An unusual case of type I hyperlipidemia - infant with acute encephalopathy, bulging fontanel, vomiting and pink blood: a case report
This is a rare case of FCS presenting with neurological symptoms that mimicked the clinical picture of ruptured intracranial epidermoid cyst, which was initially the differential diagnosis of this case. Initial interpretation of imaging studies didn't delay treatment. With the right treatment, the symptoms of the disease could be reversible with satisfactory outcome.
Authors
- Nadja Vukasinovic
- Jasna Kalanj (ORCID: https://orcid.org/0000-0002-8663-9010)
- Mina Cobeljic (ORCID: https://orcid.org/0000-0003-1655-8714)
- Vera Zdravković (ORCID: https://orcid.org/0000-0002-0467-1763)
- Marina Andjelković (ORCID: https://orcid.org/0000-0002-4086-6197)
- Maja Ješić (ORCID: https://orcid.org/0000-0001-5920-249X)
- Snežana Rsovac (ORCID: https://orcid.org/0000-0002-9987-057X)
- Mirjana Cvetković (ORCID: https://orcid.org/0009-0004-7600-2851)
Institutions
- University of Belgrade (RS)
- University Children's Hospital, Belgrade (RS)
- Institute of Molecular Genetics and Genetic Engineering
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2024-12-19
- DOI
- https://doi.org/10.1186/s12887-024-05287-9
- Primary Topic
- Lipid metabolism and disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00