Non-neuropathic Gaucher disease presenting in infancy

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Gaucher disease is a lysosomal storage disorder caused by beta-glucosidase deficiency.
• Classical non-neuropathic Gaucher disease typically presents in adults, particularly those of Ashkenazi Jewish descent.
• Neuropathic forms of Gaucher disease can present in infancy with severe neurological involvement.

Observation:

• Eleven non-Jewish South African children under 4 were diagnosed with non-neuropathic Gaucher disease.
• These children presented precociously with rapid disease course but lacked neurological symptoms.
• In contrast, 24 of 28 Ashkenazi Jewish patients studied presented after puberty.

Findings:

• Beta-glucosidase activity was deficient in all studied patients, regardless of ancestry or age of presentation.
• Histological criteria did not differentiate between the patient groups.
• Only one case of infantile neuropathic Gaucher disease was identified during the survey.

Implications:

• The atypical, non-neuropathic presentation in young children is crucial for differential diagnosis in pediatric hepatosplenomegaly.
• Understanding ethnic and age-related variations in Gaucher disease presentation is vital for timely diagnosis and management.
• This study highlights the importance of considering non-classical Gaucher disease phenotypes in diverse pediatric populations.