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[Spondylocostal dysostosis and acute cholangitis in pediatrics emergency room]

Karla Isis Avilés-Martínez1

  • 1Urgencias Pediatría, Hospital Civil Fray Antonio Alcalde, Guadalajara, Jalisco, México.

Boletin Medico Del Hospital Infantil De Mexico
|February 9, 2018
PubMed

Insights

Spondylocostal dysostosis, a rare chest wall malformation, can present with severe complications like acute cholangitis in infants. Early diagnosis and multidisciplinary care are crucial for managing these complex congenital conditions.

Area of Science:

  • Pediatric genetics and developmental biology
  • Congenital malformations
  • Skeletal dysplasias

Context:

  • Spondylocostal dysostosis encompasses a spectrum of chest wall and vertebral malformations.
  • These conditions range from mild deformities to life-threatening presentations.
  • Association with other congenital anomalies like hydrocephalus and myelomeningocele is noted.

Purpose:

  • To report a rare case of spondylocostal dysostosis in an infant.
  • To highlight the co-occurrence of acute cholangitis in a patient with this condition.
  • To emphasize the diagnostic and management challenges.

Summary:

  • A 13-month-old girl with a history of hydrocephalus and myelomeningocele presented with fever, respiratory distress, malnutrition, and acute cholangitis.
  • Clinical and radiological assessments confirmed complex rib and vertebral malformations consistent with spondylocostal dysostosis.
  • The case underscores the intricate nature of these congenital disorders.

Impact:

  • This case emphasizes the need for a high index of suspicion for spondylocostal dysostosis in infants with complex congenital anomalies.
  • It highlights potential complications, such as acute cholangitis, requiring prompt recognition and management.
  • Improved understanding of genetic and molecular underpinnings is vital for better clinical care and prognosis.
Abstract

Keywords:
Acute cholangitisColangitisCostal malformationDefectos del desarrolloDevelopmental defectsDisostosis espondilocostalHidrocefaliaHydrocephalusMalformación costalMielomeningoceleMyelomeningoceleSpondylocostal dysostosis

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