Charcot-Marie-Tooth 1A concurrent with anaplastic ependymoma in a toddler: when an acute event unmasks a chronic condition

Turk J Pediatr. 2019;61(3):428-430. doi: 10.24953/turkjped.2019.03.017.

Abstract

Gogou M, Pavlidou E, Pavlou E, Papageorgiou T, Tragiannidis A, Giannopoulos A, Hatzipantelis E. Charcot-Marie -Tooth 1A concurrent with anaplastic ependymoma in a toddler: when an acute event unmasks a chronic condition. Turk J Pediatr 2019; 61: 428-430. We report a 14-month-old toddler admitted to the Pediatric Oncology Department after surgical resection of supratentorial anaplastic ependymoma. The child was treated with International Society of Pediatric Oncology Ependymoma II 2015 chemotherapy protocol (vincristine, carboplatin, cisplatin, cyclophosphamide and methotrexate). At the end of the first cycle the child presented with symptoms such as unsteadiness and ataxic gait along with decreased motor and sensory action potentials of the limbs. As the father of the child was diagnosed with Charcot-Marie-Tooth 1A disease, a genetic analysis of the PMP22 gene was performed confirming the diagnosis of Charcot- Marie-Tooth 1A in the child, too. This case gently reminds the possibility of vincristine-induced neurotoxicity and underscores the significance of an appropriate neurological assessment before vincristine initiation.

Keywords: Charcot-Marie-Tooth; ependymoma; neurooncology; neurotoxicity; vincristine.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Acute Disease
  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / diagnosis*
  • Charcot-Marie-Tooth Disease / genetics
  • Chronic Disease
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Ependymoma / complications
  • Ependymoma / diagnosis*
  • Ependymoma / genetics
  • Female
  • Humans
  • Infant
  • Mutation*
  • Myelin Proteins / genetics*
  • Myelin Proteins / metabolism

Substances

  • Myelin Proteins
  • PMP22 protein, human