Journal of Neurosurgery: Pediatrics, Ahead of Print.
Gorham-Stout disease (GSD) is an intractable disease characterized by massive osteolysis caused by abnormal lymphangiogenesis in bone. In rare cases of GSD, CSF abnormalities develop. The authors present the case of a 19-year-old woman with GSD presenting with orthostatic headache due to intracranial hypotension (5 cm H2O). The clinical course of this case was very unusual. Orthostatic headache was associated with a CSF leak from the thigh after pathological fractures of the femur and pelvis. The chronic CSF leak led to acquired Chiari malformation (CM) with syringomyelia. After an epidural blood patch, her neurological status improved; however, after the complete arrest of the CSF leak from the thigh, she presented with severe nonpostural headache and progressive visual acuity loss with optic papilledema. A ventriculoperitoneal shunt was placed to treat intracranial hypertension (50 cm H2O). Headache improved and optic papilledema decreased after shunt surgery. This case shows that dynamic CSF abnormalities may lead to reversible CM in patients with GSD. Sealing a CSF leak rather than performing suboccipital decompression is recommended for acquired CM resulting from a CSF leak.