Jul 2026· Journal of Child Neurology· pp.
8830738261467625
· 0 citations· 16 references
Medicine
TL;DR
PED is a clinical feature not previously reported in PEBEL1 cases, and the case expands the phenotypic spectrum of this disorder and highlights that KD may be a treatment option in PEBEL1.
Abstract
Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is a rare neurodegenerative disorder caused by pathogenic variants in NAXE gene. Movement disorders are among the clinical features of PEBEL1; however, no case presenting with paroxysmal exercise-induced dyskinesia (PED) has been reported. We reported the case of a 14-year-old girl who presented with PED episodes. Six months after the onset of episodes, she developed encephalopathy and focal status epilepticus. Exome sequencing analysis identified a homozygous pathogenic variant in NAXE gene, and she was diagnosed with PEBEL1. She was started on mitochondrial cocktail and multiple antiseizure medications; however, no response was observed. With the ketogenic diet (KD), seizure control was achieved and improvement in cognitive functions was observed. PED is a clinical feature not previously reported in PEBEL1 cases, and our case expands the phenotypic spectrum of this disorder. Additionally, our case highlights that KD may be a treatment option in PEBEL1.
This case identifies NCSE as a potential cause of clinical deterioration in AARS2-related leukoencephalopathy and highlights the importance of considering NCSE in patients presenting with subacute neurological deterioration.
This case illustrates a rare and previously undescribed overlap between clinical findings consistent with TS and a complex epileptic phenotype, and expands the clinical spectrum of BBS by documenting the coexistence of its classical manifestations with TS, ASD, refractory epilepsy, and functional dissociative seizures.
Eliane Batista Silva, Cezar Filho dos Santos Liberal, Gabriella Cláudia Figueiredo Melo et al.· Acta neurológica colombiana· 0 citations
This case expands the clinical spectrum associated with RFX3 variants, supporting a potential role in IESS and early neurodevelopmental disruption, and highlights the relevance of including RFX3 in the genetic evaluation of patients with IESS and co-occurring neurodevelopmental disorders.
Graziana Ceraolo, Giulia Spoto, M. Trivisano et al.· International Journal of Mol...· 0 citations
KRS should be considered in adolescents with progressive cognitive decline and juvenile-onset parkinsonism, particularly when routine investigations are non-diagnostic, particularly when routine investigations are non-diagnostic.
Pulendhar Reddy, Shivangi Sinha, S. Arun et al.· International journal for ad...· 0 citations
Hemodial hemispherectomy proved effective in controlling seizures and stabilizing neurological progression in an 8-year-old female patient with a history of delayed neuropsychomotor development who developed drugresistant focal epilepsy.
André Vinícius Soares Barbosa, Arthur Andrade Resende, Clarissa Milbratz de Castro et al.· Revista Médica de Minas Gera...· 0 citations
Mutations in the GRIN gene family, which encode subunits of the NMDA (N-methyl-D-aspartate) receptor, have been increasingly associated with a spectrum of neurodevelopmental disorders. Among them, GRIN2A mutations play a crucial regulatory role in the receptor's function, affecting synaptic transmission and brain p...
A. Bryzik, Dawid Larysz, P. Larysz et al.· Polish Annals of Medicine· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
