{
"topic": "Beckwith-Wiedemann Syndrome",
"slug": "beckwith-wiedemann-syndrome",
"category_id": 15209,
"passage_count": 14,
"source_chars": 11832,
"enough_material": true,
"references": [
{
"title": "Cover",
"author": "Vitalsource Download",
"pages": [
6337,
6523,
8344
]
},
{
"title": "Netters Pediatrics (Florin \u0422., Ludwig St.)",
"author": null,
"pages": [
784
]
},
{
"title": "Kliegman R. Nelson Textbook of Pediatrics 2-Volume Set 22ed 2024",
"author": null,
"pages": [
1031,
1035
]
},
{
"title": "Zitelli and Davis' Atlas of Pediatric Physical Diagnosis: Expert Consult - Online",
"author": null,
"pages": [
41
]
},
{
"title": "Pediatric Nutrition (Ronald E. Kleinman, Frank R. Greer)",
"author": null,
"pages": [
906
]
},
{
"title": "MedStudy Pediatrics Core 11th Edition 2024-2025",
"author": null,
"pages": [
378,
613
]
},
{
"title": "Gomella's Neonatology: Management, Procedures, On-Call Problems, Diseases, and Drugs, Eighth Edition",
"author": "Tricia Lacy Gomella, Fabien G. Eyal and Fayez Bany-Mohammed",
"pages": [
894
]
},
{
"title": "CURRENT Diagnosis and Treatment Pediatrics, Twenty-Fourth Edition",
"author": "Hay, William W., Levin, Myron J., Deterding, Robin R., Abzug, Mark J.",
"pages": [
1148
]
}
],
"passages": [
{
"source": "Cover, p. 6337",
"text": "**Beckwith-Wiedemann Syndrome and Hemihyperplasia** The clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) is based on a set of major and minor diagnostic features that include macrosomia, hemihyperplasia (HH), organomegaly, typical ear creases, hypoglycemia at birth, and embryonal tumors (eg, WT, neuroblastoma, and hepatoblastoma). Children with isolated HH (often involving only a single body segment) also have an increased risk of embryonal tumors. Children with both BWS and HH have the highest risk of embryonal tumors (estimated to be 30\u201340% risk). All children with BWS and/or HH merit genetic evaluation and surveillance for WT similar to that described above for children with hereditary _WT1_ abnormalities."
},
{
"source": "Cover, p. 8344",
"text": "**Beckwith-Wiedemann Syndrome** Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder associated with epigenetic disturbances of the imprinted genes on chromosome 11p encoding IGF-2, H19, CDKN1 (the cyclin-dependent kinase inhibitor, p57KIP2), and KCNQ1 (a voltage-dependent potassium channel). Clinical features of Beckwith-Wiedemann include hemihypertrophy, abdominal wall defects, macroglossia, visceromegaly, and a predisposition to"
},
{
"source": "Netters Pediatrics (Florin \u0422., Ludwig St.), p. 784",
"text": "## _Beckwith-Wiedemann Syndrome_ Beckwith-Wiedemann Syndrome (BWS) is a growth disorder characterized by macrosomia, macroglossia, visceromegaly, omphalocele, neonatal hypoglycemia, ear creases or pits, and a risk for embryonic tumors that includes hepatoblastoma and Wilms\u2019 tumors (Figure 120-5). Partial overgrowth, or hemihyperplasia, may occur in tissues, organs, or body segments (see Figure 120-2). Nearly 60% of people with BWS have methylation abnormalities or mutations in the imprinted 11p15 region. Mutations in the _CDKN1C_ gene, a growth-regulating gene in this region, are seen in 40% of familial cases and 5% to 10% of nonfamilial cases of BWS. Methylation abnormalities in _KCNQ1OT1_ are present in 50% to 60% of the cases and in _H19_ in 2% to 7% of the cases. Because of the risk of tumors, abdominal ultrasonography is recommended every 3 months until age 8 years, and serum \u03b1-fetoprotein concentration is monitored during the first 3 years. ## **NEUROLOGIC FINDINGS**"
},
{
"source": "Cover, p. 6523",
"text": "Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by high birth weight, macroglossia, omphalocele, and visceromegaly. Children with BWS are at risk of developing a spectrum of embryonal tumors. A national registry of children with BWS reports that the risk of children with BWS developing hepatoblastoma is 2280-fold higher than the general population and that the risk for hepatoblastoma was significantly higher than any other type of cancer in these children. Screening children with BWS with periodic abdominal ultrasonography and serum alpha-fetoprotein (AFP) levels is recommended, as they may be associated with detection of tumors at an earlier stage."
},
{
"source": "Kliegman R. Nelson Textbook of Pediatrics 2-Volume Set 22ed 2024, p. 1031",
"text": "Syndromes associated with HI are increasingly being recognized (see Table 113.5). Beckwith- Wiedemann syndrome (BWS), an imprinting disorder, is characterized by macroglossia, lateralized overgrowth, omphalocele, and a predisposition to embryonal tumors (Fig. 113.7). Hyperinsulinism occurs in approximately 50% of infants with BWS, although most cases are mild and resolve within the first several weeks of life. These cases are typically responsive to diazoxide. Children with BWS caused by paternal uniparental isodisomy of 11p can have severe and persistent HI, which does not respond to diazoxide and may Downloaded for mohamed ahmed (dr.mms2020@gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright \u00a92024. Elsevier Inc. All rights reserved. 986 Part IX u Metabolic Disorders "
},
{
"source": "Kliegman R. Nelson Textbook of Pediatrics 2-Volume Set 22ed 2024, p. 1035",
"text": "Fig. 113.8 Management algorithm for hyperinsulinism. HI, Hyperinsulinism; BWS, Beckwith- Wiedemann syndrome. *Some individuals may require diazoxide treatment into adulthood and possibly lifelong. Downloaded for mohamed ahmed (dr.mms2020@gmail.com) at University of Southern California from ClinicalKey.com by Elsevier on April 20, 2024. For personal use only. No other uses without permission. Copyright \u00a92024. Elsevier Inc. All rights reserved. 990 Part IX u Metabolic Disorders ~~Table 113.9 Causes of Ketotic Hypoglycemia in Children~~ "
},
{
"source": "Zitelli and Davis' Atlas of Pediatric Physical Diagnosis: Expert Consult - Online, p. 41",
"text": " **----- Start of picture text -----**
C
**----- End of picture text -----**
**Figure 1-29 A,** Beckwith-Wiedemann syndrome. Note the macrosomia, macroglossia, and asymmetry with hemihypertrophy and omphalocele and/or umbilical hernia. Craniofacial features also include unusual ear creases. **B,** At 3 months of age; note the macroglossia, right facial prominence, and ear creases. **C,** At 27 months of age; note the resolving umbilical hernia. The elevated \u03b1-fetoprotein (AFP) levels from infancy have normalized. The patient has nephromegaly, and is under surveillance for the detection of embryonal tumors by serum AFP and abdominal and renal sonograms every 4 months. Chromosomes were normal male complement, 46,XY. The abnormal methylation pattern of the LIT1 gene at the 11p15 region confirmed the clinical diagnosis of Beckwith-Wiedemann syndrome. **20** Zitelli and Davis\u2019 Atlas of Pediatric Physical Diagnosis"
},
{
"source": "Pediatric Nutrition (Ronald E. Kleinman, Frank R. Greer), p. 906",
"text": "The history and physical examination are often revealing. Gestational age and birth weight; maternal health, including history of diabetes or glucose intolerance; and medications may guide diagnosis, prognosis, and therapy. Most hypoglycemic infants who are large for gestational age are hyperinsulinemic, although rare disorders of macrosomia and overgrowth with severe hypoglycemia and low insulin levels have been traced to activating mutations in the molecular pathway that controls insulin effects.[20,21] Most hyperinsulinemic infants are born to women with diabetes, and the hypoglycemia and hyperinsulinemia are of relatively short duration (24 hours to a few days).[22] Other rare transient causes of hyperinsulinism include BeckwithWiedemann syndrome, characterized by macrosomia, large tongue, omphalocele/umbilical hernia, visceromegaly, and horizontal grooves on ear lobes.[23] Persistent hyperinsulinism and hypoglycemia require careful genetic and physiologic evaluation and management planning. Genetic"
},
{
"source": "MedStudy Pediatrics Core 11th Edition 2024-2025, p. 613",
"text": "predisposed to Wilms tumor, adrenocortical carcinoma, and hepatoblastoma. At diagnosis, all patients with BWS should be screened for nephrourological malformations by clinical evaluation and ultrasound, Follow these children for tumor growth \u00a9 2023 MedStudy HYPOTHALAMUS AND PITUITARY DISORDERS Figure 15-12: A child < 1 year of age with Beckwith- Wiedemann syndrome with an abdominal ultrasound and an a-fetoprotein (AFP) every 3 months until 4 years of age and then with renal ultrasound every 3 months from 4-7 years of age. An international consensus statement, published in 2018, recommended changes in screening protocol based on specific genetic mutations. Sotos syndrome (a.k.a. cerebral gigantism) is a syndrome with rapid growth early in childhood but no evidence of an endocrine disorder. It is very rare but is sometimes tested on exams. Cases can occur in families with auto- somal dominant or recessive patterns, but most cases are sporadic. Most cases of Sotos syndrome are due to a mutation in"
},
{
"source": "Gomella's Neonatology: Management, Procedures, On-Call Problems, Diseases, and Drugs, Eighth Edition, p. 894",
"text": "- **c. Physical findings.** Perinatal findings include polyhydramnios, premature birth, macroglossia, linear ear creases, and macrosomia. Hemihyperplasia may be present at birth but can develop over time. Neonatal hypoglycemia is often present and clinically important. Anterior abdominal wall defects, including omphalocele and umbilical hernia, are common. - **d. Associated anomalies.** Include renal anomalies and an increased risk of mortality associated with Wilms tumor and hepatoblastoma. The estimated risk for tumor development in children with Beckwith-Wiedemann syndrome is 7.5%. This increased risk for neoplasia seems to be concentrated in the first 8 years of life. Tumor development is uncommon in affected individuals >8 years of age. "
},
{
"source": "MedStudy Pediatrics Core 11th Edition 2024-2025, p. 613",
"text": "Differential Diagnosis of Tall Stature Overgrowth syndromes constitute a mixed bag of dis- orders due to excess of IGF-2, which is encoded by the Igf2 gene. Beckwith-Wiedemann syndrome (BWS; Figure 15-12) is the most common overgrowth syndrome, occurring in ~1/14,000 births. > 50% of the cases of BWS are caused by molecular defects in imprinting (i.e., the expression of genetic material depends on the parent from which it is derived) genes in chromosome region 11p15.5, and 20% of cases are due to paternal uniparental disomy. (See more on this in the Genetics section under Appendix \u2014 Congenital Anomaly Syndrome (Table 22-8). These patients present at birth with macroglossia, hepatospleno- megaly, nephromegaly, pancreatic f-cell hyperplasia (causing excessive insulin production with resultant hypo- glycemia), and abdominal wall defects (e.g., omphalocele, umbilical hernia, diastasis recti). Children with BWS are predisposed to Wilms tumor, adrenocortical carcinoma, and hepatoblastoma."
},
{
"source": "CURRENT Diagnosis and Treatment Pediatrics, Twenty-Fourth Edition, p. 1148",
"text": "Chromosomal abnormalities such as duplication of the paternal 11p15 region, or paternal UPD, or mutations of the CDKN1C gene are associated with BWS. Most patients have methylation errors of DMR1 (differentially methylated region1, _H19, 5%_ ), and DMR2 (LIT1, 50%). H19 is a long noncoding RNA with a role in the negative regulation of cell proliferation. Isolated hemihyperplasia can be a mild form of Beckwith-Wiedemann syndrome. The main difference between the two is the relatively mosaic methylation pattern of the specific area of tissue. Children affected with BWS should undergo tumor surveillance protocols, including serum AFP levels every 3 months until they reach age 4 and an abdominal ultrasound every 3 months until they reach age 8, as diagnosing malignancy at early stages leads to a significant improvement in outcome. ## **2. Prader-Willi Syndrome**"
},
{
"source": "Pediatric Pulmonology, p. 271",
"text": "## **Congenital Lesions of the Tongue** ## **Macroglossia** Beckwith-Wiedemann syndrome is the most common cause of macroglossia in children.[18] Macroglossia can also be seen with trisomy 21, congenital hypothyroidism, vascular malformations, muscular enlargement, and tumors. Lymphangiomas or hemangiomas of the tongue may cause clinically significant airway obstruction present at birth. Lymphangiomas are most common and are apparent at birth in 60% of cases.[19] Symptoms include dysphagia; drooling; disarticulation; and a dried, fissured tongue. In cases of severe obstruction, intubation or tracheostomy may be required, followed by surgical reduction of part of the tongue. In children, tumors of the tongue are rare, but rhabdomyosarcoma can occur, and 20% of these tumors that occur in the head and neck occur in the tongue ( **Box 13-2** ).[19] ## **Congenital Lesions of the Base of the Tongue**"
},
{
"source": "MedStudy Pediatrics Core 11th Edition 2024-2025, p. 378",
"text": "There is an increased risk of hepatoblastomata in patients with Beckwith-Wiedemann syndrome and familial ade- nomatous polyposis. The serum a-fetoprotein level is markedly elevated in these children and is useful for diag- nosis and for monitoring after therapy (for recurrence). With complete resection and postoperative chemother- apy, survival rates approach 50%. Liver transplant has been used successfully when complete resection cannot be done. For more information on liver tumors, see Liver Tumors in the Oncology section. THE MEDSTUDY HUB: YOUR GUIDELINES RESOURCE For current pediatric practice guidelines, visit the MedStudy Hub: medstudy.com/hub The Hub contains an online consolidated list of all current guidelines focused on pediatrics. Guidelines on the Hub are easy to find, continually updated, and linked to the published source. \u00a9 2023 MedStudy\u2014Please Report Copyright Infringements to copyright@medstudy.com ##"
}
]
}