Sepiapterin reductase deficiency: A treatable mimic of cerebral palsy
- Friedman, Jennifer
- Roze, Emmanuel
- Abdenur, Jose E
- Chang, Richard
- Gasperini, Serena
- Saletti, Veronica
- Wali, Gurusidheshwar M
- Eiroa, Hernan
- Neville, Brian
- Felice, Alex
- Parascandalo, Ray
- Zafeiriou, Dimitrios I
- Arrabal-Fernandez, Luisa
- Dill, Patricia
- Eichler, Florian S
- Echenne, Bernard
- Gutierrez-Solana, Luis G
- Hoffmann, Georg F
- Hyland, Keith
- Kusmierska, Katarzyna
- Tijssen, Marina A J
- Lutz, Thomas
- Mazzuca, Michel
- Penzien, Johann
- Poll-The, Bwee Tien
- Sykut-Cegielska, Jolanta
- Szymanska, Krystyna
- Thöny, Beat
- Blau, Nenad
Publication date
January 2012
DOI Publisher
Wiley ISSN
0364-5134 Citation count (estimate)
68Abstract
Common, clinical findings of SRD, aside from oculogyric crises and diurnal fluctuation, are nonspecific and mimic CP with hypotonia or dystonia. Patients usually improve dramatically with treatment. Consequently, we recommend consideration of SRD not only in patients with levodopa-responsive motor disorders, but also in patients with developmental delays with axial hypotonia, and patients with unexplained or atypical presumed CP. Biochemical investigation of cerebrospinal fluid is the preferred method of initial investigation. Early diagnosis and treatment are recommended to prevent ongoing brain dysfunction. ANN NEUROL 2012
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