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Extensive Pelvic Plexiform Neurofibroma Presenting As Clitoromegaly in a 3-Year-Old Female: Presentation and Management with MEK Inhibitor.
Waldner, Richelle C; Rojas-Vasquez, Marta; Metcalfe, Peter D; Haqq, Andrea M.
Afiliação
  • Waldner RC; Division of Endocrinology and Metabolism, Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
  • Rojas-Vasquez M; Division of Immunology, Department of Pediatrics, Hematology, Oncology and Palliative Care, University of Alberta, Edmonton, Alberta, Canada.
  • Metcalfe PD; Division of Urology, Department of Surgery, University of Alberta, Edmonton, Alberta, Canada.
  • Haqq AM; Division of Endocrinology and Metabolism, Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
J Pediatr Genet ; 11(2): 139-143, 2022 Jun.
Article em En | MEDLINE | ID: mdl-35769967
Plexiform neurofibroma (PN) involvement of the external genitalia in patients with neurofibromatosis type I (NF1) is a rare cause of nonhormonal clitoromegaly. We present a 3-year-old female with known NF1 who presented with clitoromegaly. She was identified with an extensive pelvic mass involving the bladder wall, perineum, labia, clitoris, rectum, and sacral foramina. A partial cystectomy was performed, and histopathology was consistent with PN. She has been initiated on a mitogen activated protein kinase enzyme kinase inhibitor, trametinib, which has been effective in achieving partial radiographic response of the bladder mass over 5 months. Additionally, she has experienced clinical response to trematinib with resolution of urinary urgency and frequency since initiating treatment.
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article