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 s disease - case report]

L D Noronha1, G Sampaio, I Bruck

  • 1Universidade Federal do Paraná (UFPR), Curitiba, PR, Brazil.

Jornal De Pediatria
|December 4, 2003
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

Artificial intelligence entering the pathology arena in oncology: current applications and future perspectives.

Annals of oncology : official journal of the European Society for Medical Oncology·2025
Same author

ESMO expert consensus statements (ECS) on the definition, diagnosis, and management of HER2-low breast cancer.

Annals of oncology : official journal of the European Society for Medical Oncology·2023
Same author

APOBEC mutagenesis, kataegis, chromothripsis in EGFR-mutant osimertinib-resistant lung adenocarcinomas.

Annals of oncology : official journal of the European Society for Medical Oncology·2022
Same author

ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: a report from the ESMO Precision Medicine Working Group.

Annals of oncology : official journal of the European Society for Medical Oncology·2022
Same author

Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing.

Annals of oncology : official journal of the European Society for Medical Oncology·2022
Same author

ESMO recommendations on the standard methods to detect RET fusions and mutations in daily practice and clinical research.

Annals of oncology : official journal of the European Society for Medical Oncology·2021
Same journal

Acetaminophen versus Ibuprofen for the management of hemodynamically significant patent ductus arteriosus in very low birth weight infants: randomized trial.

Jornal de pediatria·2026
Same journal

Cross-cultural adaptation into Brazilian Portuguese of an international questionnaire for the assessment of cardiopulmonary resuscitation knowledge among adolescents.

Jornal de pediatria·2026
Same journal

Evaluation of ChatGPT's reliability in answering questions about short stature and growth failure.

Jornal de pediatria·2026
Same journal

Validity of the Khamis-Roche method, relative to bone age, in Portuguese children and adolescents from 11 to 15 years.

Jornal de pediatria·2026
Same journal

Urogenital congenital anomalies in children under 9 years: global disease burden analysis and projections, 1990-2021.

Jornal de pediatria·2026
Same journal

Intraventricular hemorrhage in preterm newborns: a multicenter study in four Brazilian hospitals.

Jornal de pediatria·2026
See all related articles

This case report details Krabbé disease in an infant, identified through clinical signs and necropsy. The findings highlight severe brain damage and a poor prognosis, consistent with global literature on this rare genetic disorder.

Area of Science:

  • Pediatric Neurology
  • Medical Genetics
  • Pathology

Background:

  • Krabbé disease is a rare, fatal genetic disorder affecting the nervous system.
  • Early diagnosis and understanding of its pathological features are crucial for management and research.

Purpose of the Study:

  • To present a case of Krabbé disease diagnosed via clinical presentation and necropsy.
  • To correlate pathological findings with clinical manifestations.

Main Methods:

  • Review of medical and necropsy records of an infant diagnosed with Krabbé disease.
  • Clinical assessment including neurological examination, EEG, and CSF analysis.
  • Histopathological examination of brain tissue post-mortem.

Main Results:

Related Experiment Videos

  • The patient presented with neurological symptoms including tremors, swallowing difficulties, and spasticity.
  • Physical examination revealed microcephaly and retinal pigmentation.
  • Necropsy confirmed Krabbé disease with globoid cells, gliosis, and demyelination in the white matter.

Conclusions:

  • The case findings align with established literature on Krabbé disease.
  • Substantial brain damage indicates a poor prognosis.
  • Necropsy is vital for confirming diagnosis and understanding disease pathology.