Our purpose is to report an exemplary case of Gorham-Stout Disease (GSD) of the skull with medically-treated intracranial hypertension abruptly giving way to acute intracranial hypotension with cerebrospinal fluid leak.

GSD is a rare and commonly misdiagnosed disorder characterized by uncontrolled proliferation of blood and lymphatic vessels within bone tissue and subsequent osteolysis and fibrosis, which can manifest a number of neurological complications if affecting any of the neuraxial bones.  Neurological complications include cerebrospinal fluid leakage, recurrent meningitis, acquired Chiari malformations, and intracranial hyper- and hypotension. Moreover, the critical transition between intracranial hyper- and hypotension in these patients may be unpredictable and has significant treatment implications. 

This is a case study detailing our patient’s clinical course, diagnostic procedures, and related imaging. 

A thin 16-year old male with a medical history of GSD of the left mandible and skull base, as well as pseudotumor cerebri on acetazolamide, presented to the emergency department with progressively worsening posterior headache and neck pain for five days. Lumbar puncture revealed markedly low opening pressure compared to prior measurements, marked lymphocytic pleocytosis, and protein elevation. Computed tomography (CT) scan of the head revealed progression of known lytic lesions of the petrous apices of the skull and the posterior skull base. Magnetic resonance imaging revealed T2 hyperintensity within these lesions, suggestive of the presence of CSF, as well as sagging of the corpus callosum and brainstem with cerebellar tonsillar ectopia suggestive of intracranial hypotension.  CT myelogram confirmed the cerebrospinal fluid leak.

GSD of the skull is associated with intracranial hyper- and hypotension. In patients with GSD and medically-managed intracranial hypertension, clinicians should be aware of the risk of sudden intracranial hypotension from progression of lytic bone lesions and development of a cerebrospinal fluid fistula.