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Peer-reviewedCC BY-NC 4.0Iranian Journal of Child Neurology

Early Cardiac Involvement in Late-Onset Pompe Disease: A Case Report from an Iranian Consanguineous Family

  • Atefeh Mir1,2
  • Shadi Khedri3
  • Zahra Abbasi1
  • Ali Khajeh4,5
5 affiliations
  1. 1Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran
  2. 2Department of Genetics, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran
  3. 3Cellular and Molecular Research Center, Research Institute of Cellular and Molecular Sciences in Infectious Diseases, Zahedan University of Medical Sciences, Zahedan, Iran
  4. 4Children and Adolescence Research Center, Zahedan University of Medical Sciences, Zahedan, Iran
  5. 5Department of Pediatrics, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran
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Abstract

Pompe disease (glycogen storage disease type II) is a rare autosomal recessive lysosomal storage disorder caused by GAA gene mutations, leading to acid α-glucosidase deficiency and glycogen accumulation in multiple tissues. Late-Onset Pompe Disease (LOPD) typically manifests after infancy without significant cardiac involvement. The present study reports a 16-year-old Iranian girl of Baloch ethnicity, born to consanguineous parents, who presented at age 11 with progressive proximal muscle weakness, waddling gait, scoliosis, dysphagia, dyspnea, and mild conductive hearing loss. Developmental history revealed delayed walking, recurrent respiratory infections, and echocardiographic evidence of intraventricular septal hypertrophy. Dried Blood Spot (DBS) assay showed markedly reduced GAA activity at pH 3.8 (0.42 nmol/spot/21 h; reference: 1.5–10). Whole-exome sequencing identified a homozygous missense variant c.2015G > A (p.Arg672Gln) in exon 14 of GAA, classified as likely pathogenic by ACMG criteria. Sanger sequencing confirmed segregation. Enzyme replacement therapy with alglucosidase alpha (20 mg/kg biweekly) led to stabilization of disease progression and improvement in motor function over five years. While LOPD usually lacks early cardiac manifestations, our patient exhibited septal hypertrophy and probable cardiomegaly in infancy, suggesting a broader phenotypic range for the p.Arg672Gln mutation. The studied case underlines the importance of considering Pompe disease in patients with unexplained muscle weakness, even when cardiac involvement is present early. Early diagnosis through biochemical and molecular testing, particularly in high-consanguinity regions, allows timely initiation of ERT, potentially improving long-term outcomes in LOPD.

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Cite

BibTeXRIS
BibTeX
@article{mir2026early,
  title = {{Early Cardiac Involvement in Late-Onset Pompe Disease: A Case Report from an Iranian Consanguineous Family}},
  author = {Atefeh Mir and Shadi Khedri and Zahra Abbasi and Ali Khajeh},
  journal = {Iranian Journal of Child Neurology},
  year = {2026},
  month = sep,
  doi = {10.22037/ijcn.v20i4.52739},
  url = {https://doi.org/10.22037/ijcn.v20i4.52739},
  note = {CC BY-NC 4.0},
}
RIS
TY  - JOUR
TI  - Early Cardiac Involvement in Late-Onset Pompe Disease: A Case Report from an Iranian Consanguineous Family
AU  - Atefeh Mir
AU  - Shadi Khedri
AU  - Zahra Abbasi
AU  - Ali Khajeh
PY  - 2026
DA  - 2026/09/01
JO  - Iranian Journal of Child Neurology
DO  - 10.22037/ijcn.v20i4.52739
UR  - https://doi.org/10.22037/ijcn.v20i4.52739
AB  - Pompe disease (glycogen storage disease type II) is a rare autosomal recessive lysosomal storage disorder caused by GAA gene mutations, leading to acid α-glucosidase deficiency and glycogen accumulation in multiple tissues. Late-Onset Pompe Disease (LOPD) typically manifests after infancy without significant cardiac involvement. The present study reports a 16-year-old Iranian girl of Baloch ethnicity, born to consanguineous parents, who presented at age 11 with progressive proximal muscle weakness, waddling gait, scoliosis, dysphagia, dyspnea, and mild conductive hearing loss. Developmental history revealed delayed walking, recurrent respiratory infections, and echocardiographic evidence of intraventricular septal hypertrophy. Dried Blood Spot (DBS) assay showed markedly reduced GAA activity at pH 3.8 (0.42 nmol/spot/21 h; reference: 1.5–10). Whole-exome sequencing identified a homozygous missense variant c.2015G > A (p.Arg672Gln) in exon 14 of GAA, classified as likely pathogenic by ACMG criteria. Sanger sequencing confirmed segregation. Enzyme replacement therapy with alglucosidase alpha (20 mg/kg biweekly) led to stabilization of disease progression and improvement in motor function over five years. While LOPD usually lacks early cardiac manifestations, our patient exhibited septal hypertrophy and probable cardiomegaly in infancy, suggesting a broader phenotypic range for the p.Arg672Gln mutation. The studied case underlines the importance of considering Pompe disease in patients with unexplained muscle weakness, even when cardiac involvement is present early. Early diagnosis through biochemical and molecular testing, particularly in high-consanguinity regions, allows timely initiation of ERT, potentially improving long-term outcomes in LOPD.
SN  - 1735-4668
SN  - 2008-0700
ER  -