Objectives: To determine the clinical and hematological manifestations of various lysosomal storage disorders in patients presenting to Fazle Raziq Lab Peshawar for bone marrow examination.
Material and Methods:This descriptive observational study was conducted in Fazle Raziq Lab Peshawar from March 2011 to April 2013. A total of 413 bone marrows were aspirated during the two year and two months duration. 22 patients were found to have lysosomal storage disorders.
A detailed history was recorded on a pre-designed proforma prepared in accordance with the objectives of the study.
Results: Out of total 413 bone marrow aspirates 22 patients were found to have lysosomal storage disorders. Among them 15(77.3%) were males and 9(22.7%) were females. The age range of the patients was from 2 months to 12 years with mean age of 16 months and mode of age 12 months. Two patients (9%) had platelet below 100000/cmm. 50 % (11) cases had hemoglobin below 10g/dl. Out of total 12 cases (22.6%) had raised total leukocyte count > 11000/cmm, While 11 (50 %) cases had anemia with a hemoglobin level of 10.0 G/dl. Splenomegaly was found in 18 patients (81.8%) while 16 (72.8%) patients had hepatomegaly. The clinical presentation was variable with failure of thrive, pallor, repeated infections and pyrexia of unknown origin. Cervical lymphadenopathy, weight loss was also seen in two patients. Gaucher disease was found in 15 (68.2%) of the total cases followed by Niemann- Pick Disease in 7 (30.8%).
Conclusion: Lysosomal storage disorders though rare are common in pediatric age group with variable clinical and hematological presentation. A high index of clinical Suspicion should be kept in mind regarding lysosomal storage disorders if a child with cytopenias, pallor, failure to thrive and organomegaly presents to hematology clinic.
Key words: Storage cell disorders, Gaucher disease, Niemann Pick disease.
|
