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

Cystinosis of bone.

B Antoci, G Gherlinzoni

    Italian Journal of Orthopaedics and Traumatology
    |April 1, 1975
    PubMed
    Summary

    This rare case highlights bone cystinosis, a condition difficult to diagnose. Ultramicroscopic examination of bone biopsy revealed cystine crystals, confirming cystine thesaurismosis.

    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

    [Does the analysis of DNA in myocytes have meaning?].

    Pathologica·1991
    Same author

    [Quantitative analysis of DNA using flow cytometry and immunocytochemical findings in 16 cases of cardiac myxomas].

    Pathologica·1991
    Same author

    [Atheroembolism: a form of systemic vascular disease].

    Pathologica·1991
    Same author

    [Melanoblastoma of the meninges. Immunohistochemical and ultrastructural study of a case].

    Pathologica·1990
    Same author

    Malignant change in a benign pulmonary hamartoma.

    Thorax·1989
    Same author

    Parietal centripetal and centrifugal thickening neovascularization in the descending anterior coronary artery. Possible relations with the problem of collateral circulation.

    Virchows Archiv. A, Pathological anatomy and histopathology·1989

    Area of Science:

    • Medical Pathology
    • Bone Metabolism
    • Genetic Disorders

    Background:

    • Cystinosis is a rare lysosomal storage disease characterized by cystine crystal accumulation.
    • Bone involvement in cystinosis is typically part of a multi-systemic disease, not an isolated finding.

    Observation:

    • A unique case of bone cystinosis is presented, initially posing diagnostic challenges.
    • Radiographic findings revealed osteoporosis predominantly in the left leg, following trauma.
    • Intracellular cystine crystal accumulation was identified in bone biopsy fragments via ultramicroscopic study.

    Findings:

    • The study diagnosed the condition as cystine thesaurismosis localized exclusively to bone.
    • This represents a potentially novel presentation of cystinosis, distinct from systemic forms.
    • Diagnosis was critically dependent on advanced ultramicroscopic investigation.

    Implications:

    • This case expands the known clinical spectrum of cystinosis.
    • Highlights the importance of considering rare metabolic bone diseases, especially after trauma.
    • Emphasizes the diagnostic utility of ultramicroscopy for identifying intracellular crystal deposition in bone pathology.

    Related Experiment Videos