Optic glioma associated with Beckwith-Wiedemann syndrome

Weinstein, Joel M.; Bačkonja, Miroslav; Houston, Lanning; Gilbert, Enid; Finlay, Jonathan L.; Duff, Thomas A.; Chun, Raymond W. M.

doi:10.1016/0887-8994(86)90026-3

Cited by 16 publications

(5 citation statements)

References 17 publications

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“…A retrospective study reported malignancy in 20 of 200 cases of Wiedemann-Beckwith syndrome, and in 13 other patients with 'atypical' forms of the syndrome [25]. Besides Wilms' tumour, non-Hodgkins lymphoma, hepatoblastoma, rhabdomyosarcoma, adrenal carcinoma, optic glioma, neuroblastoma and pancreatoblastoma have been reported [5,12,15,25,27,28]. By contrast Wilms' tumour is the only malignancy reported so far in patients with Perlman syndrome.…”

Section: Discussionmentioning

confidence: 72%

Perlman and Wiedemann-Beckwith syndromes: Two distinct conditions associated with Wilms' tumour

Grundy

Pritchard

Baraitser³

et al. 1992

Eur J Pediatr

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Though children with Perlman and Wiedemann-Beckwith syndromes have a number of features in common, the two conditions are probably separate entities. The distinction may not always be easy, however, partly because of the extreme rarity of Perlman syndrome, only nine cases of which have been reported so far. We report two siblings, initially diagnosed as having Wiedemann-Beckwith syndrome, in whom the correct diagnosis of Perlman syndrome was made only after an autopsy on the second child. By comparing and contrasting the features of Perlman and Wiedemann-Beckwith syndromes in this report we hope to make it easier to distinguish the two conditions.

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Section: Discussionmentioning

confidence: 72%

Perlman and Wiedemann-Beckwith syndromes: Two distinct conditions associated with Wilms' tumour

Grundy

Pritchard

Baraitser³

et al. 1992

Eur J Pediatr

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“…Notably, we also observed rare cancers, such as astrocytoma and ganglioneuroblastoma. We found one previous case of ganglioneuroblastoma 9 and another case of brain glioma 23 in the literature.…”

Section: Discussionmentioning

confidence: 94%

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

et al. 2020

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Background Beckwith-Wiedemann syndrome (BWS) is a cancer predisposition syndrome caused by defects on chromosome 11p15.5. The quantitative cancer risks in BWS patients depend on the underlying (epi)genotype but have not yet been assessed in a population-based manner. Methods We identified a group of 321 individuals with a molecularly confirmed diagnosis of BWS and analysed the cancer incidence up to age 15 years and cancer spectrum by matching their data with the German Childhood Cancer Registry. Results We observed 13 cases of cancer in the entire BWS cohort vs 0.4 expected. This corresponds to a 33-fold increased risk (standardised incidence ratio (SIR) = 32.6; 95% confidence interval = 17.3-55.7). The specific cancers included hepatoblastoma (n = 6); nephroblastoma (n = 4); astrocytoma (n = 1); neuroblastoma (n = 1) and adrenocortical carcinoma (n = 1). The cancer SIR was highest in patients with a paternal uniparental disomy of 11p15.5 (UPDpat). A high cancer risk remained when cases of cancer diagnosed prior to the BWS diagnosis were excluded. Conclusions This study confirms an increased cancer risk in children with BWS. Our findings suggest that the highest cancer risk is associated with UPDpat. We were unable to confirm an excessive cancer risk in patients with IC1 gain of methylation (IC1-GOM) and this finding requires further investigation.

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“…BWS has also been previously reported to occur with midline congenital intracranial anomalies such as agenesis of corpus callosum, brainstem abnormalities, and nasal encephalocele and has also been associated with glioma involving the intracranial optic nerves, chiasm, and optic tracts [8,29]. Presence of these abnormalities coexisting with BWS strongly points to a possible link of BWS with midline anomalies [4].…”

Section: Clinical Manifestations and Diagnosismentioning

confidence: 87%

“…Congenital hypertrophy itself is known to either occur in isolation or in conjunction with these syndromes such as Proteus, Sotos, Klippel-TrenaunayWeber, Weaver, Marshal-Smith, Costello, and SimpsonGolabi-Behmel syndromes [6,8,9,11,12,14,18,20,21,24,26,27,29,31] (Table 1). Congenital hypertrophy is classified as simple when only a single extremity is involved, complex when majority of one half of the body is affected, with involvement of either the same side or both sides, and hemifacial when it involves only one side of the face [26].…”

Section: Clinical Manifestations and Diagnosismentioning

confidence: 99%

Beckwith–Wiedemann syndrome and Chiari I malformation—a case-based review of central nervous system involvement in hemihypertrophy syndromes

Udayakumaran

Onyia

2015

Childs Nerv Syst

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Optic glioma associated with Beckwith-Wiedemann syndrome

Cited by 16 publications

References 17 publications

Perlman and Wiedemann-Beckwith syndromes: Two distinct conditions associated with Wilms' tumour

Perlman and Wiedemann-Beckwith syndromes: Two distinct conditions associated with Wilms' tumour

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

Beckwith–Wiedemann syndrome and Chiari I malformation—a case-based review of central nervous system involvement in hemihypertrophy syndromes

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