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Biotin-reversible neurodegenerative disease in infancy
Australian Paediatric Journal
|February 1, 1986
Summary
A rare biotin-responsive regressive brain disease can occur in infants. Early biotin supplementation can reverse severe neurological symptoms and developmental regression, even before metabolic acidosis is evident.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Neurology
Background:
- Inborn errors of metabolism can present with severe neurological symptoms in infancy.
- Early diagnosis and intervention are crucial for managing genetic metabolic disorders.
Observation:
- Two siblings presented with myoclonic jerks and developmental regression starting at 5 months of age.
- The younger sibling exhibited metabolic acidosis with elevated organic acids and neurological deterioration, including hyperventilation and decerebrate posturing.
Findings:
- Treatment with biotin (10 mg daily) led to rapid clinical and biochemical improvement within 36 hours.
- Symptoms such as hyperventilation and abnormal organic acid excretion resolved, and neurological function normalized.
- Despite the biochemical response, fibroblast cultures showed normal enzyme levels for beta-methylcrotonyl-CoA carboxylase, propionyl-CoA carboxylase, and pyruvate carboxylase.
Implications:
- This case highlights a biotin-reversible regressive brain disease that may precede overt metabolic acidosis.
- Clinicians should consider biotin deficiency or dependency in infants with unexplained neurological regression and hyperventilation.
- The findings underscore the importance of prompt clinical assessment and empirical treatment trials in suspected metabolic encephalopathies.