Download PDF
J Pediatr Intensive Care 2022; 11(01): 062-066
DOI: 10.1055/s-0040-1714099
Case Report

A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report

Meltem Bor
1   Department of Neonatology, Harran University School of Medicine, Sanliurfa, Turkey
,
Ozkan Ilhan
1   Department of Neonatology, Harran University School of Medicine, Sanliurfa, Turkey
,
Evren Gumus
2   Department of Medical Genetics, Harran University School of Medicine, Sanliurfa, Turkey
,
Solmaz Ozkan
3   Department of General Pediatrics, Kumluca State Hospital, Kumluca, Antalya, Turkey
,
Meryem Karaca
4   Department of Pediatric Metabolism and Nutrition, Harran University School of Medicine, Sanliurfa, Turkey
› Author Affiliations
› Further Information
    Permissions and Reprints

Abstract

Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid α-1,4-glucosidase enzyme (GAA). PD has two forms, namely the infantile-onset and the late-onset form. In untreated cases, infantile-onset form usually leads to cardio-respiratory failure and death in the first year of life. Herein, we report a newborn with infantile-onset PD characterized by muscular hypotonia, respiratory distress, hypertrophic cardiomyopathy, hepatomegaly, elevated serum enzyme levels of aspartate aminotransferase of 117 IU/L (three times the normal value), alanine aminotransferase of 66 IU/L (1.8 times the normal value), lactate dehydrogenase of 558 IU/L (1.2 times the normal value), and creatine kinase >5,000 IU/L (16 times the normal value). Dried blood spot testing was performed and revealed decreased GAA enzymatic activity (0.07 nmol/mL/h, normal 0.93–7.33 nmol/mL/h). GAA gene analysis performed for confirming the diagnosis showed homozygous mutation c.896T >C (p.Leu299Pro). Initiation of enzyme replacement therapy (ERT) (ERT; 20 mg/kg, once every week) at 28 days of age resulted in weaning off from respiratory support within 1 week after treatment, normalization of cardiac abnormalities, and normal neuromotor development in the 16th month of age. Early diagnosis and early treatment with ERT, especially in the neonatal period, is of great importance to improve cardiac function and motor development in infantile-onset PD.

Keywords

enzyme replacement therapy - hypertrophic cardiomyopathy - infantile-onset Pompe disease - newborn


Publication History

Received: 06 April 2020

Accepted: 26 May 2020

Article published online:
15 July 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Pompe JC. Concerning idiopathic hypertrophy of the heart. Ned Tijdschr Geneeskd 1932; 76: 304-311
    PubMedGoogle Scholar
  • 2 van den Hout HM, Hop W, van Diggelen OP. et al. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003; 112 (02) 332-340
    CrossrefPubMedGoogle Scholar
  • 3 Kishnani PS, Steiner RD, Bali D. et al. Pompe disease diagnosis and management guideline. Genet Med 2006; 8 (05) 267-288
    CrossrefPubMedGoogle Scholar
  • 4 Bodamer OA, Scott CR, Giugliani R. Pompe Disease Newborn Screening Working Group. Newborn screening for Pompe disease. Pediatrics 2017; 140 (Suppl. 01) S4-S13
    CrossrefPubMedGoogle Scholar
  • 5 Bay LB, Denzler I, Durand C. et al. Infantile-onset Pompe disease: diagnosis and management. Arch Argent Pediatr 2019; 117 (04) 271-278
    PubMedGoogle Scholar
  • 6 Ngiwsara L, Wattanasirichaigoon D, Tim-Aroon T. et al. Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand. BMC Med Genet 2019; 20 (01) 156
    CrossrefPubMedGoogle Scholar
  • 7 Sawada T, Kido J, Nakamura K. Newborn screening for Pompe disease. Int J Neonatal Screen 2020; 6: 31
    CrossrefPubMedGoogle Scholar
  • 8 Güzeltaş A, Eroğlu AG. Reference values for echocardiographic measurements of healthy newborns. Cardiol Young 2012; 22 (02) 152-157
    CrossrefPubMedGoogle Scholar
  • 9 Hirschhorn R, Reuser AJ. Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet A, Sly WS, Valle D. eds. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2001: 3389-3420
    Google Scholar
  • 10 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. 03) S333-S339
    CrossrefPubMedGoogle Scholar
  • 11 van der Beek NA, van Capelle CI, van der Velden-van Etten KI. et al. Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease. Mol Genet Metab 2011; 104 (1-2): 129-136
    CrossrefPubMedGoogle Scholar
  • 12 Kumar S, Kumar A. Unusual presentation of atypical infantile Pompe disease in the newborn period with left ventricular hypertrophy. J Clin Diagn Res 2017; 11 (05) SD01-SD02
    CrossrefPubMedGoogle Scholar
  • 13 Del Rizzo M, Fanin M, Cerutti A. et al. Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report. J Inherit Metab Dis 2010; 33 (Suppl. 03) S389-S393
    CrossrefPubMedGoogle Scholar
  • 14 Liu Y, Yang Y, Wang B. et al. Infantile Pompe disease: a case report and review of the Chinese literature. Exp Ther Med 2016; 11 (01) 235-238
    CrossrefPubMedGoogle Scholar
  • 15 Martínez M, Romero MG, Guereta LG. et al. Infantile-onset Pompe disease with neonatal debut: a case report and literature review. Medicine (Baltimore) 2017; 96 (51) e9186
    CrossrefPubMedGoogle Scholar
  • 16 Swarr DT, Kaufman B, Fogel MA, Finkel R, Ganesh J. Unusual cardiac “masses” in a newborn with infantile pompe disease. JIMD Rep 2012; 5: 17-20
    CrossrefPubMedGoogle Scholar
  • 17 Oner T, Yagar Keskin G, Ocak S, Kasapbasi Gok T. Significance of echocardiography for early diagnosing the infantile Pompe disease. The Medical Bulletin of Şişli Etfal Hospital 2015; 49: 299-303
    PubMedGoogle Scholar
  • 18 Li B, Krishnan VG, Mort ME. et al. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 2009; 25 (21) 2744-2750
    CrossrefPubMedGoogle Scholar
  • 19 Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 2014; 11 (04) 361-362
    CrossrefPubMedGoogle Scholar
  • 20 Kroos M, Pomponio RJ, van Vliet L. et al; GAA Database Consortium. Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat 2008; 29 (06) E13-E26
    CrossrefPubMedGoogle Scholar
  • 21 Pérez-López J, Selva-O'Callaghan A, Grau-Junyent JM. et al. Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia. Mol Genet Metab 2015; 114 (04) 580-583
    CrossrefPubMedGoogle Scholar
  • 22 Parini R, De Lorenzo P, Dardis A. et al. Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy. Orphanet J Rare Dis 2018; 13 (01) 32
    CrossrefPubMedGoogle Scholar
  • 23 Bergsma AJ, In't Groen SLM, van den Dorpel JJA. et al. A genetic modifier of symptom onset in Pompe disease. EBioMedicine 2019; 43: 553-561
    CrossrefPubMedGoogle Scholar
  • 24 Correia CDC, Fontana PN, de Góes GHB, Zanoteli E. Clinical variability in 2 siblings with late onset Pompe disease. J Clin Neuromuscul Dis 2018; 20 (01) 47-48
    CrossrefPubMedGoogle Scholar
  • 25 van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet 2008; 372 (9646): 1342-1353
    CrossrefPubMedGoogle Scholar
  • 26 Reuter S, Moser C, Baack M. Respiratory distress in the newborn. Pediatr Rev 2014; 35 (10) 417-428 , quiz 429
    CrossrefPubMedGoogle Scholar
  • 27 Peredo DE, Hannibal MC. The floppy infant: evaluation of hypotonia. Pediatr Rev 2009; 30 (09) e66-e76
    CrossrefPubMedGoogle Scholar
  • 28 Demirpence S, Guven B, Mese T, Tavli V. Pompe disease presenting with supraventricular tachycardia in the early neonatal period: case report. Turkiye Klinikleri J Case Rep 2014; 22: 11-14
    PubMedGoogle Scholar
  • 29 Goel A, Nangia S. Meconium aspiration syndrome: challenges and solutions. Res Rep Neonatol 2017; 7: 19-28
    PubMedGoogle Scholar
  • 30 Kronn DF, Day-Salvatore D, Hwu WL. et al; Pompe Disease Newborn Screening Working Group. Management of confirmed newborn-screened patients with Pompe disease across the disease spectrum. Pediatrics 2017; 140 (Suppl. 01) S24-S45
    CrossrefPubMedGoogle Scholar
  • 31 Tarnopolsky M, Katzberg H, Petrof BJ. et al. Pompe disease: diagnosis and management. evidence-based guidelines from a Canadian expert panel. Can J Neurol Sci 2016; 43 (04) 472-485
    CrossrefPubMedGoogle Scholar
  • 32 van Gelder CM, Poelman E, Plug I. et al. Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study. J Inherit Metab Dis 2016; 39 (03) 383-390
    CrossrefPubMedGoogle Scholar
  • 33 Cheon CK. Considerations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease. Clin Exp Pediatr 2020; 63 (01) 14-15
    CrossrefPubMedGoogle Scholar
  • 34 Smith BK, Martin AD, Lawson LA. et al. Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: clinical evidence of respiratory plasticity. Exp Neurol 2017; 287 (Pt 2): 216-224
    CrossrefPubMedGoogle Scholar
  • 35 Yoshida T, Jonouchi T, Osafune K, Takita J, Sakurai H. A Liver Model of infantile-onset Pompe disease using patient-specific induced pluripotent stem cells. Front Cell Dev Biol 2019; 7: 316
    CrossrefPubMedGoogle Scholar
  • 36 Salabarria SM, Nair J, Clement N. et al. Advancements in AAV-mediated gene therapy for Pompe disease. J Neuromuscul Dis 2020; 7 (01) 15-31
    CrossrefPubMedGoogle Scholar
  • 37 Colella P, Mingozzi F. Gene therapy for Pompe disease: the time is now. Hum Gene Ther 2019; 30 (10) 1245-1262
    CrossrefPubMedGoogle Scholar
  • 38 Bellotti AS, Andreoli L, Ronchi D, Bresolin N, Comi GP, Corti S. Molecular approaches for the treatment of Pompe disease. Mol Neurobiol 2020; 57 (02) 1259-1280
    CrossrefPubMedGoogle Scholar