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

Davide Roma, Paolo Palma, Rossella Capolino, Lorenzo Figà-Talamanca, Francesca Diomedi-Camassei, Francesca Romana Lepri, Maria Cristina Digilio, Carlo Efisio Marras, Raffaella Messina, Andrea Carai, Franco Randi, Angela Mastronuzzi

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Background: 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. Case presentation: A 23years old girl followed at our Center for KMT2D mutated Kabuki syndrome since she was 4years 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). Conclusion: 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 association has never been described in Kabuki syndrome. To our knowledge this is the first case of ependymoma in a KMT2D mutated Kabuki syndrome patient. Despite KMT2D role in cancer has previously been described, no genetic data are available for previously reported Kabuki syndrome patients with tumors. Nonetheless, the association of two rare diseases raises the suspicion for a common determinant.

Original languageEnglish
Article number80
JournalBMC Medical Genetics
Issue number1
Publication statusPublished - Sep 5 2015


  • Cancer predisposition syndromes
  • Kabuki syndrome
  • KMT2D mutation
  • Spinal ependymoma

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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