Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report
For differential diagnosis of cystic leukoencephalopathy, biallelic pathogenic hydroxymethylbilane synthase gene variants should be considered. Its pathogenesis probably differentiates from acute intermittent porphyria. To date, there is no promising therapeutic approach.
Authors
- Thomas Stauch (ORCID: https://orcid.org/0000-0002-1622-4901)
- Arzu Stoppe
- Gabriel M. Schacht (ORCID: https://orcid.org/0000-0001-6513-5174)
- Martin Häusler
- Anna-Elisabeth Minder
- Eva Lausberg
Institutions
- Triemli Hospital (CH)
- Universitätsklinikum Aachen (DE)
- MVZ Labor Ravensburg (DE)
- RWTH Aachen University (DE)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2026-02-23
- DOI
- https://doi.org/10.1186/s13256-026-05879-2
- Primary Topic
- Porphyrin Metabolism and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00