Spinal ependymoma in a patient with Kabuki syndrome: a case report

BMC Medical Genetics
Davide RomaAngela Mastronuzzi

Abstract

Kabuki syndrome is a rare disorder characterized by the association of mental retardation and postnatal growth deficiency with distinctive facial appearance, skeletal anomalies, cardiac and renal malformation. Two causative genes have been identified in patients with Kabuki syndrome. Mutation of KMT2D (MLL2) was identified in 55-80% of patients, while 9-14% of KMT2D negative patients have mutation in KDM6A gene. So far, few tumors have been reported in patients with Kabuki syndrome. We describe the first case of a patient with spinal ependymoma and Kabuki syndrome. A 23 years old girl followed at our Center for KMT2D mutated Kabuki syndrome since she was 4 years old presented with acute lumbar pain and intermittent tactile hyposthenia of the feet. Spine magnetic resonance revealed a lumbar endocanalar mass. She underwent surgical resection of the lesion and histologic examination showed a tanycytic ependymoma (WHO grade II). Kabuki syndrome is not considered a cancer predisposition syndrome. Nonetheless, a number of tumors have been reported in patients with Kabuki syndrome. Spinal ependymoma is a rare disease in the pediatric and young adult population. Whereas NF2 mutations are frequently associated to ependymoma such an asso...Continue Reading

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Citations

Feb 24, 2016·American Journal of Medical Genetics. Part a·Paraskevi KaragianniIoannis Spyridakis
Nov 24, 2016·Diagnostic Cytopathology·Priyanka Maity ChaudhuriUttara Chatterjee
Sep 9, 2017·American Journal of Medical Genetics. Part a·Maria Cristina DigilioBruno Dallapiccola
Dec 21, 2018·American Journal of Medical Genetics. Part a·Emmanuel de BillyFranco Locatelli
Dec 29, 2019·American Journal of Medical Genetics. Part a·Yirou WangOlaf Bodamer
Aug 18, 2020·American Journal of Medical Genetics. Part a·Hiroaki MurakamiKenji Kurosawa
Oct 7, 2019·World Journal of Pediatrics : WJP·Yi-Rou WangXiu-Min Wang
Apr 13, 2020·BMC Musculoskeletal Disorders·Ziquan LiNan Wu
Mar 1, 2018·Journal of Pediatric Hematology/oncology·Hideto TeranishiShouichi Ohga
Nov 17, 2020·Frontiers in Oncology·Mario CapassoAchille Iolascon
Apr 4, 2021·Genes·Snir BonielKrzysztof Szczałuba

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Methods Mentioned

BETA
surgical resection

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