Gorham-Stout disease of the craniovertebral junction causing basilar impression and Chiari malformation type I: illustrative case

Hashim Syed; Stephen Glennon; Nahom Teferi; David Chenoweth; Kathryn Eschbacher; Polly J Ferguson; Yutaka Sato; Patrick Hitchon; Brian J Dlouhy

doi:10.3171/CASE24298

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Gorham-Stout disease of the craniovertebral junction causing basilar impression and Chiari malformation type I: illustrative case

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Gorham-Stout disease of the craniovertebral junction causing basilar impression and Chiari malformation type I: illustrative case

Hashim Syed, Stephen Glennon, Nahom Teferi, David Chenoweth, Kathryn Eschbacher, Polly J Ferguson, Yutaka Sato, Patrick Hitchon and Brian J Dlouhy

Journal of neurosurgery. Case lessons, Vol.9(6), CASE24298

02/10/2025

DOI: 10.3171/CASE24298

PMCID: PMC11812442

PMID: 39928929

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Abstract

Gorham-Stout disease (GSD) is an extremely rare osteolytic disorder characterized by resorption of skeletal bone due to aggressive, nonneoplastic lymphatic proliferation. The authors report the 14th case of GSD of the craniovertebral junction (CVJ), which resulted in cranial settling, basilar impression, and an acquired Chiari malformation type I (CM-I) in a pediatric patient. A 4-year-old girl initially presented with recurrent symptoms of pharyngitis, bacteremia, and neck pain. She continued experiencing waxing and waning symptoms of fever and neck pain that gradually worsened. At 12 years old, imaging revealed progressively worsening osteolytic changes with bone marrow edema involving the CVJ and subaxial cervical spine with progressive cranial settling, basilar impression, and 14 mm of tonsillar herniation, consistent with an acquired CM-I. She underwent a frontal bone biopsy, which confirmed the diagnosis of GSD. Treatment with sirolimus and bisphosphonates stabilized the osteolysis. GSD represents a rare group of osteolytic bone disorders with a highly variable clinical course. A high index of suspicion is warranted, as diagnosis can be challenging. Early referral to a specialized center is key, as treatment is directed toward symptomatic management and a multidisciplinary team approach. GSD is another syndrome associated with CVJ bony changes and tonsillar herniation. https://thejns.org/doi/10.3171/CASE24298.

basilar impression

Chiari malformation

Gorham-Stout disease

Details

Title: Subtitle: Gorham-Stout disease of the craniovertebral junction causing basilar impression and Chiari malformation type I: illustrative case
Creators: Hashim Syed - University of Iowa
Stephen Glennon - University of Iowa Hospitals and Clinics
Nahom Teferi - University of Iowa
David Chenoweth - University of Iowa
Kathryn Eschbacher - University of Iowa
Polly J Ferguson - University of Iowa
Yutaka Sato - University of Iowa
Patrick Hitchon - University of Iowa
Brian J Dlouhy - University of Iowa
Resource Type: Journal article
Publication Details: Journal of neurosurgery. Case lessons, Vol.9(6), CASE24298
DOI: 10.3171/CASE24298
PMID: 39928929
PMCID: PMC11812442
NLM abbreviation: J Neurosurg Case Lessons
ISSN: 2694-1902
eISSN: 2694-1902
Publisher: AMER ASSOC NEUROLOGICAL SURGEONS
Language: English
Date published: 02/10/2025
Academic Unit: Radiology; Stead Family Department of Pediatrics; Pathology; Iowa Neuroscience Institute; Rheumatology, Allergy, and Immunology; Neurosurgery; Otolaryngology
Record Identifier: 9984787234702771

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