Abstract | BACKGROUND: METHODS: Two boys from different families presented with megalencephaly and psychomotor retardation. Brain magnetic resonance imaging findings in both patients were compatible with the diagnosis of MLC. The diagnosis of MLC was confirmed via Sanger analysis of the MLC1 gene. Anakinra was administered to both patients. Volumetric brain studies and psychometric evaluations were performed before and after anakinra treatment. RESULTS: After anakinra therapy, brain volume in both patients decreased significantly and cognitive functions and social interactions improved. No adverse effects were observed during anakinra therapy. CONCLUSIONS:
Anakinra or other IL-1 antagonists can be used to suppress disease activity in patients with MLC; however, the present findings need to be confirmed via additional research.
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Authors | Hafize Emine Sönmez, Merve Savaş, Bülbül Aliyeva, Adnan Deniz, Mesut Güngör, Yonca Anık, Bülent Kara |
Journal | Pediatric neurology
(Pediatr Neurol)
Vol. 144
Pg. 72-77
(07 2023)
ISSN: 1873-5150 [Electronic] United States |
PMID | 37172460
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2023 Elsevier Inc. All rights reserved. |
Chemical References |
- Interleukin 1 Receptor Antagonist Protein
- Membrane Proteins
- Receptors, Interleukin-1
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Topics |
- Humans
- Male
- Brain
(diagnostic imaging, metabolism)
- Cognition
- Interleukin 1 Receptor Antagonist Protein
(pharmacology)
- Megalencephaly
(diagnostic imaging, drug therapy, genetics)
- Membrane Proteins
(genetics)
- Mutation
- Receptors, Interleukin-1
(antagonists & inhibitors)
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