Purpose or Case Report: Gorham-Stout disease is an osteolytic bone disorder associated with abnormal lymphangiogenesis. The disease commonly involves the ribs, cranium, clavicles, and cervical spine; however, it may be seen anywhere throughout the skeleton. The disease has variable inheritance, has no known markers, does not exhibit a predilection for sex or race, and may present at any age, although it is usually diagnosed in adolescence. Gorham-Stout remains an exceedingly rare disease with only 300 reported cases in the literature.

Our patient is a 15-month-old, previously healthy child that presented with fevers and a seizure. CT head without contrast showed uncomplicated otitis media, and patient was appropriately treated and discharged. 4 months later, a follow up MRI brain with and without contrast was obtained for continued lethargy, poor oral intake, and right-sided slowing on EEG. Results showed fluid-filled polyostotic lesions within the right petrous bone and clivus with dehiscence along the posterior petrous bone. Given the polyostotic lesions without intervening inflammatory reaction, the diagnosis of Gorham-Stout was suspected. A subsequent bone survey did not reveal additional lesions. Follow up MRI imaging showed interval development of right cervical neck cystic spaces from petrous bone CSF leak, bilateral subdural effusions, and elevated intracranial pressures requiring ventriculoperitoneal shunt placement. On CT myelogram, a right pars nervosa meningocele was found, thought to be secondary to the above process.

Gorham-Stout remains an elusive disease that is difficult to diagnose as it has no known genetic precursors or associations. It exhibits variable phenotypic presentation, as in this case where it was seen in a 15-month-old child rather than at adolescence, with severe neurologic sequela from skull base lesions. The superimposed otitis media created an interesting diagnostic dilemma as the middle ear fluid was originally thought to represent an uncomplicated acute infection; it is unclear if the underlying disease process predisposed the patient to infection given the static fluid accumulation. Although typically a diagnosis of exclusion, Gorham-Stout should remain in the differential as timely identification of the disease will allow for more targeted management that can minimize osseous demineralization and potential sequela of disease.
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