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Carmi syndrome complicated by pharyngo-esophageal perforation

Y K Sarin1, N G Nagdeve

  • 1Department of Pediatric Surgery, Maulana Azad Medical College, New Delhi 110 002, India. yksarin@hotmail.com

Indian Pediatrics
|February 9, 2006
PubMed

Insights

This report details a rare case of congenital pyloric atresia (CPA) and epidermolysis bullosa (EB), known as Carmi syndrome, in a neonate. The infant also experienced pharyngo-esophageal perforation (PEP), a serious complication, with a documented family history of EB.

Area of Science:

  • Medical Genetics
  • Neonatal Surgery
  • Pediatric Gastroenterology

Background:

  • Congenital pyloric atresia (CPA) is a rare gastrointestinal obstruction.
  • Epidermolysis bullosa (EB) is a group of inherited blistering skin disorders.
  • Carmi syndrome is a specific association of CPA and EB.

Observation:

  • A neonate presented with congenital pyloric atresia (CPA).
  • The neonate also exhibited features of epidermolysis bullosa (EB).
  • The case was complicated by pharyngo-esophageal perforation (PEP).

Findings:

  • This case represents a rare co-occurrence of CPA and EB (Carmi syndrome).
  • The presence of pharyngo-esophageal perforation (PEP) adds complexity to this rare condition.
  • A documented family history of EB in previous generations supports the genetic basis.

Implications:

  • Highlights the importance of recognizing rare genetic syndromes in neonates.
  • Suggests potential genetic links between gastrointestinal and dermatological anomalies.
  • Underscores the need for multidisciplinary management in complex neonatal cases.

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