Fatal Progression of Gorham Disease: A Case Report and Review of the Literature

Kim, Min-Keun; Hong, Jin-Pyo; Kim, Seong‐Gon; Lee, Seok-Keun

doi:10.1016/j.joms.2015.06.154

Cited by 14 publications

(17 citation statements)

References 35 publications

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“…Many studies have correlated vascular endothelial growth factor A and interleukin-6 to be increased in the peripheral circulation of affected individuals, and other biomarkers, like erythrocyte sedimentation rate and alkaline phosphatase. Some studies have found an increased concentration of platelet-derived growth factor BB, that plays a significant role in the pathogenesis of lymphedema and lymphangiogenesis in tumours 19–23. Chylothorax probably occurs secondary to direct extension of lymphatic dysplasia into the pleural cavity or by invasion of the thoracic duct 24.…”

Section: Discussionmentioning

confidence: 99%

Unusual case of chylothorax with unilateral limb swelling

Jha

Jha²

2020

BMJ Case Rep

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Here, we present an unusual case of 26-month male toddler who presented with swelling of right lower limb with painless hyperpigmented patch over right groin of 18 months duration associated with recent onset respiratory distress. Evaluation revealed right chylothorax and MRI revealed altered signal intensity in bones and muscles of right lower limb. Lymphoscintigraphy revealed absence of lymphatic channels in right lower limb. Skin biopsy from hyperpigmented patch was suggestive of vasoformative lesion favouring lymphangiomatosis. A diagnosis of Gorham’s syndrome was made, and our patient was managed with drainage of chylothorax followed by pleurodesis, parenteral nutrition and radiotherapy.

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Section: Discussionmentioning

confidence: 99%

Unusual case of chylothorax with unilateral limb swelling

Jha

Jha²

2020

BMJ Case Rep

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“…Several studies have shown that vascular endothelial growth factor (VEGF-A) and interleukin-6 may be elevated in the peripheral circulation of affected individuals, as well as other biomarkers, such as erythrocyte sedimentation rate and alkaline phosphatase [21–23]. Other studies have shown an increase in the concentration of platelet-derived growth factor (PDGF-BB), which plays an important role in the pathogenesis of lymphedema and lymphangiogenesis in tumors [24–34]. There are theories based on cellular and humoral changes as well as the role of angiogenic factors [26].…”

Section: Discussionmentioning

confidence: 99%

“…There are only 5 cases of pediatric patients with Gorham-Stout disease with spinal involvement reported in the literature in the last 10 years, with variable evolution from mild symptoms to death. However, no previous cases with involvement at the cervical level were found [29, 31–34].…”

Section: Discussionmentioning

confidence: 99%

A report of two children with Gorham-Stout disease

et al. 2019

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Background Gorham-Stout disease is a rare condition characterized by unifocal and massive type IV osteolysis (variant of idiopathic nonhereditary osteolytic disease) with a slow progression, which is self-limiting for some years. It is characterized by recurrent vascular tumors with disruption of the anatomical architecture and intraosseous proliferation of vascular channels that leads to the destruction and resorption of the bone matrix. The aim of this study is to present the clinical features of this disease, as well as the importance of prompt diagnosis and treatment, with a review of the reported cases. Case reports We describe two cases of Gorham-Stout disease between 2013 and 2017 with surgical interventions, follow-up and results. Case one involves an 11-year-old male with involvement of the left iliac bone, with adequate evolution after a surgical procedure with a lyophilized cadaveric tricortical bone allograft. Case two involves a 6-year-old male with cervical spine C1-C3 repercussion; in the protocol for surgical treatment, he presented with signs of spinal cord compression and died. Conclusion Diagnosis of Gorham-Stout disease is made by exclusion, and its clinical presentation varies widely, from spontaneous remission to a fatal outcome. Electronic supplementary material The online version of this article (10.1186/s12887-019-1561-0) contains supplementary material, which is available to authorized users.

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“… 6 To the best of our knowledge, 13 cases of GD of spine have been reported after 2005. 8 20 21 22 23 24 25 26 27 28 29 30 31 A brief review of these cases with treatment and outcome has been shown in Table 2 . Out of the total 41 reported cases of GD of spine, cervical spine is the most commonly affected with 11 cases involving only cervical spine and additional 6 cases involving cervicothoracic spine.…”

Section: Discussionmentioning

confidence: 99%

Vanishing bone disease of chest wall and spine with kyphoscoliosis and neurological deficit: A case report and review of literature

Srivastava¹,

Aggarwal²,

Nemade³

et al. 2017

IJOO

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Vanishing bone disease is an extremely rare disorder of unknown etiology characterized by idiopathic osteolysis of bone. We describe a case of vanishing bone disease of chest wall and spine with kyphoscoliosis and neurological deficit. A 17-year-old male presented with gradually progressive deformity of back and dorsal compressive myelopathy with nonambulatory power in lower limbs. Radiographs revealed absent 4th–7th ribs on the right side with dorsal kyphoscoliosis and severe canal narrowing at the apex. The patient was given localized radiotherapy and started on a monthly infusion of 4 mg zoledronic acid. Posterior instrumented fusion with anterior reconstruction via posterolateral approach was performed. The patient had a complete neurological recovery at 5 weeks following surgery. At 1 year, anterior nonunion was noted for which transthoracic tricortical bone grafting was done. Bone graft from the patient's mother was used both times. At 7 months following anterior grafting, the alignment was maintained and the patient was asymptomatic; however, fusion at graft-host interface was not achieved. Bisphosphonates and radiotherapy were successful in halting the progress of osteolysis.

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Fatal Progression of Gorham Disease: A Case Report and Review of the Literature

Cited by 14 publications

References 35 publications

Unusual case of chylothorax with unilateral limb swelling

Unusual case of chylothorax with unilateral limb swelling

A report of two children with Gorham-Stout disease

Vanishing bone disease of chest wall and spine with kyphoscoliosis and neurological deficit: A case report and review of literature

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