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 Concept Videos

Cerebral Edema ll: Pathophysiology01:22

Cerebral Edema ll: Pathophysiology

Vasogenic edema is a major form of cerebral edema characterized by abnormal accumulation of fluid in the brain’s extracellular space due to disruption of the blood–brain barrier (BBB). The BBB is a specialized structure composed of endothelial cells connected by tight junctions, supported by astrocytic endfeet and a basement membrane. Under normal conditions, it tightly regulates the movement of ions, proteins, and solutes between the bloodstream and brain parenchyma. When this barrier loses...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Cerebral Edema l: Introduction01:19

Cerebral Edema l: Introduction

Cerebral edema is a pathological increase in brain water content that disrupts intracranial pressure regulation and impairs neurological function. Because the cranial vault is rigid, even modest increases in tissue volume can compromise cerebral perfusion, distort neural structures, and initiate secondary injury. Cerebral edema develops through four principal mechanisms: vasogenic, cytotoxic, interstitial, and ionic.Vasogenic EdemaVasogenic edema arises from disruption of the blood–brain...
Increased Intracranial Pressure ll: Pathophysiology01:29

Increased Intracranial Pressure ll: Pathophysiology

Increased intracranial pressure (ICP) refers to a potentially life-threatening rise in pressure inside the skull. This usually happens when there is a major change in the volume of brain tissue, blood, or cerebrospinal fluid (CSF) — the three components inside the skull. According to the Monro-Kellie doctrine, if the volume of one component increases, the volumes of the other components must decrease to maintain normal pressure. If this does not happen, ICP rises.The process often begins with...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Increased Intracranial Pressure l: Introduction01:14

Increased Intracranial Pressure l: Introduction

Intracranial hypertension is a sustained elevation of intracranial pressure (ICP) above 22 mm Hg. In supine adults, normal ICP is ~7–15 mm Hg.The rigid, nonexpandable cranium contains three components—brain tissue, blood, and cerebrospinal fluid (CSF)—that total ~1,700 mL in a typical adult: 1,400 mL brain (~80%), 150 mL blood (~10%), and 150 mL CSF (~10%). According to the Monro–Kellie doctrine, total intracranial volume is effectively fixed. When one component expands, CSF and venous blood...

You might also read

Related Articles

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

Sort by
Same author

Evaluating a novel MR imaging biomarker for retinal hemorrhage.

Pediatric radiology·2025
Same author

Bone Disease Associated With Hereditary Diffuse Leukoencephalopathy With Spheroids.

Pediatric neurology·2020
Same author

Parasagittal vertex clots on head CT in infants with subdural hemorrhage as a predictor for abusive head trauma.

Pediatric radiology·2018
Same author

Cranial Rhabdomyosarcoma Masquerading as Infectious Mastoiditis: Case Report and Literature Review.

Pediatric neurosurgery·2018
Same author

Neuroradiographic findings in 22q11.2 deletion syndrome.

American journal of medical genetics. Part A·2017
Same author

Leukoencephalopathy With 6p25 Deletion.

Pediatric neurology·2016

Related Experiment Video

Updated: Jun 30, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Acquired obstructive hydrocephalus in globoid-cell leukodystrophy.

Galen N Breningstall1, Richard J Patterson

  • 1Department of Pediatric Neurology, Gillette Children's Specialty Healthcare, 200 East University Avenue, St. Paul, MN 55101, USA. gbreningstall@gillettechildrens.com

Pediatric Neurology
|September 23, 2008
PubMed
Summary

This case study documents a rare occurrence of acquired obstructive hydrocephalus in a 21-month-old female diagnosed with globoid cell leukodystrophy. The patient's symptoms and diagnostic findings were analyzed to understand the co-occurrence of these two neurological conditions. The authors highlight the importance of recognizing such rare associations for improved diagnostic approaches. The study does not establish causality but emphasizes the need for further case documentation in this area.

Keywords:
Neurological disordersPediatric neurologyHydrocephalusLeukodystrophy

Frequently Asked Questions

More Related Videos

Neuronavigation and Laparoscopy Guided Ventriculoperitoneal Shunt Insertion for the Treatment of Hydrocephalus
14:59

Neuronavigation and Laparoscopy Guided Ventriculoperitoneal Shunt Insertion for the Treatment of Hydrocephalus

Published on: October 14, 2022

Related Experiment Videos

Last Updated: Jun 30, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Neuronavigation and Laparoscopy Guided Ventriculoperitoneal Shunt Insertion for the Treatment of Hydrocephalus
14:59

Neuronavigation and Laparoscopy Guided Ventriculoperitoneal Shunt Insertion for the Treatment of Hydrocephalus

Published on: October 14, 2022

Area of Science:

  • Neurological disorders
  • Pediatric neurology
  • Hydrocephalus research

Background:

Acquired obstructive hydrocephalus is a rare condition in patients with globoid cell leukodystrophy. Prior research has shown that globoid cell leukodystrophy primarily affects myelin formation in the central nervous system. However, the co-occurrence of hydrocephalus in this context remains poorly understood. No prior work had resolved the mechanisms behind this rare complication. This gap motivated further investigation into the clinical presentation and management of such cases. The rarity of this condition limits the availability of comprehensive data. Understanding the interplay between these two neurological phenomena could improve diagnostic approaches. This paper's contribution lies in documenting a specific case to expand the limited existing literature.

Purpose Of The Study:

The aim of this study is to report a rare case of acquired obstructive hydrocephalus in a patient diagnosed with globoid cell leukodystrophy. The specific problem involves the intersection of two distinct neurological conditions. This case provides a unique opportunity to explore diagnostic challenges in pediatric neurology. The motivation stems from the lack of detailed clinical data on this co-occurrence. Documenting this case may help identify patterns in similar patients. The study seeks to contribute to the growing body of case reports in this niche area. By analyzing this case, clinicians may gain insights into managing complex neurological presentations. The findings could inform future diagnostic protocols for rare pediatric conditions.

Main Methods:

The study involved a clinical case report of a 21-month-old female patient. Diagnostic imaging was used to confirm the presence of hydrocephalus. Genetic testing was conducted to confirm the diagnosis of globoid cell leukodystrophy. Clinical history and neurological assessments were reviewed. The patient's symptoms were evaluated in the context of both conditions. No experimental interventions were performed, as this is a descriptive case study. The authors synthesized clinical findings and diagnostic procedures. The report focuses on the presentation and management of the patient's condition.

Main Results:

The patient exhibited symptoms consistent with both conditions. MRI confirmed the presence of obstructive hydrocephalus. Genetic analysis confirmed globoid cell leukodystrophy. The patient's clinical course was documented in detail. No prior work had described such a specific case in the literature. The findings suggest a possible link between these two neurological conditions. The report highlights the diagnostic challenges in managing such rare cases. This case adds to the limited clinical data on this co-occurrence.

Conclusions:

The authors propose that this case expands the understanding of globoid cell leukodystrophy. The report suggests that acquired hydrocephalus may co-occur with this condition. The findings may inform diagnostic approaches for similar cases. The authors emphasize the need for further case documentation. No prior work had described this specific clinical scenario. The report does not suggest a causal relationship but highlights a rare association. The authors propose that clinicians consider hydrocephalus in patients with this leukodystrophy. This case may guide future diagnostic and management strategies.

The case study documents a rare instance of acquired obstructive hydrocephalus in a patient with globoid cell leukodystrophy.

MRI confirmed hydrocephalus, and genetic testing confirmed globoid cell leukodystrophy.

Acquired obstructive hydrocephalus is uncommon in globoid cell leukodystrophy, making this case unique.

Genetic testing was used to confirm the diagnosis of globoid cell leukodystrophy.

The patient exhibited symptoms consistent with both hydrocephalus and globoid cell leukodystrophy.

The authors suggest that clinicians consider hydrocephalus in patients with globoid cell leukodystrophy.