Abstract | BACKGROUND: METHODS: Ten patients with Sturge-Weber syndrome brain involvement and cognitive impairments were enrolled. Oral sirolimus was taken for six months (maximum dose: 2 mg/day, target trough level: 4-6 ng/mL). Neuropsychological testing, electroencephalography, and port-wine score were performed at baseline and after six months on sirolimus. Neuroquality of life, adverse events, and Sturge-Weber Syndrome Neurological Score (neuroscore) were recorded at each visit. RESULTS:
Sirolimus was generally well tolerated; one subject withdrew early. Adverse events considered related to sirolimus were mostly (15/16) grade 1. A significant increase in processing speed was seen in the overall group (P = 0.031); five of nine patients with available data demonstrated statistically rare improvement in processing speed. Improvements were seen in the neuroquality of life subscales measuring anger (P = 0.011), cognitive function (P = 0.015), and depression (P = 0.046). Three subjects experiencing SLEs before and during the study reported shortened recovery times while on sirolimus. CONCLUSIONS:
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Authors | Alison J Sebold, Alyssa M Day, Joshua Ewen, Jack Adamek, Anna Byars, Bernard Cohen, Eric H Kossoff, Tomoyuki Mizuno, Matthew Ryan, Jacqueline Sievers, Lindsay Smegal, Stacy J Suskauer, Cameron Thomas, Alexander Vinks, T Andrew Zabel, Adrienne M Hammill, Anne M Comi |
Journal | Pediatric neurology
(Pediatr Neurol)
Vol. 115
Pg. 29-40
(02 2021)
ISSN: 1873-5150 [Electronic] United States |
PMID | 33316689
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2020 Elsevier Inc. All rights reserved. |
Chemical References |
- Protein Kinase Inhibitors
- Sirolimus
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Topics |
- Adolescent
- Adult
- Child
- Child, Preschool
- Cognitive Dysfunction
(diagnosis, drug therapy, etiology)
- Electroencephalography
- Female
- Humans
- Male
- Protein Kinase Inhibitors
(administration & dosage, adverse effects, pharmacology)
- Sirolimus
(administration & dosage, adverse effects, pharmacology)
- Sturge-Weber Syndrome
(complications, drug therapy)
- Young Adult
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