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Anaesthetic management in McKusick-Kaufman syndrome

Idil Tekin1, Gulay Ok, Abdulkadir Genc

  • 1Department of Anaesthesiology and Reanimation, Faculty of Medicine, Celal Bayar University, Manisa, Turkey. idiltekin@yahoo.com

Paediatric Anaesthesia
|February 4, 2003
PubMed

Insights

McKusick-Kaufman syndrome (MKS) presents with polydactyly and hydrometrocolpos, potentially causing respiratory distress. This case highlights anesthetic management for a neonate with MKS and severe hydrometrocolpos.

Area of Science:

  • Medical Genetics
  • Pediatric Surgery
  • Anesthesiology

Background:

  • McKusick-Kaufman syndrome (MKS) is a rare genetic disorder characterized by polydactyly and hydrometrocolpos.
  • Hydrometrocolpos can lead to significant abdominal distention and compromise respiratory function in neonates.
  • Early diagnosis and surgical intervention are crucial for managing MKS complications.

Observation:

  • A 45-day-old female neonate presented with abdominal distention, vomiting, diarrhea, cyanosis, tachycardia, and tachypnea.
  • Physical examination revealed vaginal atresia, polydactyly (sixth digit on left foot), and a palpable abdominal mass.
  • Imaging confirmed a large abdominopelvic cystic mass compressing the diaphragm and causing bilateral hydroureteronephrosis.

Findings:

  • The neonate was diagnosed with McKusick-Kaufman syndrome.
  • Anesthetic management focused on securing the airway, monitoring respiratory mechanics, and maintaining hemodynamic stability.
  • Key anesthetic interventions included gastric decompression, preoxygenation, tracheal intubation, continuous airway pressure monitoring, blood gas analysis, and low-concentration volatile agent anesthesia with opioid.

Implications:

  • This case underscores the importance of a multidisciplinary approach in managing neonates with MKS.
  • Appropriate anesthetic strategies are vital to mitigate risks associated with severe hydrometrocolpos and associated congenital anomalies.
  • Effective management can improve outcomes for infants with this rare syndrome.

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