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

[Infantile neuroaxonal dystrophy].

A Galil1, R Schiffmann, Z Neeman

  • 1Child Development Center, Soroka Medical Center, Beer Sheba.

Harefuah
|November 15, 1992
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

Dimensions of wisdom perception across twelve countries on five continents.

Nature communications·2024
Same author

We care but we're not carers: perceptions and experiences of social prescribing in a UK national community organisation.

Perspectives in public health·2023
Same author

A qualitative exploration of a financial inclusion service in an English foodbank.

Perspectives in public health·2023
Same author

Hepatoprotective effect of combination of L-carnitine and magnesium-hydroxide in nonalcoholic fatty liver disease patients: a double-blinded randomized controlled pilot study.

European review for medical and pharmacological sciences·2022
Same author

What can we Learn from Patients who Died from Covid-19 Following Escalation to a Respiratory High Dependency Unit for Trial of Non-Invasive Respiratory Support?

Journal of palliative care·2022
Same author

1st FSHD European Trial Network workshop:Working towards trial readiness across Europe.

Neuromuscular disorders : NMD·2021
Same journal

[Tennis Elbow Among Players].

Harefuah·2026
Same journal

[Internal Medicine - My Mission].

Harefuah·2026
Same journal

[Treatment of Morbid Obesity in Israel: GLP-1 Agonists Versus Bariatric Surgery - Clinical and Economic Aspects].

Harefuah·2026
Same journal

[Baby steps: Post-operative Treatment Recommendations for Pediatric Tracheostomy in Israel].

Harefuah·2026
Same journal

[Mastoiditis Caused by Fusobacterium Necrophorum: an Unusual Pathogen in a Well-Known Disease].

Harefuah·2026
Same journal

[Cochlear Implantation in Single-Sided Deafness - Six Years of Follow-Up from Diagnosis and Consistent Use, Through Dedicated and Creative Auditory Learning, to the Development of Bilateral Central Processing Abilities].

Harefuah·2026
See all related articles

Infantile neuroaxonal dystrophy (INAD) is a rare neurological disorder. Diagnosis can be challenging, as standard tests may be normal, highlighting the crucial role of tissue biopsies for definitive diagnosis in affected children.

Area of Science:

  • Neurology
  • Pediatrics
  • Pathology

Background:

  • Infantile neuroaxonal dystrophy (INAD) is a progressive neurodegenerative disorder affecting nerve endings.
  • It typically presents in early childhood with motor and cognitive decline.

Observation:

  • A 3-year-old boy presented with nystagmus, muscle weakness, and dementia from 10 months of age.
  • Initial investigations including biochemical work-up, brain MRI, and electrophysiological studies yielded normal results.

Findings:

  • Skin biopsy and subsequent sural nerve biopsy were essential for diagnosing INAD.
  • These tissue biopsies revealed the characteristic pathological findings of the disease.

Implications:

  • This case underscores the diagnostic challenges in INAD when routine investigations are inconclusive.

Related Experiment Videos

  • It emphasizes the critical importance of considering and performing tissue biopsies for accurate diagnosis of INAD.