The Turkish Journal of Pediatrics 2021 , Vol 63 , Num 4
A very rare cause of protein losing enteropathy: Gaucher disease
Mehmet Akif Göktaş 1 ,Ersin Gümüş 1 ,Hülya Demir 1 ,Hayriye Hızarcıoğlu Gülşen 1 ,İnci Nur Saltık Temizel 1 ,Hasan Özen 1 ,Şafak Güçer 2 ,Aysel Yüce 1
1 Division of Pediatric Gastroenterology, Hepatology and Nutrition, Hacettepe University Faculty of Medicine, Ankara, Turkey
2 Division of Pediatric Pathology Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
DOI : 10.24953/turkjped.2021.04.020 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. Keywords : enzyme replacement therapy; lymphadenopathy; lysosomal storage disorder; Gaucher disease

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