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Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report

Ying Zhang1, Cheng Zhang2, Jian-Bo Shu3

  • 1Department of Neonatal, Tianjin Children's Hospital (Tianjin University Children's Hospital), Tianjin 300134, China. yingzhangqh@126.com.

World Journal of Clinical Cases
|May 23, 2022
PubMed

Insights

Early diagnosis and enzyme replacement therapy (ERT) offer a good prognosis for infantile-onset Pompe disease (IOPD) with atypical presentations. This rare genetic disorder, glycogen storage disease type II, requires prompt intervention for better outcomes.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Pediatrics

Background:

  • Pompe disease, a glycogen storage disorder (GSD II), presents with infantile (IOPD) and late-onset (LOPD) forms.
  • It is an autosomal recessive genetic disease with an estimated incidence of 1 in 40,000 neonates.
  • Severe IOPD cases often lead to early death from cardiopulmonary failure, but enzyme replacement therapy (ERT) has improved outcomes.

Observation:

  • A case of atypical IOPD in China presented unusually without significant skeletal muscle involvement.
  • Diagnostic methods included physical examination, biochemical tests, chest radiography, and acid α-glucosidase (GAA) mutation analysis.
  • The patient received 4 months of ERT followed by a 12-month follow-up period.

Findings:

  • The atypical IOPD case demonstrated a positive response to ERT.
  • The patient achieved a very good prognosis under the specific ERT regimen.
  • This case highlights an unusual glycogen accumulation syndrome type II presentation.

Implications:

  • Early diagnosis and timely ERT are crucial for improving the prognosis of atypical IOPD.
  • This case underscores the importance of considering varied presentations of Pompe disease.
  • Prompt and appropriate management can significantly alter the clinical course and outcome for affected infants.
Abstract

Keywords:
Case reportEnzyme replacement therapyInfantile-onset Pompe diseasePompe diseaseRare genetic disease

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