Infantile spasms as the initial symptom of biotinidase deficiency.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 8283357.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Two patients with biotinidase deficiency had diagnoses of infantile spasms made at 1 month of age. Biotinidase deficiency may be seen early in the neonatal period without the characteristic findings such as alopecia and seborrheic dermatitis. This diagnosis should be considered in patients with infantile spasms.
Medical subject headings
- Amidohydrolases
- Spasm