title: Gorham-Stout Disease of the Skull Base With Hearing Loss: Dramatic Recovery and Antiangiogenic Therapy.
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.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
authors.forename: Akifumi
authors.initials: A
authors.lastname: Nozawa
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
authors.forename: Michio
authors.initials: M
authors.lastname: Ozeki
authors.affiliation: Department of Otolaryngology, Graduate School of Medicine, Gifu University, Gifu, Japan.
authors.forename: Bunya
authors.initials: B
authors.lastname: Kuze
authors.affiliation: Department of Radiology, Graduate School of Medicine, Gifu University, Gifu, Japan.
authors.forename: Takahiko
authors.initials: T
authors.lastname: Asano
authors.affiliation: Department of Pathology, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Kentaro
authors.initials: K
authors.lastname: Matsuoka
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukao
mesh_terms: D002559:Cerebrospinal Fluid Rhinorrhea; D002675:Child, Preschool; D006309:Hearing; D034381:Hearing Loss / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D016898:Interferon-alpha / Q000008:administration & dosage*; D008297:Male; D010012:Osteogenesis; D010015:Osteolysis, Essential / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology; D011092:Polyethylene Glycols / Q000008:administration & dosage*; D011994:Recombinant Proteins / Q000008:administration & dosage; D020127:Recovery of Function; D019291:Skull Base / Q000473:pathology / Q000503:physiopathology*
chemical_list: D016898:Interferon-alpha; D011994:Recombinant Proteins; D011092:Polyethylene Glycols; C100416:peginterferon alfa-2a
keywords: cerebrospinal fluid leakage; interferon; lymphatic malformation; mammalian target of rapamycin; sirolimus