Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma
| Autor: | Anupama Hegde, Jyoti R. Kini, Saraswathy Sreeram, Pai Rr, Sowmini P. Kamath |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
medicine.medical_specialty
Pathology congenital hereditary and neonatal diseases and abnormalities storage disorders medicine.medical_treatment Clinical Biochemistry Splenectomy Hepatosplenomegaly lcsh:Medicine Gastroenterology Asymptomatic Pallor haemoglobinopathies Internal medicine hemic and lymphatic diseases Pathology Section medicine medicine.diagnostic_test business.industry lcsh:R nutritional and metabolic diseases General Medicine medicine.anatomical_structure Liver biopsy Failure to thrive Bone marrow hepatosplenomegaly medicine.symptom business Glucocerebrosidase |
| Zdroj: | Journal of Clinical and Diagnostic Research, Vol 11, Iss 9, Pp ED14-ED15 (2017) |
| Popis: | Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis. Both thalassaemia and Gaucher disease can have similar haematologic manifestations and hence, their coexistence causes diagnostic dilemma. Our patient presented at one-and-a-half years with weakness, pallor, failure to thrive and massive hepatosplenomegaly. Clinical examination and history pointed to a lipid storage disease. Peripheral smear revealed microcytic hypochromic cells and nucleated red cells with haemolytic blood picture. Thalassaemia trait was indicated on haemoglobin variant analysis using High Performance Liquid Chromatography. Liver biopsy, bone marrow aspirate and therapeutic splenectomy revealed Gaucher-like cells. Type 1 Gaucher disease can be clinically asymptomatic as well as present with massive liver and spleen enlargement and involvement of bone marrow. Anaemia, splenomegaly and thrombocytopenia are the usual presentations at diagnosis, similar to the haemoglobinopathies. Gaucher-like cells with normal beta-glucocerebrosidase (pseudo-Gaucher cells) are seen in thalassaemia, leukaemia, mycobacterial infections and myeloma. Gaucher disease coexisting with thalassaemia trait is uncommon. We report the occurrence of thalassaemia trait and Gaucher disease in a child, which resulted in confusion regarding the haematological diagnosis. This report highlights the necessity of independent establishment of the diagnosis in every patient so that appropriate management decisions are taken. |
| Databáze: | OpenAIRE |
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