Top

BMC Pediatrics

Published in:

Open Access 01-12-2024 | Pompe Disease | Case Report

Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing

Authors: Yasaman Alizadeh, Hossein Saidi, Vahid Saeedi, Leila Kamalzadeh

Published in: BMC Pediatrics | Issue 1/2024

Abstract

Background

Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues. The unique correlation between genotype and enzyme activity is a key feature. This case highlights an infantile-onset form, emphasizing genetic counseling and prenatal testing importance.

Case Presentation

An 18-week-old infant with respiratory distress, cyanosis, and fever was admitted. Born healthy, her sibling died from Pompe disease. She presented with cardiomegaly, hypotonia, and absent reflexes. Diagnosis was confirmed by significantly reduced GAA activity. Despite treatment initiation, the patient succumbed to cardiac arrest.

Conclusions

The case underscores genetic counseling’s role, offering insights into prenatal testing advancements, antenatal diagnosis through echocardiography, and the significance of early intervention, particularly in infantile-onset Pompe disease.

Synopsis

Genetic risk assessment and prenatal testing are crucial for families with a history of Pompe disease to improve early diagnosis and management outcomes.

Białowąs E, Mazurek M, Aghadi A, Cuber I, Dybała E, Szela K. Pompe disease - what do we currently know about the disease? J Educ Health Sport. 2023;13(4).

Leslie N, Bailey L. Pompe Disease - GeneReviews™ - NCBI Bookshelf. In: GeneReviews® [Internet]. 2017.

Fatehi F, Ashrafi MR, Babaee M, Ansari B, Beiraghi Toosi M, Boostani R et al. Recommendations for infantile-onset and late-onset pompe disease: an Iranian Consensus. 12, Frontiers in Neurology. 2021.

Hakim Shooshtari M, Shariati B, Kamalzadeh L, Naserbakht M, Tayefi B, Taban M. The prevalence of attention deficit hyperactivity disorder in Iran: An updated systematic review TT -. MJIRI [Internet]. 2021;35(1):60–71. Available from: http://mjiri.iums.ac.ir/article-1-6032-en.html

Cabello JF, Marsden D. Pompe disease: clinical perspectives. Volume 7. Orphan Drugs: Research and Reviews; 2017.

Peruzzo P, Pavan E, Dardis A. Molecular genetics of pompe disease: a comprehensive overview. Ann Transl Med. 2019;7(13).

Lim JA, Li L, Raben N. Pompe disease: from pathophysiology to therapy and back again. 6, Frontiers in Aging Neuroscience. 2014.

Atherton AM, Day-Salvatore D. The role of genetic counseling in pompe disease after patients are identified through newborn screening. Pediatrics. 2017;140.

Neshan M, Malakouti SK, Kamalzadeh L, Makvand M, Campbell A, Ahangari G. Alterations in T-Cell transcription factors and cytokine gene expression in late-onset Alzheimer’s Disease. J Alzheimer’s Disease. 2022;85(2).

10.

McCarthy Veach P, LeRoy BS, Callanan NP. Facilitating the Genetic Counseling Process. Facilitating the Genetic Counseling Process. 2018.

11.

Kronn D, Mofidi S, Braverman N, Harris K. Diagnostic guidelines for newborns who screen positive in newborn screening. Genet Sci. 2010;12(12 SUPPL).

12.

Hamdan MA, El-Zoabi BA, Begam MA, Mirghani HM, Almalik MH. Antenatal diagnosis of pompe disease by fetal echocardiography: Impact on outcome after early initiation of enzyme replacement therapy. J Inherit Metab Dis. 2010;33(SUPPL. 3).

13.

Hamdan MA. Cardiac aspects in infants with pompe disease: antenatal diagnosis by fetal echocardiography improves outcome. Clin Ther. 2010;32.

14.

Zhang YF, Zeng XL, Zhao EF, Lu HW. Diagnostic value of fetal echocardiography for congenital heart disease. Vol. 94, Medicine (United States). 2015.

15.

Xi H, Li X, Ma L, Yin X, Yang P, Zhang L. Infantile pompe disease with intrauterine onset: a case report and literature review. Ital J Pediatr. 2022;48(1).

16.

Sawada T, Kido J, Nakamura K. Newborn screening for pompe disease. 6, Int J Neonatal Screen. 2020.

17.

Kho M, Gonsalves Z, Duffy L, Kronn D. P687: state of play: the current landscape of newborn screening for pompe disease in the United States. Genet Med Open. 2023;1(1).

18.

World Medical Association. World medical association declaration of Helsinki: ethical principles for medical research involving human subjects. JAMA [Internet]. 2013;310(20):2191–4. https://doi.org/10.1001/jama.2013.281053

Title: Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing
Authors: Yasaman Alizadeh
Hossein Saidi
Vahid Saeedi
Leila Kamalzadeh
Publication date: 01-12-2024
Publisher: BioMed Central
Keywords: Pompe Disease
Neonatal Screening
Echocardiography
Echocardiography
Cyanosis
Cyanosis
Published in: BMC Pediatrics / Issue 1/2024
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-024-04690-6

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing

Abstract

Background

Case Presentation

Conclusions

Synopsis

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case Presentation

Conclusions

Synopsis

Please log in to get access to this content

Other articles of this Issue 1/2024

Associations between sleep problems and emotional/behavioural difficulties in healthy children and adolescents

The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study)

The effect of exercise on sleep habits of children with type 1 diabetic: a randomized clinical trial

Early sleep intervention for improving infant sleep quality: a randomized controlled trial, preliminary result

Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study

Continuous versus intermittent bolus infusion of calcium in preterm infants receiving total parenteral nutrition: a randomized blind clinical trial