Intracranial hypotension and hypertension: reversible Chiari malformation due to dynamic cerebrospinal fluid abnormalities in Gorham-Stout disease. Case report

Abstract

<jats:p>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 H<jats:sub>2</jats:sub>O). 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 H<jats:sub>2</jats:sub>O). 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.</jats:p>

Cerebrospinal fluid–lymphatic fistula in a child with generalized lymphatic anomaly treated with targeted blood patch — a rare case report and review of the literature

“…Finally, Xing et al [ 5 ] successfully treated a 20-year-old male with GDS and CSF-fistula at an unspecified level with an epidural blood patch at the level T11-12. In addition, there have been other reports of patients with GDS presenting with cerebellar herniation, which might also possibly be secondary to a CSF-lymphatic fistula [ 11 ], similar to the cases mentioned above.…”

Cerebellar tonsillar descent: A diagnostic dilemma between Chiari malformation type 1 and spinal cerebrospinal fluid leak

“…A number of authors have reported sCSF leaks masquerading as CM, but primarily describe this in terms of mishaps avoided. They describe how they nearly treated CM with suboccipital decompression, but realized they were dealing with a sCSF leak prior to engaging in surgery [13,14,15].…”

Cerebrospinal fluid-lymphatic fistula causing spontaneous intracranial hypotension in a child with kaposiform lymphangiomatosis

“…The second case involved a 30-year-old man who presented with intractable headaches and was ultimately diagnosed with a spinal CSF leak related to a fistula between a thoracic nerve root and an osteolytic lesion in his thoracic spine [3]. Other publications have also reported an "association" of Chiari I as well as skull base CSF leaks related to osteolytic lesions in patients with Gorham-Stout disease [2,3,6]. It is possible that many of the previously reported cases of acquired Chiari I malformations in the setting of Gorham-Stout disease may actually represent brain sagging and tonsillar ectopia secondary to spontaneous intracranial hypotension and a CSF-lymphatic fistula, as in our case.…”