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Prognostic assessment and management of a patient with Carmi syndrome. A case report

D Schreiner1, A Uebler1, C Ginghina2

  • 1Department of Neonatology, University Medical Center Mainz, Germany.

International Journal of Surgery Case Reports
|June 28, 2021
PubMed

Insights

Carmi syndrome, a rare condition, presents challenges in treatment decisions. Immunofluorescence microscopy may offer crucial prognostic insights for this severe disease.

Area of Science:

  • Pediatric rare diseases
  • Neonatal critical care
  • Dermatology

Background:

  • Carmi syndrome is a severe genetic disorder characterized by pyloric atresia and junctional epidermolysis bullosa.
  • Current clinical guidelines lack clear recommendations for managing Carmi syndrome, particularly regarding curative interventions versus palliative care.
  • The rarity and severity of Carmi syndrome necessitate improved diagnostic and prognostic tools.

Purpose of the Study:

  • To present a case of Carmi syndrome in a preterm infant.
  • To discuss the challenges in therapeutic decision-making for Carmi syndrome.
  • To evaluate the utility of diagnostic methods in determining prognosis for Carmi syndrome.

Main Methods:

  • Case report of a female preterm infant diagnosed with Carmi syndrome.
  • Surgical intervention for pyloric atresia was performed.
  • Literature review focusing on diagnostic modalities and prognostic indicators for Carmi syndrome.

Main Results:

  • The infant underwent surgical repair of pyloric atresia following diagnosis.
  • Despite surgical intervention, the patient did not show clinical improvement and unfortunately passed away after 35 days.
  • Literature review indicated immunofluorescence microscopy as a key diagnostic examination for prognosis.

Conclusions:

  • Treatment decisions for Carmi syndrome, including surgical repair, require careful consideration.
  • Immunofluorescence microscopy appears to be a critical tool for assessing the prognosis of Carmi syndrome.
  • Further research is needed to establish clear management guidelines for this rare and severe condition.

Keywords:
JEB-PAJunctional epidermolysis bullosaPrognostic factorsPyloric atresia

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