Spleen completely replaced by soap bubble like cysts of varying sizes with no parenchyma, bones [skull, vertebrae, ribs pelvis] are also studded with hundreds of cysts. There are two groups of lymphangioma each (2 by 2 cm approx) over right supraclavicular and right axilla both asymptomatic now.The supraclavicular swelling was partly removed surgically 3 months back elsewhere. Rest of solid organs and brain is not affected.
Should he be ventured, especially the role of splenectomy?
You could consider using interferon or rapamicin. INF has shown significant improvement in similar cases
This could be Gorham disease or systemic lymphangiomatosis. INF and rapamycin have shown response in some cases.
This is typical Gorham Stout Disease, or vanishing bones disease, or generalized lymphangiomatosis.
This is a really orphan disease and most of the patients do not survive the adolescence. We could survive only one patient (out of two we had seen within 25 years) since now nearly 17 years by using even radiation therapy and multiple operations after interferon without significant benefit, bleomycin, ligation of thoracic duct because of recurrent life threatening pleural effusions due to the lymphatic malformation (therapy resistent massive chylothorax- 2l per day). Splenectomy and resection of pancreatic tail was indicated also, because at the age of 6 months the huge abdominal lymphangiomatosis caused Klebsiella Sepsis and Kassabach Merritt syndrome as a sequelae. Also involvement of the pancreas, but no brain involvement as in your patient.
Very difficult to treat, Interferon 2 alpha (Wellferon, 3Mio every three days units for a year) had only limited benefit, but high side effects. Nevertheless it is recommended and most likely helpful to survive, even we cannot say from our experience what the real effect on the lymphatic malformation was.
At least we administered cytostatic therapy and by this in combination with multiple surgical interventions he survived with significant defects - but, he will start to study at University this year.
Therefore my recommendation is a multimodal combined symptomatic and systemic treatment by interferon, cytostatics, radiation and surgery as well as local use of Picibanil.
Maybe the treatment by Rapamycin will be a good idea as Israel Fernandez-Pineda and Jose Matute advises - we did not use because at that time -15 years ago- was not available yet.
Thanx Jose,Israel Fernandez-Pineda and Kurosh Paya for sharing your experience....It will help us in managing him better.
We are actually treating a patient with Gorham Stout disease with Rapamycin 2 x 0,8 mg/m²bodysurface per day - intended therapeutic drug level is 10 - 15ng/ml (trough level) (Pediatric Blood Cancer: Hamill et altera: Sirolimus for the treatment of complicatet vascular anomalies in children). Before that, Interferon (pegintron) and zoledronic acid (zometa) was unsuccessful to stop progression of the disease. Rapamycin is usually well-tolerated.
It seems doubtful, that this child will benefit from Splenectomy! Surgery plays a minor part in treatment of this systemic disease because it is never curative and therefore has to be limited to managment of (surgical) complications.
Unfortunately, there is no successful treatment. I prefer conservative treatment with cytostatics and radiation. I think the surgical treatment should be performed only for symptomatic tumors.
Multimodal treatment protocol is mandatory.
Surgery whereever possible.
Additional to the consideration of the other answers:
Sidenafil treatment
Intralesional radiofrequenzablation
Intralesional interstitial laser thearpy
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