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Monday, September 7, 2009

Zellweger Syndrome

a.k.a. Cerebrohepatorenal syndrome

General:

  • Absence of peroxisomes/perioxisome dysfunction
  • See Refsum disease, Neonatal adrenoleukodystrophy
  • Zellweger > Neonatal adrenoleukodystrophy > Refsum disease in severity
  • Failure to thrive

Airway:

  • High arched palate
  • Cleft palate
  • Micrognathia

Respiratory:

  • Apnea,
  • Hypotonia

Cardiovascular:

  • PDA
  • Septal defects
  • Aorta abnl

Gastrointestinal:

  • Hepatomegaly
  • Jaundice
  • Cirrhosis

Endocrine:

  • Impaired adrenocortical function/adrenal atrophy

Neurmuscular:

  • Hypotonia
  • Seizures
  • Poor myelination

Musculoskeletal:

  • Contractures

Other:

  • Impaired renal function

Considerations:

  • Positioning nightmare
  • SBE prophylaxis
  • Perioperative Stress dose steroids

LINKS:

  • Neonatal adrenoleukodystrophy
  • Refsum disease

References:

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