Response to amoxicillin and perampanel in infantile Alexander disease
Boronat, Susana (Institut de Recerca Sant Pau)
Turon Viñas, Eulalia (Institut de Recerca Sant Pau)
Mac Manus, N. (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Díaz-Gómez, Asunción (Institut de Recerca Sant Pau)
Vicente, Mónica (Hospital Universitari Vall d'Hebron)
Ros-Castelló, Victoria (Institut de Recerca Sant Pau)
Sierra-Marcos, Alba (Institut de Recerca Sant Pau)
Universitat Autònoma de Barcelona

Date:	2024
Abstract:	Type I Alexander disease (AxD) presents with paroxysmal neurodegeneration, refractory epilepsy, and encephalopathy in the first years of life and is associated with a poor prognosis. Although there is no treatment, mild symptomatic improvement has been reported in one case of adult Alexander treated with ceftriaxone, given its interaction with the mutant glial fibrillary acid protein (GFAP) responsible for the disease's pathogenesis. We describe a patient presenting with irritability starting at 2 months of age, initially attributed to gastroesophageal reflux. A ventriculoperitoneal shunt was placed at 3 months of age due to hydrocephalus secondary to aqueduct stenosis detected through an MRI scan, but the irritability persisted. At 5 months, a new brain MRI was performed due to irritability worsening, onset of abnormal ocular movements and seizures. In addition genetic testing was performed. AxD was diagnosed due to the mutation c. 716G.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Alexander's disease ; Case report ; Glutamate toxicity ; Perampanel ; β-lactam antibiotics
Published in:	Epilepsia Open, Vol. 9 Núm. 6 (december 2024) , p. 2505-2509, ISSN 2470-9239

DOI: 10.1002/epi4.13077
PMID: 39503736

5 p, 1.6 MB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
Articles > Published articles