Neonatal presentation of I-cell disease

Area of Science:

• Biochemistry
• Genetics
• Pediatric Medicine

Background:

• I-cell disease (ICD), a rare lysosomal storage disorder, results from defective N-acetylglucosamine-1-phosphotransferase activity.
• This defect impairs lysosomal enzyme targeting, leading to enzyme accumulation in the extracellular matrix and cellular deficiencies.

Observation:

• Two pediatric patients diagnosed with I-cell disease in early infancy are presented.
• These patients exhibited fewer and less severe clinical and radiographic features typically associated with ICD.

Findings:

• The presented cases highlight variability in I-cell disease presentation during infancy and early childhood.
• Neonatal and early childhood manifestations of ICD can differ significantly from established descriptions.

Implications:

• Recognizing atypical presentations of I-cell disease is vital for timely diagnosis and intervention.
• Further research into the phenotypic spectrum of ICD may improve patient management and genetic counseling.