[Morbus gaucher--a report of two cases]

Area of Science:

• Biochemistry
• Genetics
• Rare Diseases

Background:

• Inherited glucocerebrosidase deficiency causes lipid accumulation in lysosomes, forming Gaucher cells.
• Gaucher cells lead to hepatosplenomegaly, multi-organ dysfunction, and skeletal issues.
• Clinical features were first described by Philippe Charles Ernest Gaucher.

Observation:

• Two patients, a 36-year-old male and a 42-year-old female, presented with hepatosplenomegaly.
• Bone marrow examination confirmed Gaucher cells, indicative of Gaucher's disease.
• Both patients exhibited Type I Gaucher's disease, characterized by absence of CNS involvement.

Findings:

• The study identified Type I Gaucher's disease in two patients presenting with hepatosplenomegaly.
• Characteristic Gaucher cells were observed in bone marrow examinations.
• Definitive diagnosis through beta-glucocerebrosidase activity testing and molecular genetics was not feasible at the time.

Implications:

• Gaucher's disease, though rare, exists in the studied region.
• Molecular genetic and enzyme activity assays are crucial for accurate Gaucher's disease diagnosis.
• Further diagnostic capabilities are needed for managing Gaucher's disease patients.