different forecast for life. It is defined by timely diagnosis of a hypoglycemia (prevention of mental retardation) and early diagnosis of embryonal tumors.