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

Krabbe disease--a case report.

Priyankur Roy1, S Chidambaranathan, S Ramesh

  • 1Division of Paediatrics, Rajah Muthiah Medical College and Hospital, Annamalai Nagar 608002.

Journal of the Indian Medical Association
|February 28, 2006
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

Assessment of microstructural, physico-mechanical and durability of residue fly ash as a sustainable cementitious material after cenosphere extraction.

Scientific reports·2026
Same author

Surface gas hydrates and seep features in the Krishna Godavari Basin, Bay of Bengal.

Scientific reports·2026
Same author

Transformer-based iris verification with attention-guided segmentation and Siamese learning.

Scientific reports·2026
Same author

Montmorillonite nanoclay as a sustainable adsorbent for removal of Acid Blue 113 dye from textile industrial effluent.

Scientific reports·2026
Same author

Innovative use of textile waste in greenhouse construction: thermal impacts on hydroponic agriculture.

Scientific reports·2026
Same author

Does active case finding detect TB early in programme settings? A national-level study in India.

Public health action·2026
Same journal

Gynandroblastoma: a rare ovarian tumour with an unusual clinical presentation.

Journal of the Indian Medical Association·2015
Same journal

Bilateral hip and knee arthroplasty in ochronotic arthritis.

Journal of the Indian Medical Association·2015
Same journal

Biliary colic with dilated common bile duct: simple "sheepish" problem?

Journal of the Indian Medical Association·2015
Same journal

Proximal femoral focal deficiency revisited: a case report.

Journal of the Indian Medical Association·2015
Same journal

Disseminated intra-abdominal hydatid disease: surgical management.

Journal of the Indian Medical Association·2015
Same journal

Eosinophilic ascitis, an unusual presentation of eosinophilic gastro-enteritis.

Journal of the Indian Medical Association·2015
See all related articles

Krabbe disease, a rare lysosomal storage disorder, results from galactosylceramide beta-galactosidase deficiency. This case highlights a 6-year-old boy with severe neurological decline and distinctive physical features.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Krabbe disease is a rare, fatal lysosomal storage disorder.
  • It stems from deficient activity of galactosylceramide beta-galactosidase.
  • Incidence is approximately 1 in 100,000 live births.

Observation:

  • A 6-year-old male presented with convulsions, regression of milestones after age two, and dysmorphic features.
  • Physical examination revealed anti-Mongoloid eyes, dental anomalies, lax skin with bruising, respiratory distress, and upward gaze.
  • Ophthalmological findings included dilated pupils with sluggish light reaction, and bilateral crepitations were noted.

Findings:

  • The patient exhibited classic signs of Krabbe disease, including developmental regression and neurological deterioration.

Related Experiment Videos

  • Consanguineous parentage was noted, a potential risk factor for rare genetic disorders.
  • The constellation of symptoms points to a severe, late-infantile or early-juvenile presentation.

    • Implications:

    • Early diagnosis and potential for newborn screening are crucial for managing Krabbe disease.
    • Understanding the genetic basis and clinical spectrum aids in prognosis and genetic counseling.
    • Further research into therapeutic interventions is vital for improving outcomes in affected children.