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1/183. Anesthetic considerations of two sisters with beckwith-wiedemann syndrome.

    Anesthetic considerations of 21-mo-old and 4-yr-old sisters with beckwith-wiedemann syndrome during surgical repair of cleft palate and reduction of macroglossia are presented and discussed. This syndrome is characterized by exomphalos, macroglossia, gigantism, hypoglycemia in infancy, and many other clinical features. This syndrome is also known as exomphalos, macroglossia, and gigantism (EMG) syndrome. Principal problems associated with anesthetic management in this syndrome are hypoglycemia and macroglossia. Careful intraoperative plasma glucose monitoring is particularly important to prevent the neurologic sequelae of unrecognized hypoglycemia. It is expected that airway management would be complicated by the macroglossia, which might cause difficult bag/mask ventilation and endotracheal intubation following the induction of anesthesia and muscle paralysis, so preparations for airway difficulty (e.g., awake vocal cord inspection) should be considered before induction. A nasopharyngeal airway is useful in relieving postoperative airway obstruction. ( info)

2/183. Conductive hearing loss in beckwith-wiedemann syndrome.

    beckwith-wiedemann syndrome is a rare genetic overgrowth syndrome presenting with organomegaly, abdominal wall defects, macroglossia, and postnatal hypoglycemia. Head and neck manifestations of this abnormality include flame nevus of the forehead and characteristic sulci of the ear lobe. We present a 7-year-old child with beckwith-wiedemann syndrome and a rare finding of conductive hearing loss on both sides due to congenital malleus and stapedial fixation. Small fenestra stapedotomy and mobilization of malleus fixation in the epitympanum improved the child's hearing. The bony fixation of the malleus and stapes is explained as atavism of the processus anterior mallei and peripheral lamina stapedialis in embryological development. ( info)

3/183. A Meckel's diverticulum containing pancreatic tissue and nesidioblastosis in a patient with beckwith-wiedemann syndrome.

    A 30-month-old twin with beckwith-wiedemann syndrome underwent exstirpation of a nephroblastoma from the right kidney. A Meckel's diverticulum (MD), an incidental finding intraoperatively, was resected because it was indurated and enlarged. Histologically, the MD contained ectopic gastric and pancreatic mucosa. nesidioblastosis was identified within the pancreatic tissue. This is probably the first description of ectopic nesidioblastosis within a MD. ( info)

4/183. Ruptured arteriovenous malformation in a boy with beckwith-wiedemann syndrome.

    We report here the first case of ruptured arteriovenous malformation (AVM) in a patient with beckwith-wiedemann syndrome (BWS). The subject was a 9-year-old boy exhibiting various abnormal features characteristic of BWS, who had undergone frequent surgical management for conditions such as umbilical hernia, polydactyly, inguinal hernia, cleft palate and lip, and undescended testis. The patient was suffering from ruptured AVM in the right frontal lobe, which was successfully managed with surgical interventions. The possible genetic mechanisms that formed the cerebral vascular malformations in this patient are discussed. ( info)

5/183. Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-beckwith syndrome.

    "Genetic mosaicism" describes the presence of two or more populations of cells within a single individual that differ in their genomic constitution. Although the occurrence of asymmetric overgrowth in Wiedemann-Beckwith syndrome (WBS) suggests that mosaicism has some role in the WBS phenotype, no direct evidence for this has been published. WBS is a congenital overgrowth syndrome with variable phenotype linked to the imprinted gene cluster on chromosome region 11p15. We have performed a molecular survey of multiple organs and tissues in a case of WBS with a high degree of mosaic paternal 11p15 uniparental disomy (UPD). The organs most severely affected were those with the highest percentage of cells with UPD. In particular there was a striking difference in the degree of mosaicism for 11p15 UPD between the extremely enlarged left adrenal and non-enlarged right adrenal gland. This result indicates that the proportion of paternal 11p15 UPD cells correlates with the tissue phenotype of WBS. Our results suggest that high proportions of abnormal cells result from a combination of stochastic events and cell selection. mosaicism may explain the variable phenotypes including hemihyperplasia and predisposition to childhood cancers in WBS patients. ( info)

6/183. Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features.

    We describe a subtle translocation t(8;11)(p23.2;p15.5) ascertained after two induced abortions in the same sibship because of the discovery of fetal hydrops on ultrasound examination. Initial cytogenetic studies performed on cultured amniotic fluid cells were considered as normal in both fetuses. High resolution banding analysis and FISH studies performed on the parents' chromosomes revealed a paternal translocation t(8;11)(p23.2;p15.5). Retrospective FISH analysis of both fetuses showed that they carried the same chromosomal imbalance including a distal monosomy 8pter and a distal trisomy 11pter. The phenotypes of the fetuses were re-examined and found to be compatible with Beckwith-Wiedemann syndromes (BWS). FISH analysis using an IGF2 probe demonstrated the presence of three copies of the IGF2 gene. This study highlights the value of searching for subtle chromosome rearrangements in families with recurrent unexplained multiple malformation syndromes discovered prenatally. Also, it contributes to a better delineation of the prenatal phenotype of BWS. Finally, it sheds new light on the aetiology of non-immune hydrops fetalis. ( info)

7/183. tongue reduction in Beckwith-Weidemann syndrome.

    OBJECTIVE: To review our experience with patients with macroglossia as a component of Beckwith-Weidemann Syndrome (BWS). DESIGN: Chart review of six patients treated with BWS. SETTING: Tertiary care teaching hospital. patients: Six patients diagnosed with BWS and macroglossia. INTERVENTIONS: Four patients underwent at least one surgical procedure to address their macroglossia. The surgical options and potential complications are discussed. RESULTS: Three patients who have undergone tongue reduction have a functioning tongue with normal mobility. Two patients have required tracheotomy as apart of their management and still have significant tongue enlargement. CONCLUSIONS: macroglossia as a part of BWS may present a difficult management problem. Various methods of tongue reductions have been reported with mixed results. ( info)

8/183. Successful airway control with the laryngeal mask in an infant with beckwith-wiedemann syndrome and hepatoblastoma for central line catheterization.

    We present a case of an infant with severe macroglossia, hypoglycaemia and inguinal hernia associated with hepatoblastoma (beckwith-wiedemann syndrome) in which a laryngeal mask airway (LMA) was useful to secure the airway during central line insertion. carbon dioxide monitoring through LMA proved effective to assess airway patency during positioning for central vein puncture. In this syndrome, where a potentially difficult airway may be encountered, LMA allowed adequate ventilation, avoiding the risk and inconvenience of tracheal intubation. ( info)

9/183. beckwith-wiedemann syndrome and virilizing cortical adrenal tumor in a child.

    The authors report a case of a virilizing adrenal tumor that developed in a 2-year-old child with beckwith-wiedemann syndrome (BWS). He had a fetal diagnosis of omphalocele and a history of neonatal adrenal cysts. The importance of prenatal diagnosis of BWS and postnatal follow-up of tumors is discussed. The differential diagnosis of adrenal pathologies occurring in BWS also is reviewed. ( info)

10/183. Long-term changes in dentoskeletal pattern in a case with beckwith-wiedemann syndrome following tongue reduction and orthodontic treatment.

    Long-term changes in the dentoskeletal pattern in a 6-year-old Japanese girl with beckwith-wiedemann syndrome were demonstrated. The patient showed macroglossia, which is the most common symptom of the syndrome, protruded lower lip, mandibular protrusion and anterior open bite. The jaw base relationship improved to skeletal Class I and the molar relationship to Angle Class I at the early preadolescent period following tongue reduction and phase I orthodontic treatment using a chin cap and tongue crib. Optimum intercuspation of teeth was achieved after edgewise treatment without orthognathic surgery, and a skeletal Class I apical base relationship and good facial profile were maintained after the retention period of 2 years. This case report suggests that early orthodontic treatment with tongue reduction can be effective in a case with beckwith-wiedemann syndrome to improve an abnormal dentoskeletal pattern. ( info)
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