Biotinidase deficiency presenting with status epilepticus and cerebellar infarction in an infant: a case report
Biotinidase deficiency should be considered in the differential diagnosis of infantile status epilepticus with structural brain lesions, especially in the context of consanguinity. Genetic screening plays a vital role in early detection and treatment.
Authors
- Surabhi Aryal
- Aarju Khadka
- Vivek Karn (ORCID: https://orcid.org/0000-0001-6080-7277)
- Saraswoti Neupane (ORCID: https://orcid.org/0000-0002-3964-1118)
- Bibek Shrestha (ORCID: https://orcid.org/0009-0000-4260-7677)
- Nisha Regmi
Institutions
- College of Medical Sciences (NP)
- Tribhuvan University Teaching Hospital (NP)
- Kathmandu University (NP)
Publication Details
- Journal
- Annals of Medicine and Surgery
- Published
- 2025-08-14
- DOI
- https://doi.org/10.1097/ms9.0000000000003737
- Primary Topic
- Biotin and Related Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00