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

Abstract

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.

Gorham-Stout Disease with Clinical Response to Sirolimus Treatment

“…Clinical presentation is variable, characterized by pain, loss of function in limbs and in rare occasions some catastrophic features such as massive chylothorax possibly related to thoracic lymphatic dysfunction. Approximately 30% of cases affect the maxillary region as in our patient; however, any bone may be eventually affectedother than the maxillary region, predilection for upper limb bones and the pelvis has been described [1,2] . Even though this clinical condition may be observed at any age, it generally presents in the second or third decade, with no gender, race or geographical predilection.…”

Síndrome de gorham stout. Caso clínico

“…La paciente del presente reporte, tenía un estudio previo de anatomía patológica de tumor de fémur sin hallazgos llamativos por lo que se descartó patología neoplásica, presentó además episodios recurrente de quilotórax espontáneo. El derrame pleural y el quilotórax pueden desarrollarse en el GSS, cuando la invasión linfoangiogénica se extiende a la cavidad (1) pleural o al conducto torácico . El desenlace fatal suele estar relacionado con la presencia de quilotórax o inestabilidad espinal causada por destrucción osteolítica de las vértebras, con una mortalidad entre el 33 al 53%.…”

“…La incidencia es muy baja, con solo unos pocos cientos de informes de casos descritos en la literatura. El trastorno no parece mostrar preferencia por raza, área geográfica o sexo, aunque puede ser ligeramente más prevalente en los hombres, la mayoría de los casos que se han descrito que han ocurrido antes de los 40 años, con una edad (1) promedio de 25 años . casos.…”

Das Gorham-Stout-Syndrom – eine diagnostische und therapeutische Herausforderung

“…Laborchemisch ergibt sich beim GSS oftmals kein zielführender Befund, da relevante Blutparameter (z.B. Alkalische Phosphatase, Calcium) häufig auch normwertig sein können [6,7]. Dennoch ist es wichtig, im Rahmen der Diagnosestellung eine umfangreiche Blutuntersuchung durchzuführen, um mögliche Differenzialdiagnosen aus dem lymphatischen Formenkreis (z.B.…”

“…Dennoch ist es wichtig, im Rahmen der Diagnosestellung eine umfangreiche Blutuntersuchung durchzuführen, um mögliche Differenzialdiagnosen aus dem lymphatischen Formenkreis (z.B. die generalisierte lymphatische Anomalie) auszuschließen [6,7].…”