Management of Gorham Stout disease with skull-base defects: Case series of six children and literature review.

Gorham-Stout disease (GSD) is a rare lymphatic disorder which results in bone destruction. Defects of the skull base are difficult to manage, we describe cases to better understand the disease and discuss treatment. Retrospective study including all patients treated for GSD skull-base defects. Medical records, clinical, imaging and treatment data were studied. A systematic review of the literature included case reports of the diseases for further analysis. 6 patients (5 males, 1 female) were included. Mean age at diagnosis was 3.5 years (range 0-10). Follow-up was of 5.2 years. Patients were divided into Naso-temporal (NT) and Vertebro-temporal (VT) groups following anatomical location. NT patients (4 patients) all had petrous defects extending anteriorly, including sphenoid, ethmoidal and mandibular defects. They all had cerebro-spinal fluid leak (CSF) and recurrent meningitis (range from 3 to 7). Two of those patients had sequelae including deafness, paralysis and epilepsy. VT patients (2 patients) all had temporal, occipital bone and cervical vertebrae defects. None had CSF leaks but both died from medullar compression (preceded by tetraparesis in one case). Overall, five out of six patients had type I Chiari malformation. Interferon seemed to be the most efficient medical treatment. Surgery included petrectomy, endonasal surgery for CSF leak management and neurosurgery for medullar management but could not guarantee long-term effects. Main issues in skull base defects are CSF leaks and medullar compressions. Surgical treatment is necessary in both cases but can only be satisfactory if general medical treatment can stabilise the disease.

Simon F ，Luscan R ，Khonsari RH ，Toubiana J ，Belhous K ，James S ，Blauwblomme T ，Zerah M ，Denoyelle F ，Donadieu J ，Couloigner V ... -  《-》

Multifocal Gorham-Stout disease associated with Chiari I malformation and recurrent aseptic meningitis: Case report and review of literature.

Gorham-Stout disease is a rare condition of uncertain aetiology characterised by lymphatic proliferation within osseous structures and subsequent massive osteolysis. This report describes the index case of a patient with multifocal Gorham-Stout disease involving the skull base with Chiari I malformation and recurrent aseptic meningitis without fistula. A five-year-old male presented following decompression of a Chiari I malformation with headaches, vomiting, and stiff neck and cerebrospinal fluid pleocytosis without growth of a pathogenic organism. Ongoing symptoms prompted a further three presentations over several months revealing persistent aseptic cerebrospinal fluid monocytic pleocytosis. Further investigation revealed multifocal osseous cystic disease and subsequent bone biopsy suggested Gorham-Stout disease. Suboccipital decompression was not repeated despite craniocervical junction re-stenosis. A literature review demonstrated the extreme rarity of Gorham-Stout disease associated with Chiari I malformation and meningitis. Potential mechanisms of these entities occurring in concert are discussed. Consideration of Gorham-Stout disease as a secondary cause for Chiari I malformation is important amid local bone changes or cerebrospinal fluid leakage prior to pursuing suboccipital decompression considering the poor outcomes reported.

Stephens S ，Squires L ，Campbell R ，Davies J ，Chaseling R ... -  《-》

Gorham-Stout disease affecting the spine with cerebrospinal fluid leakage and Chiari-like tonsillar herniation: a rare case report and review of literature.

Gorham-Stout disease (GSD) is a very rare disorder characterized by massive osteolysis of poorly understood aetiology. The association between GSD involving the skull base and cerebrospinal fluid (CSF) leakage has been reported in the literature. However, few cases of CSF leakage and Chiari-like tonsillar herniation in GSD involving the spine have been reported. We present the case of a 20-year-old man with GSD involving the thoracic and lumbar spine, which caused CSF leakage and Chiari-like tonsillar herniation. The patient underwent four spinal surgeries for osteolytic lesions of the spine over a 10-year period. Here, we discuss the possible aetiology of the development of CSF leakage. Epidural blood patch (EBP) was performed at the T11-T12 level to repair the CSF leakage. After EBP treatment, rebound intracranial hypertension (RIH) developed, and tonsillar herniation disappeared 2 months later. GSD involving the spine with CSF leakage and Chiari-like tonsillar herniation is relatively rare. For patients who have undergone multiple spinal surgeries, minimally invasive treatment is an alternative treatment for CSF leakage. EBP can repair CSF leakage secondary to GSD and improve chronic brain sagging, with reversibility of Chiari-like malformations.

Xing QQ ，Miao M ，Zhang QW ，Wu Y ，He FF ... -  《BMC Neurology》

Cerebrospinal fluid leakage in Gorham-Stout disease due to dura mater involvement after progression of an osteolytic lesion in the thoracic spine.

Suero Molina EJ ，Niederstadt T ，Ruland V ，Kayser G ，Stummer W ，Ewelt C ，Rössler J ... -  《-》

A case report of Gorham-Stout disease diagnosed during the course of recurrent meningitis and cholesteatoma.

Hosoya M ，Oishi N ，Nishiyama J ，Ogawa K ... -  《Journal of Otolaryngology-Head & Neck Surgery》