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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