Abstract
Gaucher’s Disease (GD) is an autosomal recessive systemic lysosomal storage disorder, characterized by glucocerebroside deposition in cells of macrophage-monocyte system as result of deficiency in lysosomal β-glycosidase (glucocerebrosidase). GD is a rare genetic disorder. It is the most common among the lysosomal storage disorders. Hereby we report a 2-year-old male presented with weakness, pallor and gradually enlarge belly. In the beginning the diagnosis was suspected acute leukemia, an abnormality in hematooncology due to bisitopenia and organomegaly. Therefore patient was gone through Bone Marrow Aspiration (BMA) to confirm the diagnosis, however the results of 3 times BMA were not align with acute leukemia. Moreover the history and clinical examination pointed to be a lipid storage disease. Finally patient was diagnosed as GD after the smear of BMA showed foam cell. In addition the confirmation of Gaucher’s disease was performed by measurement of glucocerebrosidase level, which resulted low in β-Glukosidase 0.97 uM/hr (normal level > 1.8 uM/hr). Therefore we emphasize the importance of early recognition by clinical manifestation and histological findings. GD should be considered as differential diagnosis of children with unexplained hepatosplenomegaly. Patients suspected with acute leukemia should be examined for possibility of GD from bone marrow smear. Furthermore, early recognition of GD would lead to safe and effective treatment with enzyme replacement which can decrease morbidity.
Highlights
Gaucher’s disease (GD), a lysosomal storage disorder is caused by defect in the housekeeping gene lysosomal glucocerebrosidase which present on the first chromosome (1q 22)
Bone marrow aspiration is not mandatory to confirm a diagnosis of GD, but it may be performed in patients without a diagnosis accompanied with isolated thrombocytopenia and/or hepatosplenomegaly it American Journal of Pediatrics 2020; 6(3): 317-321 can help when Gaucher cells are found [4]
Bone marrow aspiration is not mandatory to confirm a diagnosis of GD, but it may be performed on patients without a diagnosis when isolated thrombocytopenia and/or hepatosplenomegaly are found and it can help when Gaucher cells are found [4]
Summary
Gaucher’s disease (GD), a lysosomal storage disorder is caused by defect in the housekeeping gene lysosomal glucocerebrosidase which present on the first chromosome (1q 22) It was first described by a French physician, Philippe Charles Ernest Gaucher in a 32-year-old woman whose liver and spleen enlarged [1, 2]. Out of the three types of GD, type 1 is the most common type, which represents 95% of all cases It is generally characterised by hepatosplenomegaly, bone and lung disease, hematologic abnormalities such as anemia, thrombocytopenia and coagulation abnormalities. An increased knowledge about the emotional health of these patients and the psychosocial effects of living and coping with GD would aid treatment beneficially [6]
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
