Lysosomal storage disorders: Morphologic appraisal in Indian population

Area of Science:

• Hematology
• Genetics
• Pediatrics

Background:

• Lysosomal storage disorders (LSDs) are a group of over 50 genetic diseases caused by lysosomal enzyme deficiencies.
• These disorders affect cellular metabolism and can have significant clinical manifestations.

Purpose of the Study:

• To subclassify pediatric LSDs into Gaucher's and non-Gaucher's disease categories.
• To evaluate the utility of bone marrow morphology for this classification.

Main Methods:

• Retrospective review of pediatric LSD cases (<12 years) diagnosed via bone marrow aspiration and trephine biopsy over 12 years.
• Analysis of cytomorphologic variables, clinical, and hematologic parameters.

Main Results:

• 55 LSD cases were analyzed; 44% were Gaucher's disease and 56% non-Gaucher's disease.
• Anemia and thrombocytopenia were more frequent in Gaucher's disease.
• Neurologic symptoms were more common in non-Gaucher's cases.

Conclusions:

• Bone marrow morphology is adequate for classifying LSDs into Gaucher's and non-Gaucher's subtypes.
• This cytomorphologic classification is useful for therapeutic and prognostic purposes in resource-limited settings.