Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome


ENSERT CİHAN C. K., AKAR H. T., Ylldlz Y., SOĞUKPINAR M., ÜTİNE G. E., ÇELİK H. T.

Molecular Syndromology, vol.15, no.1, pp.83-88, 2024 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 1
  • Publication Date: 2024
  • Doi Number: 10.1159/000534380
  • Journal Name: Molecular Syndromology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.83-88
  • Keywords: Apert syndrome, Inborn errors of metabolism, Propionic acidemia
  • Hacettepe University Affiliated: Yes

Abstract

Introduction: Propionic acidemia (PA) is an inborn error of organic acid metabolism inherited in an autosomal recessive manner. The neonatal-onset disease may present with feeding difficulties and vomiting; seizures, coma, and death may occur if untreated. In addition, catabolic processes such as infections and surgical procedures could cause metabolic decompensation, so patients with organic acidemia should be followed closely. Case Presentation: Here, a patient diagnosed with PA and Apert syndrome in the neonatal period and the complications caused by the coexistence of the two entities are mentioned. The difficulties precipitated by the coexistence of Apert syndrome and PA make this case unique. She has had prolonged hospitalizations due to metabolic decompensations after cranioplasty and inguinal hernia repair, both triggered by nosocomial respiratory infections, complicating both the surgical treatment of Apert syndrome and the management of PA. Conclusion: Coexistence of these two serious disorders mandates a more prudent clinical management as Apert syndrome patients undergo several surgical procedures, rendering them susceptible to catabolic decompensations.