|Year : 2018 | Volume
| Issue : 3 | Page : 162-165
Beckwith—Wiedemann syndrome in the two newborns
Aditya Pratap Singh1, Arun Kumar Gupta1, Rajlaxmi Pardeshi2, Ramesh Tanger1
1 Department of Pediatric Surgery, SMS Medical College, Jaipur, Rajasthan, India
2 Department of Obstetrics and Gynecology, SMS Medical College, Jaipur, Rajasthan, India
|Date of Web Publication||2-Aug-2018|
Dr. Aditya Pratap Singh
Near the Mali Hostel, Main Bali Road, Falna, Dist-Pali, Rajasthan
Source of Support: None, Conflict of Interest: None
The baby with Beckwith—Wiedemann syndrome (BWS) usually presents with exomphalos, macroglossia, and gigantism. As children with BWS are at increased risk of childhood cancer, they should be followed-up strictly for cancer screening. Here, we are reporting two cases with exomphalos, macroglossia, gigantism, and hemihypertrophy. We have corrected the exomphalos and advised him for follow-up for cancer screening.
Keywords: Exomphalos, gigantism, hemihypertrophy, macroglossia
|How to cite this article:|
Singh AP, Gupta AK, Pardeshi R, Tanger R. Beckwith—Wiedemann syndrome in the two newborns. J Clin Neonatol 2018;7:162-5
Beckwith—Wiedemann syndrome (BWS) is the most common overgrowth syndrome in infancy. It is a rare congenital disease of low prevalence. However, it presents a high prevalence within the genetic pathologies of overgrowth. This syndrome presents typical manifestations such as congenital abdominal wall defects as hernia (exomphalos), large tongues (macroglossia), and large bodies and/or long limbs (gigantism). In addition, some children with BWS have other findings including nevus flammeus, prominent occiput, midface hypoplasia, hemihypertrophy, genitourinary anomalies (enlarged kidneys), cardiac anomalies, musculoskeletal abnormalities, and hearing loss. In addition, some premature newborns with BWS do not have macroglossia until closer to their anticipated delivery date. Some of the characteristic features of the syndrome may not be detected at birth, but develop later in life. Here, we are reporting two cases of the BWS in neonates with review of the literature.
Parents of the newborn female child presented to us with complaint of a swelling over umbilicus since birth. It was reducible with size around 4 cm × 4 cm and covered with a thin parchment-like membrane [Figure 1]. The baby was a product of normal vaginal delivery. Antenatal ultrasonography (USG) could not be done. There was no history of birth asphyxia. Another sibling is 3 years of age whose birth weight was 2.7 kg and had no significant postnatal events and normal physical, neurological development. On examination, the baby weight was 4.0 kg, (macrosomia), macroglossia, and right-sided hemihypertrophy of the body. Right upper limb and lower limbs are larger than the left one in both length and mid-thigh circumference. On investigation, blood sugar was normal. Complete blood count, serum electrolyte, renal function test, and liver function test were normal. USG abdomen and echocardiography were normal. We repaired the exomphalos. Postoperative period was uneventful, and the baby was discharged after 7 days. Baby has been under follow-up for the last 3 months.
|Figure 1: Baby shows repaired exomphalos, macroglossia, right-sided hemihypertrophy, and macrosomiawere|
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Parents of the newborn female child presented to us with complaint of a swelling over umbilicus since birth. It was reducible with a size around 4 cm × 3 cm and covered with a thin parchment-like membrane [Figure 2]. The baby was a product of normal vaginal delivery. Antenatal USG could not be done. There was no history of birth asphyxia. There was no in vitro fertilization (IVF). She was the first child with birth weight of 2.5 kg. On examination, there was enlarged tongue (macroglossia) with left side hemihypertrophy. The left upper limb and lower limbs are larger than the right one in both length and mid-thigh circumference. On investigation, blood sugar was low (35 mg/dl), and the child was admitted and treated for hypoglycemia. Complete blood count, serum electrolyte, renal function test, and liver function test was normal. USG abdomen showed enlarged kidney on both sides. Echocardiography was normal. We repaired the exomphalos. Postoperative period was uneventful, and the baby was discharged after 7 days. The baby has been under follow-up for the last 3 months.
|Figure 2: Baby shows repaired exomphalos, macroglossia, and left-sided hemihypertrophy|
Click here to view
BWS has an estimated incidence of one in 13,700. The exact incidence of BWS is unknown in our country because of the marked variability in the syndrome's presentation and difficulties with diagnosis.
The number of reported infants born with BWS is most likely low because many are born with BWS, but have clinical features that are less prominent and therefore missed. BWS has been documented in a variety of ethnic groups and occurs equally in males and females.
Clinically, it presents in diverse forms, its most common features being macroglossia (97%—100%) which can be asymmetric, defects of the abdominal wall (77%—80%), hypoglycemia (63%), and macrosomy (68%).,,,, There are other minor clinical expressions that sometimes are unnoticed such as the predisposition to neoplasms or embrionary tumors, placentomegaly, grooves in the earlobe, cleft palate, renal alterations, visceromegaly, refractory hyperinsulinemia, polydactyly, and mental retardation., The acronym electromyogram syndrome was used earlier to describe exomphalos, macroglossia, and gigantism.
The diagnosis of this syndrome is done mainly on the basis of the existence of three major criteria such as macroglossia, defects of the anterior abdominal wall, hypoglycemia at birth, or previous to parturition.,
Another definition presented by Elliot et al. includes the presence of either three major features (anterior abdominal wall defect, macroglossia, or prepostnatal overgrowth) or two major plus three minor findings (ear pits, nevus flammeus, neonatal hypoglycemia, nephromegaly, or hemihyperplasia). In our case, there were three major features present including macrosomia, macroglossia, and exomphalos, while in the second case, there were two major (macroglossia and exomphalos) and three minor (hypoglycemia, hemihypertrophy, and enlarged kidney).
This genetic syndrome has its apparent origin in an alteration of the expression of genes from de chromosome 11 region p15.5, which can be sporadic (85%), inherited (15%), or because of chromosomic abnormalities (1%).,,,,, This alteration has been found primarily on the IGF2 genes, which is a fetal growth factor, and in the H19 gene, which is thought to be a tumor suppressor gene.
Its origin is known to be genetic; however, its mechanism of generation is not clear. Children conceived through IVF have a three- to fourfold increased chance of developing BWS. It is thought that this is due to genes being turned on or off by the IVF procedures.
The prenatal diagnosis, which with current technology is increasingly certain, represents an important tool because it allows two situations. On the one hand, to prepare the parents, motivate them to have a periodic follow-up because of the increasing possibilities of developing tumors, and genetic counseling in case of the desire to have more children. The second situation is that it allows the planification of the surgical interventions necessary for the correction of defects present in the child, omphalocele/umbilical hernia, besides establishing a norm to prevent the consequences of metabolic alterations, for instance, a neonatal hypoglycemia in the nervous system.
Regarding the diagnosis of these patients, it must be as precocious as possible. With current imagenology methods, it is possible to determine previous to birth if a baby presents some feature of BWS. This examination could be reinforced by direct diagnostic techniques such as amniocentesis or chorionic villus sampling, with the technical difficulties and consequences that these could carry. During pregnancy, by ultrasonic studies, it is possible to determine the renal function or the presence of embryonal tumors, by ultrasonic studies during the pregnancy.
The local treatment of this syndrome is focused to limiting the functional alterations such as those caused by macroglossia., The defects of the anterior abdominal wall must be treated immediately or within few months from birth. Another expression present is macrosomy. With regard to it, the literature indicates that the diagnosis must be strict because there is a percentage of patients with size alterations without apparent cause, which we could find in genetic alterations,, especially if it associates to other systemic alterations that could orient toward BWS.,
Abdominal wall defects are common in newborns with BWS and may require surgical treatment. Newborns with an omphalocele typically require surgery to place the abdominal contents back into the abdomen to prevent serious infection or shock.
Neonatal hypoglycemia, low blood glucose in the 1st month of life, occurs in about half of children with BWS. Most of these hypoglycemic newborns are asymptomatic and have a normal blood glucose level within days. However, untreated persistent hypoglycemia can lead to permanent brain damage. Hypoglycemia in newborns with BWS should be managed according to standard protocols for treating neonatal hypoglycemia. Usually, this hypoglycemia can easily be treated with more frequent feedings or medical doses of glucose.
In patients with some systemic alteration of growth, such as a hyperinsulinemia refractory to treatment and without a clear diagnosis, a genetic study becomes important. For parents with familial background, genetic counseling gains importance, whereas it would establish opportune norms of treatment and limit the consequences that a hypoglycemia could provoque at birth, fundamentally the development of neurologic damage.
Macroglossia, a large tongue, is a very common (>90%) and prominent feature of BWS.
Facing a macroglossia of unknown cause or any other of the major diagnostic criteria, the clinician can suspect a BWS. The diagnosis of macroglossia is based on the morphology and protrusion; situation that carries functional, growth, psychological, or feeding problems. In these cases, macroglossia constitutes a true muscular hypertrophy, which is why glossectomy rarely relapses. Surgical glossectomy in this type of patients is recommended as soon as possible. This fact has been studied, and some authors determined an alteration in taste perception and phonation, while other studies show the opposite.
At the maxillofacial level, it is very relevant to detect macroglossia precociously, whereas its opportune treatment results in the avoidance of any type of facial growth alterations, such as dentoesqueletal alterations, protrusion of teeth, respiratory alterations, open bite, increased goniac angle, increase in mandibular dimensions with prognatic appearance, and swallowing. On the other hand, from the orthodontic point of view, the macroglossia intervention becomes necessary before starting the orthodontic treatment.,
Hemihypertrophy (hemihyperplasia) is an abnormal asymmetry between the left and right sides of the body occurring when one part of the body grows faster than normal. Isolated hemihypertrophy is associated with a higher risk for cancer. As a result, children with hemihypertrophy should follow the general cancer screening protocol for BWS. Hemihypertrophy can also cause various orthopedic problems; hence, children with significant limb hemihyperplasia should be evaluated and followed by an orthopedic surgeon.
Most children (>80%) with BWS do not develop cancer; however, children with BWS are much more likely (600 times more) than other children to develop certain childhood cancers, particularly Wilms' tumor, pancreatoblastoma and hepatoblastoma, neuroblastoma, and rhabdomyosarcoma. Early diagnosis allows physicians to treat the cancer when it is at an early stage. In addition, there is less toxic treatment. Given the importance of early diagnosis, all children with BWS should receive cancer screening. The overall risk occurrence of Wilms' tumor in BWS is 3%—5% of the cases. The relative risk of cancer associated with macroglossia is 1.7 in BWS.
The prevention of this type of syndrome does not have a defined protocol; however, there have been orientations established for parents in risk situation. There are two risk factors including family history of BWS and ultization of some type of assisted reproduction treatment (ART).,, The ART has been under investigation, since there has been an increase observed in the number of cases of BWS or alterations in gene expressions associated to BWS in children born by ART, unlike controls born by natural means., No relation has been found between socioeconomic status and BWS.
Differential diagnosis of BWS can be Sotos syndrome, Silver— Russell syndrome More Details, Fragile X syndrome, Berardinelli lip dystrophy syndrome, Marshall—Smith syndrome, and Weaver—Smith syndrome.
Children with BWS usually do very well and grow up to become the heights expected based on their parents' heights. As children with BWS are at increased risk of childhood cancer, they should follow-up strictly for cancer screening. An abdominal ultrasound every 3 months until at least 8 years of age is recommended and a blood test to measure alpha-fetoprotein every 6 weeks until at least 4 years of age. Families and physicians should determine screening schedules for specific patients, especially the age at which to discontinue screening, based on their own evaluation of the risk—benefit ratio.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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