Gorham-Stout Disease of the Skull Base With Hearing Loss: Dramatic Recovery and Antiangiogenic Therapy

Pediatr Blood Cancer. 2016 May;63(5):931-4. doi: 10.1002/pbc.25886. Epub 2015 Dec 29.

Abstract

Gorham-Stout disease (GSD) is a rare disorder of unknown etiology. We present a 6-year-old male with GSD involving the skull base who presented with recurrent cerebrospinal fluid (CSF) rhinorrhea, severe hearing loss, and facial palsy secondary to cerebellar herniation into the internal auditory canal. After 2 months of treatment with pegylated interferon (IFN) α-2b (50 μg/week), his hearing recovered dramatically. Two years later, new bone formation appeared radiologically and IFN was switched to sirolimus. One year after the switch, CSF rhinorrhea disappeared. Antiangiogenic therapy might inhibit proliferation of vascular endothelial cells in osteolytic lesions and lead to new bone formation.

Keywords: cerebrospinal fluid leakage; interferon; lymphatic malformation; mammalian target of rapamycin; sirolimus.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cerebrospinal Fluid Rhinorrhea*
  • Child, Preschool
  • Hearing Loss* / drug therapy
  • Hearing Loss* / pathology
  • Hearing Loss* / physiopathology
  • Hearing*
  • Humans
  • Interferon-alpha / administration & dosage*
  • Male
  • Osteogenesis*
  • Osteolysis, Essential* / drug therapy
  • Osteolysis, Essential* / pathology
  • Osteolysis, Essential* / physiopathology
  • Polyethylene Glycols / administration & dosage*
  • Recombinant Proteins / administration & dosage
  • Recovery of Function*
  • Skull Base / pathology
  • Skull Base / physiopathology*

Substances

  • Interferon-alpha
  • Recombinant Proteins
  • Polyethylene Glycols
  • peginterferon alfa-2a