Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.

Area of Science:

• Genetics and rare diseases
• Pediatric hematology
• Lysosomal storage disorders

Background:

• Gaucher disease (GD) results from glucocerebrosidase deficiency, leading to glucosylceramide buildup.
• Chronic neuronopathic GD presents unique diagnostic challenges, particularly in early childhood.

Observation:

• A 15-month-old boy presented with refractory anemia, hepatosplenomegaly, and Gaucher cells in bone marrow.
• Initial diagnosis was type 1 GD based on homozygous L444P GBA mutation and low enzyme activity.
• The patient later developed cognitive impairment and supranuclear gaze palsy, indicating type 3 GD.

Findings:

• Enzyme replacement therapy (ERT) with imiglucerase initially normalized hematologic parameters and improved hepatosplenomegaly.
• Despite ERT, neurological progression occurred, necessitating continued treatment for type 3 GD.
• The case underscores the variability in GD presentation and progression.

Implications:

• Pediatric hemato-oncologists must consider GD in children with unexplained anemia, bone abnormalities, or neurological symptoms.
• Early recognition and appropriate management, including ERT, are crucial for Gaucher disease patients.
• This case emphasizes the importance of long-term monitoring for neurological complications in neuronopathic GD.