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The case presented here is a three-month-old male infant with the Beckwith-Wiedemann's syndrome. Clinically, the patient was characterized by macroglossia, visceromegaly, umbilical hernia, microcephalus and other multiple malformations such as facial flame nevus or ear lobe grooves. The patient died of bronchopneumonia at the age of three months, and an autopsy was performed. Morphological examination revealed adrenal cytomegaly, hyperplasia and hypertrophy of the pancreatic islets, adrenal rest tissue in the right testis or hypertrophy of muscle fibers of the tongue associated with fibrous degenerative change, in addition to bronchopneumonia of the lung, causing his death. On electron microscopical examination, the cytomegalic cell of the adrenal was characteristic of large pleomorphic nucleus and granular substances with high density in the cytoplasm. In this case, thorough histologic search revealed no evidence of tumorous growth in the organs, though the exomphalos-macroglossia-gigantism syndrome has been of interest in its relationship to the occasional occurrence of Wilms tumor, adrenal carcinoma or other tumors.
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PMID:Beckwith-Wiedemann's syndrome--a report of an autopsied case--. 43 92

An 8-year-old boy with an uncorrected ventricular septal defect, pulmonary stenosis, mental retardation, and gigantism died 24 hours after partial resection of a large right-sided Wilms' tumor. The presence of other abnormalities, including a small umbilical hernia and overgrowth of the external genitalia, raises the possibility that this case represents a variant of the Beckwith-Wiedemann syndrome. The typical facial features of Sotos' syndrome were not present. Gross examination of the surgical specimen revealed that tumor was present in the resected margin of left renal vein. Necropsy showed that death resulted from extensive cerebral infarction due to occlusion of the left internal carotid artery and its branches by tumor emboli. Paradoxical embolism had occurred during or soon after partial resection of the tumor mass due to passage of tumor fragments into the systemic circulation through the ventricular septal defect.
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PMID:Fatal paradoxical embolism to the left carotid artery during partial resection of Wilms' tumor. 132 57

A pair of monozygotic twins discordant for the Wiedemann-Beckwith syndrome (WBS) associated with congenital central hypothyroidism is described. During pregnancy, the mother was noted to have marked polyhydramnios and severe abdominal distension. At birth, a large diamniotic, monochorionic placenta was noted. According to a study of the minor blood groups and HLA typing, the possibility of monozygosity is 0.985. The mode of inheritance of the syndrome is debatable, and according to observations of discordance in monozygotic twins, single gene control seems unlikely. The thyroid function was noted to be subnormal when the proband was 3 days old. Oral thyroxine has been supplied since infancy. Repair of the umbilical hernia, the bilateral inguinal hernia, and a bilateral orchidopexy were done. A partial glossectomy was later performed to prevent progressive orofacial maldevelopment. The postnatal gigantism persisted as he grew.
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PMID:Wiedemann-Beckwith syndrome with congenital central hypothyroidism in one of monozygotic twins. 197 21

We report on 2 patients who were apparently normal at birth but later developed characteristics of Wiedemann-Beckwith syndrome (WBS). Both had hypoglycemia neonatally and gradually developed coarse facial changes, umbilical hernia, and macroglossia. Renal sonography done after the macroglossia developed showed large kidneys in both. The placentas were carefully examined in both cases but findings described as typical of WBS were only found in one. The clinical evolution of these infants suggests that some WBS manifestations may have their onset postnatally in some cases. We postulate that the cellular hyperplasia and hypertrophy characteristic of WBS may be caused by persistent rests of embryonal cells that secrete paracrine and/or endocrine growth factors.
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PMID:Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome. 238

In 1963 Beckwith and Wiedemann reported a syndrome, which was characterized by umbilical hernia, macroglossia and somatic gigantism. In the literature, early intervention by tongue reduction is recommended in order to prevent both mandibular prognathism and open bite. In this paper seven cases were presented showing that early functional treatment of the stomatognatic system leads to pleasing results, both functionally and aesthetically. Therefore it is suggested, that functional treatment should replace surgical management of macroglossia in the Beckwith-Wiedemann-syndrome.
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PMID:[Early orthodontic treatment measures in infants with the EMG syndrome]. 258 28

We present a male newborn (weight 4000 g) who died at age 12 days with a clinical history of persistent hypoglycemia and polycythemia. Clinical examination disclosed somatic hemihypertrophy (left side), a large umbilical hernia, macroglossia, and an intraabdominal tumor, consistent with the diagnosis of Beckwith-Wiedemann syndrome (EMG syndrome) and hemihypertrophy. Necropsy findings included visceromegaly (left kidney and adrenal), cytomegaly of the fetal cortex and nodular arrangement of both adrenals, diffuse nesidioblastosis and islet cell hyperplasia of the pancreas, and persistent glomerulogenesis. The tumor was a cystic pancreatoblastoma attached to the anterior surface of the pancreas. Three other examples of this association, congenital pancreatoblastoma and Beckwith-Wiedemann syndrome, all in males, are on record in the literature, indicating a strong relationship between both conditions.
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PMID:Congenital pancreatoblastoma in Beckwith-Wiedemann syndrome: an emerging association. 284 76

An infant with an incomplete expression of Wiedemann-Beckwith syndrome during the neonatal period was suspected to suffer from hypothyroidism. However, after exclusion of this tentative diagnosis the phenotypic characteristics lead to the correct diagnosis. In addition to the macroglossia, the typical facial signs of this syndrome such as capillary haemangioma of the glabella, soft tissue folds under the eyes and linear indentations of the ear lobes are demonstrable. Gigantism and umbilical hernia are absent. A tendency to hypoglycaemia and the increased risk of malignancy are the important aspects of this syndrome, which may be expressed in a variety of clinical forms. So far the aetiology of this syndrome is unknown although familial cases implicate the involvement of genetic factors.
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PMID:[Wiedemann-Beckwith syndrome. Study of an oligosymptomatic form]. 377 23

An association between trisomy 11p15 and Beckwith-Wiedemann syndrome is described in two brothers. The first presented at birth with gigantism and macroglossia, umbilical hernia and abdominal distention, hypoglycemia and atresia of the pulmonary artery, leading to the diagnosis of Beckwith-Wiedemann syndrome. Facial dysmorphism also included: a hypoplastic midface, hypertelorism, and a short nose with a flattened bridge. The karyotype showed a trisomy 11p15 with a monosomy 18p11, due to a t(11;18)(p154;p111)pat. His brother, born a year later, showed the same signs. The association between trisomy 11p15 and Beckwith-Wiedemann syndrome is in certain cases well established.
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PMID:Trisomy 11p15 and Beckwith-Wiedemann syndrome. Report of two new cases. 387 70

Two patients with trisomy 11p15 and features of Beckwith-Wiedemann syndrome are reported. The first is a female infant with gigantism, macroglossia, abdominal hypotonia with umbilical hernia, moderate mental retardation, malformative uropathy, and atrial septal defect. Trisomy 11p15 was due to de novo duplication. The second patient was a stillborn (32-33 weeks pregnancy) with an abnormal tongue, posterior diaphragmatic eventration, inner organ congestion mainly of the adrenals. Trisomy 11p15 was due to a t(4;11)(q33;p14)pat. The association of trisomy 11p15 and Beckwith-Wiedemann syndrome is discussed with regard to cytogenetic data and the gene content of 11p, notably the genes coding for insulin and predisposition to Wilms tumour.
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PMID:Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases. 674 43

We report on a child who died in the neonatal period. Major external anomalies included foetal overgrowth, macroglossia, and ambiguous genitalia (micropenis and perineoscrotal hypospadias with cryptorchidism). Necropsy showed a large right diaphragmatic hernia, visceromegaly, multicystic kidney dysplasia, Langerhans islet hyperplasia, nephroblastomatosis, multiple adrenal adenomas, and dysplastic testicles. The child illustrates the difficulties of the differential diagnosis of overgrowth syndromes in the neonatal period, and the phenotypic overlap of Beckwith-Wiedemann, Denys-Drash, Simpson-Golabi-Behmel, Perlman and possibly Meacham-Winn syndromes. Simpson-Golabi-Behmel syndrome was felt to be the most likely diagnosis. If this opinion is correct, genital ambiguity, hydramnios and nephroblastomatosis should be added to the clinical spectrum of Simpson-Golabi-Behmel syndrome. Differential diagnosis between the above-mentioned syndromes is of major importance for accurate genetic counseling, considering the differences in recurrence risk. The present case underlines the need for long-term survey of patients suspected of having Simpson-Golabi-Behmel syndrome, who could be at risk for embryonic tumours.
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PMID:Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall. 755 52


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