Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Siblings with development delay, mild spasticity and subcortical cysts: a further leukoencephalopathy?

E Wassmer1, L Barrett, L Barrat

  • 1Neurology Department, Birmingham Children's Hospital, UK.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|October 6, 2001
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series.

Journal of inherited metabolic disease·2025
Same author

Multifaceted roles of CCAR family proteins in the DNA damage response and cancer.

Experimental & molecular medicine·2024
Same author

Removal of Mesoblastic Tumor of the Neck.

Atlanta medical and surgical journal (1884)·2022
Same author

Accumulation of Brain Hypointense Foci on Susceptibility-Weighted Imaging in Childhood Ataxia Telangiectasia.

AJNR. American journal of neuroradiology·2021
Same author

Laboratory and clinical impacts of an overnight laboratory service.

European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology·2020
Same author

Comorbidity in multiple sclerosis: its temporal relationships with disease onset and dose effect on mortality.

European journal of neurology·2019
Same journal

Beyond seizure control after epilepsy surgery in children with Sturge-Weber syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026
Same journal

Peroxisomal disorders - incidences in Sweden.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026
Same journal

Climate change and neurological disorders in childhood: A scoping review.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026
Same journal

The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implications.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026
Same journal

Exploring the variability in spoken language comprehension, speech and functional communication in children with GNAO1-related disorder: a case series.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026
Same journal

Corrigendum to "The unmet need of psychopharmacological intervention for neuropsychiatric and neurodevelopmental comorbidities in Duchenne muscular dystrophy: report of 5 workshops" [Eur. J. Paediatr. Neurol. (2026) 61 84-89].

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026
See all related articles

This study describes a family with mild neurological issues and brain cysts, identified via MRI. These symptoms suggest a potential new variant of vacuolating leukoencephalopathy.

Area of Science:

  • Neuroscience
  • Genetics
  • Radiology

Background:

  • Vacuolating leukoencephalopathy (VLC) is a rare genetic disorder characterized by white matter abnormalities.
  • Understanding the spectrum of VLC is crucial for accurate diagnosis and management of affected individuals.

Observation:

  • A family presented with mild neurological symptoms including microcephaly, learning difficulties, spasticity, and restricted neck/shoulder movement.
  • Cerebral magnetic resonance imaging (MRI) revealed intra-cerebral subcortical cysts in affected family members.

Findings:

  • The observed clinical and radiological features share similarities with previously described cases of vacuolating leukoencephalopathy.
  • The unique presentation suggests the possibility of a novel variant of this leukoencephalopathy.

Related Experiment Videos

Implications:

  • This case expands the phenotypic spectrum of vacuolating leukoencephalopathy.
  • Further research may elucidate the genetic underpinnings and specific pathological mechanisms of this potential new variant.