C31 Gorham-Stout Disease (GSD)

Outline What is Gorham-Stout Disease What does it looks like Who can get it Imaging  Prognosis Case Treatment Resources

What is Gorham-Stout Disease Characterized by the pathologic process Osteolysis—Destruction of bone Types I-IV: Gorham-Stout is IV Idiopathic Affects multiple body systems Skeletal, Lymphatic, Nervous Diagnosis Criteria "Progressive osteolysis with resorption and cortical loss' Typically regional, but can affect more than one area Extremely rare only 300 cases are recorded in medical literature 

What does it look like Patient presented with chronic pelvic pain Patients first radiograph taken in 1985  Second taken a year later

What does it look like  Distortion of the left clavicle and scapula in a 12 year old 

Who can get it Usually found in young and adults up to the age of 40 also found in infants less than a month old and adults older than 70 Affects more males than females GSD is so rare it goes undiagnosed or misdiagnosed No connection to ethnicity or heredity 

Imaging " Plain X-rays, initially, show radiolucent foci in the intramedullary or subcortical regions and, later, slowly progressive atrophy, dissolution, fracture, fragmentation and disappearance of a part of a bone, with tapering or “pointing” of the remaining osseous tissue and atrophy of soft tissues" X-ray Bone Density MRI

Prognosis Generally positive prognosis Better prognosis if the disease affects extremities rather than the spine or ribs Can be fatal if the disease creates neurological or lymphatic problems

Case 9 year old girl presents with trouble breathing and pain in lower extremity Modalities used for diagnosis X-rays CT MRI Nuclear medicine: lymphoscintigraphy Findings Multiple osteolytic lesions in the left tibia and fibula Lytic mass on the right clavicle Pleural effusions Chylothorax Multiple fractures

Citation: Davalos EA, Gandhi NM, Barank D. Varma RK Citation: Davalos EA, Gandhi NM, Barank D. Varma RK. Gorham-Stout disease presenting with dyspnea and bone pain in a 9-year-old girl. Radiology Case Reports. (Online) 2015;10(2);1110

Treatment Each treatment is specific to the patients symptoms Surgery to remove the affected areas Bone grafts have been used to support new bone growth in conjunction with surgery Interferon for lymphatic system Bisphosphonates for slowing bone destruction Radiation therapy had been proven affective.  Positive results have been seen with a total dose of 30-45 Gy For upper extremity positive results were seen with a total dose of 15 Gy

Resources Davalos EA, Gandhi NM, Barank D. Varma RK. Gorham-Stout disease presenting with dyspnea and bone pain in a 9-year-old girl. Radiology Case Reports. (Online) 2015;10(2);1110 El-Kouba G, de Araújo Santos R, Pilluski P, Severo A, Lech O. GORHAM-STOUT SYNDROME: PHANTOM BONE DISEASE. Revista Brasileira de Ortopedia (English Edition). 2010;45(6):618-622. doi:10.1016/s2255-4971(15)30313-x. Gorham-Stout Disease - NORD (National Organization for Rare Disorders). NORD (National Organization for Rare Disorders). 2017. Available at: https://rarediseases.org/rare- diseases/gorham-stout-disease. Accessed March 11, 2018. Kulenkampff, HA., Richter, G.M., Hasse, W.E. et al. International Orthopaedics (1990) 14: 361. https://doi.org/10.1007/BF00182645 Lala, S., Mulliken, J.B., Alomari, A.I. et al. Skeletal Radiology (2013) 42: 917. https://doi.org/10.1007/s00256-012-1565-4 Liu, Y., Zhong, DR., Zhou, PR. et al. Clin Rheumatol (2016) 35: 813. https://doi.org/10.1007/s10067-014-2780-2 Stöve, J. & Reichelt, A. Arch Orthop Trauma Surg (1995) 114: 207. https://doi.org/10.1007/BF00444264