Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations

Area of Science:

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

Background:

• Infantile-onset Pompe disease (IOPD) is a severe, progressive glycogen storage disorder affecting cardiac and skeletal muscles.
• Sickle cell anemia (SCA) is a common inherited blood disorder caused by a mutation in the hemoglobin beta-chain gene.
• Concomitant diagnosis of IOPD and SCA in a single patient is exceptionally rare.

Observation:

• A male newborn of African ancestry presented with neonatal hypotonia and cardiomyopathy, indicative of IOPD.
• Molecular testing confirmed compound heterozygous GAA variants for IOPD and homozygous HBB variant for SCA.
• The patient required enzyme replacement therapy (ERT) with alglucosidase alfa, immune tolerance induction (ITI), red blood cell transfusions, and penicillin prophylaxis.

Findings:

• Successful management of IOPD and SCA required a multifaceted treatment approach, including ERT, ITI, and supportive care.
• The patient experienced complications, including recurrent respiratory infections, highlighting challenges in managing co-occurring conditions.
• This case represents the first reported instance of combined IOPD and SCA.

Implications:

• Emphasizes the critical role of newborn screening for early detection of rare genetic disorders like IOPD and SCA.
• Highlights the need for tailored treatment protocols and careful consideration of guideline limitations when managing patients with multiple, complex conditions.
• Underscores the importance of interdisciplinary collaboration for optimizing care in rare pediatric co-diagnoses.