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Gaucher's disease with uncommon presentations.

Sanjay Sen Gupta¹, Palash Mondal, Nandita Basu

¹Department of Pathology, B C Roy Children's Hospital, Kolkata, India.

Journal of Cytology

|September 23, 2011

Summary

Gaucher's disease, a lysosomal storage disorder, results from glucocerebrosidase deficiency causing glucosylceramide accumulation. Early diagnosis is crucial for effective enzyme replacement therapy to manage this genetic condition.

Keywords:

Gaucher's disease fine needle aspiration cytology splenic aspirate

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Area of Science:

Genetics and Genetic Diseases
Biochemistry
Pediatrics

Background:

Gaucher's disease is the most prevalent lysosomal storage disorder, characterized by a genetic defect leading to deficient glucocerebrosidase activity.
This deficiency causes the accumulation of glucosylceramide within lysosomes, presenting with varied clinical manifestations due to autosomal recessive transmission.
The disease is classified into three types: Type I (nonneuronopathic), Type II (acute neuronopathic), and Type III (chronic neuronopathic).

Observation:

This report details two pediatric cases of Gaucher's disease exhibiting uncommon clinical presentations.
The cases underscore the diagnostic challenges and the importance of considering Gaucher's disease in early childhood, even with atypical symptoms.

Findings:

The study highlights unusual early childhood presentations of Gaucher's disease, emphasizing the diagnostic variability.
These cases demonstrate that Gaucher's disease can manifest atypically in young patients, necessitating a broad differential diagnosis.

Implications:

Early and accurate diagnosis of Gaucher's disease is critical for initiating timely treatment.
Enzyme replacement therapy can effectively halt disease progression, improving outcomes for affected children.