Increased Intracranial Pressure in a Boy with Gorham-Stout Disease

Patel, Manisha K.; Mittelstaedt, Brent R.; Valentin, Frank; Thomas, Linda P.; Carlson, Christian L.; Faux, Brian M.; Hsieh, David T.

doi:10.1159/000445318

Cited by 5 publications

(3 citation statements)

References 12 publications

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“…Our literature search found only 13 patients with GSD who presented with abnormalities in CSF and intracranial pressure ( Table 1). [1][2][3]5,[7][8][9]11,12,[14][15][16]18 In most patients, a CSF leak was identified from the osteolytic skull base bone. There has been no case report of a patient with GSD complicated by a CSF leak from the thigh.…”

Section: Discussionmentioning

confidence: 99%

“…Among the 13 reported patients with an abnormality in the CSF in the literature, 4 showed increased intracranial pressure. 7,11,15,16 Peragallo et al reported rebound intracranial hypertension (56 cm H 2 O) after the treatment of a CSF leak from the temporal bone in a patient with GSD. 16 The case initially presented with intracranial hypotension and meningitis that occurred from a CSF leak.…”

Section: Discussionmentioning

confidence: 99%

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

Yoshimoto¹,

Takai²,

Takahashi

et al. 2018

Journal of Neurosurgery: Pediatrics

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

Yoshimoto¹,

Takai²,

Takahashi

et al. 2018

Journal of Neurosurgery: Pediatrics

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“…Surgical treatment is applied if patients complain about severe pain and impaired function (7,37,38), if there is a fracture or a high risk of fracture, or if complications occur such as an increased intracranial pressure (39) or chylothorax (40) that need surgical intervention. Surgery can consist of removal of the affected bone tissue, with subsequent reconstruction by the use of bone grafts, prostheses, or both.…”

Section: Treatmentmentioning

confidence: 99%

A Large Skull Defect Due to Gorham-Stout Disease: Case Report and Literature Review on Pathogenesis, Diagnosis, and Treatment

et al. 2020

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A 24-year old man was referred to the Erasmus MC Bone Center because of an asymptomatic increasing skull defect of the left parietal bone. The defect was first noticed at the age of six, and gradually increased over the years. His medical history was unremarkable, without any known trauma and a negative family history for bone diseases. Laboratory tests showed a low vitamin D level without other abnormalities. Particularly, there was no increase in markers of inflammation or bone turnover. CT-scans of the skull showed an osteolytic region of the parietal skull bone, with a two-centimeter increase in diameter over 9 years. Contrast enhanced MRI showed lymphangiogenic invasion, which was compatible with our suspicion of Gorham-Stout disease. The patient was referred to the neurosurgeon for treatment with a bone graft while considering additional drug treatment. Gorham-Stout or vanishing bone disease is a rare entity characterized by progressive osteolysis with lymphangiogenic bone invasion. Although already reported in 1838, currently the diagnosis and treatment of Gorham-Stout disease is still challenging. The underlying pathophysiology is not clarified yet and several theories exist. The disease usually affects persons younger than 40 years and the majority present with bone disease of the maxillofacial region, the upper extremities or the torso. The clinical presentation includes most frequently pain, swelling, and functional impairment of the affected region, but the disease can also be asymptomatic. Laboratory investigations are usually normal, and diagnosis is based upon imaging and sometimes pathology examination of affected bone tissue. Treatment is experimental and there is no general consensus about the best option due to lack of randomized controlled trials. Case reports showed patients treated with bisphosphonates, interferon-alpha, anti-VEGF therapy, mTOR inhibitors, and radiotherapy. There are some reports of surgery with prosthetic or bone grafts but no long-term follow-up data exist. This paper describes a unique case of Gorham-Stout disease of the parietal skull bone and discusses the current state of knowledge about this rare bone disease.

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Pseudotumor cerebri in kaposiform lymphangiomatosis: a case report and pathogenetic hypothesis

et al. 2018

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A network of intracranial lymphatics is presently being investigated. Neuroimaging excluded KLA infiltration of the skull and/or meninges, leaving as the most plausible explanation for the child's pseudotumor cerebri the existence of an increase in intracranial venous pressure by venous compression at the thorax. To our knowledge, our case constitutes the first report of pseudotumor cerebri occurring in the context of KLA.

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Increased Intracranial Pressure in a Boy with Gorham-Stout Disease

Cited by 5 publications

References 12 publications

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

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

A Large Skull Defect Due to Gorham-Stout Disease: Case Report and Literature Review on Pathogenesis, Diagnosis, and Treatment

Pseudotumor cerebri in kaposiform lymphangiomatosis: a case report and pathogenetic hypothesis

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