Publications by authors named "Libzon S"
Article Synopsis
- Hypomyelinating leukodystrophies are genetic disorders with severe myelin deficiency, resulting in developmental delays, nystagmus, hypotonia, spasticity, and ataxia.
- Variants in the HSP60 chaperonin protein have been linked to various neurological disorders, and recent findings highlight a group of patients with new heterozygous variants related to a unique hypomyelinating disorder.
- Clinical evaluations and genetic assays in a study of three patients showed early symptoms of nystagmus and hypotonia that progressed to spasticity, confirming that defective chaperonin assembly likely contributes to these disorders.
Article Synopsis
- The study aimed to characterize perinatal intracranial hemorrhage (pICH), focusing on differences between cases diagnosed before and after birth and analyzing their causes and clinical patterns.
- Conducted over a decade, the research included 110 pICH cases, revealing that intraventricular hemorrhage (IVH) was most prevalent, particularly in prenatally diagnosed cases, while subpial hemorrhage was exclusively identified postnatally.
- The findings indicated that genetic disorders contributed to nearly a third of pICH cases, highlighting the necessity for next-generation sequencing to better understand genetic factors associated with prenatally diagnosed hemorrhages.
Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies.
Dev Med Child Neurol
September 2024
Aim: To evaluate the role of parental magnetic resonance imaging (MRI) in assessing fetuses with suspected brain anomalies and its use in prenatal counselling.
Method: A retrospective, multicentre chart review was conducted on fetuses who underwent brain MRI because of suspected brain abnormalities between January 2008 and December 2022, with one or both parents who underwent brain MRI (MRI-Trio) as part of prenatal counselling. Clinical and demographic data were collected, including fetal and parental MRI findings, prenatal counselling outcomes, genetic testing results, family and previous pregnancy history, neurological examinations of the born children up to 24 months of age, and autopsy reports of fetuses from terminated pregnancies.
Hydrocephalus is rarely described in Joubert-Boltshauser syndrome (JBTS). The aim of this study was to investigate whether this association is a chance occurrence or potentially signifies a new phenotypic subtype. The databases of Wolfson Medical Center, Sourasky Medical Center, and EB's personal collection were reviewed.
View Article and Find Full Text PDFBackground: Leukodystrophies are monogenic disorders primarily affecting the white matter. We aimed to evaluate the utility of genetic testing and time-to-diagnosis in a retrospective cohort of children with suspected leukodystrophy.
Methods: Medical records of patients who attended the leukodystrophy clinic at the Dana-Dwek Children's Hospital between June 2019 and December 2021 were retrieved.
Background: CACNA1A-related disorders present with persistent progressive and non-progressive cerebellar ataxia and paroxysmal events: epileptic seizures and non-epileptic attacks. These phenotypes overlap and co-exist in the majority of patients.
Objective: To describe phenotypes in infantile onset CACNA1A-related disorder and to explore intra-familial variations and genotype-phenotype correlations.
OPA1 related disorders include: classic autosomal dominant optic atrophy syndrome (ADOA), ADOA plus syndrome and a bi-allelic OPA1 complex neurological disorder. We describe metabolic stroke in a patient with bi-allelic OPA1 mutations. A twelve-year old girl presented with a complex neurological disorder that includes: early onset optic atrophy at one year of age, progressive gait ataxia, dysarthria, tremor and learning impairment.
View Article and Find Full Text PDFA complex motor disorder is a combination of various types of abnormal movements that are associated with impaired quality of life (QOL). Current therapeutic options are limited. We studied the efficacy, safety, and tolerability of medical cannabis in children with complex motor disorder.
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