title: Vascular malformation and choroid plexus adrenal heterotopia: new findings in Beckwith-Wiedemann syndrome?
abstract: Large congenital arteriovenous malformations (AVM) may result in heart failure and death. We are reporting such combination with the AVM localized to the right thoracobrachial region. Remarkable postmortem findings included right renal and adrenal hemihyperplasia; the right adrenal fetal cortex presenting cytomegaly, endocrine pancreas hyperplasia, and heterotopic adrenal cortex with cytomegaly in the left lateral ventricle choroids plexus. The combination appears to be unique. The only previously reported example of adrenal cortex in the choroid plexus presented several features strongly suggestive of Beckwith-Wiedemann syndrome. Therefore, we postulate that additional uncommon findings in Beckwith-Wiedemann syndrome may include arteriovenous malformations and heterotopic adrenal tissue in choroids plexus.
authors.affiliation: Department of Pathology, Children's Hospital Superiora Sora María Ludovica, La Plata, Argentina. patologi@netverk.com.ar
authors.forename: Ricardo
authors.initials: R
authors.lastname: Drut
authors.forename: Graciela
authors.initials: G
authors.lastname: Quijano
authors.forename: María Eugenia
authors.initials: ME
authors.lastname: Altamirano
authors.forename: Marta C
authors.initials: MC
authors.lastname: Jones
authors.forename: Orlando B
authors.initials: OB
authors.lastname: Maffessoli
mesh_terms: D000302:Adrenal Cortex; D000328:Adult; D001165:Arteriovenous Malformations / Q000473:pathology*; D001506:Beckwith-Wiedemann Syndrome / Q000473:pathology*; D001927:Brain Diseases / Q000151:congenital / Q000473:pathology*; D002828:Choristoma / Q000473:pathology*; D002831:Choroid Plexus / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D020547:Lateral Ventricles / Q000002:abnormalities*; D011247:Pregnancy; D013909:Thorax / Q000098:blood supply*