Background. Mesenteric lymphadenopathy is a rare manifestation of Gaucher disease (GD) in children and can be accompanied by protein losing enteropathy (PLE). PLE is a difficult-to-treat complication of GD. To date, only a few pediatric GD cases with PLE and massive mesenteric lymphadenopathies have been reported. Case. Here, we report a girl with chronic neuronopathic GD, whose disease course was complicated by massive mesenteric lymphadenopathies with resultant protein losing enteropathy despite a regular and appropriate enzyme replacement therapy of 60 IU/kg/biweekly until the development of mesenteric lymphadenopathies and 120 IU/kg/biweekly thereafter. Conclusions. PLE is a devastating and life threatening complication of GD developing despite long term use of high dose ERT. Clinicians should be alert for this complication particularly in GD patients presenting with progressive abdominal distension, edema, ascites and diarrhea or in patients who have already developed mesenteric lymphadenopathies. Timely diagnosis may allow early intervention with previously suggested surgical or medical treatment options. Although there is no specific and effective treatment, surgical and aggressive medical interventions in addition to ERT were reported to relieve diarrhea and halt progression of mesenteric lymphadenopathies.
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1. Burrow TA, Cohen MB, Bokulic R, et al. Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy. J Pediatr 2007; 150: 202-206.
2. Lee BH, Kim DY, Kim GH, Cho KJ, Yoon HK, Yoo HW. Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher disease. Mol Genet Metab 2012; 105: 522-524.
3. Mhanni AA, Kozenko M, Hartley JN, Deneau M, El-Matary W, Rockman-Greenberg C. Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease. Mol Genet Metab Rep 2016; 6: 13-15.
4. Abdelwahab M, SeifEldien HM. Mesenteric and mediastinal lymphadenopathy in Egyptian children with Gaucher disease types 1 and 3 treated with enzyme replacement therapy. J Pediatr Hematol Oncol 2015; 37: e316-e322.
5. Yagci B, Salor O, Yalcin B, Gürakan F, Güçer S, Büyükpamukçu M. Giant lymphadenopathy infiltrated by gaucher cells mimicking lymphoma. Pediatr Blood Cancer 2009; 52: 870-871.
6. Altarescu G, Hill S, Wiggs E, et al. The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher’s disease. J Pediatr 2001; 138: 539-547.
7. Burrow TA, Sun Y, Prada CE, et al. CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings. Mol Genet Metab 2015; 114: 233-241. 8. Cox TM, Aerts JM, Belmatoug N, et al. Management
of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. J Inherit Metab Dis 2008; 31: 319-336.
9. Kewcharoen J, Mekraksakit P, Limpruttidham N, et al. Budesonide for protein losing enteropathy in patients with fontan circulation: a systematic review and meta-analysis. World J Pediatr Congenit Heart Surg 2020; 11: 85-91.