Metabolic facial paralysis in an infant

Area of Science:

• Pediatric Otolaryngology
• Metabolic Disorders
• Neurology

Background:

• Facial paralysis in infants can present diagnostic challenges.
• Cystic fibrosis (CF) is a genetic disorder primarily affecting the lungs and digestive system.
• Metabolic derangements in CF can have diverse systemic manifestations.

Observation:

• A 2-month-old infant presented with facial paralysis.
• The initial presentation suggested a middle ear tumor.
• The infant had an underlying diagnosis of cystic fibrosis.

Findings:

• Facial paralysis was attributed to a metabolic consequence of cystic fibrosis.
• Vitamin A imbalance was identified as a contributing factor.
• Pseudotumor cerebri was associated with the condition.

Implications:

• This case highlights a previously undescribed association between cystic fibrosis, vitamin A imbalance, pseudotumor cerebri, and facial paralysis.
• It expands the spectrum of otolaryngologic manifestations of cystic fibrosis.
• Early recognition of metabolic complications is crucial for managing pediatric patients with CF.