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

Griscelli disease with cerebral involvement.

A Haraldsson1, C M Weemaes, J A Bakkeren

  • 1Department of Paediatrics, University Hospital of Nijmegen, The Netherlands.

European Journal of Pediatrics
|April 1, 1991
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

Telangiectasias: Small lesions referring to serious disorders.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2017
Same author

Cutaneous granulomas in ataxia telangiectasia and other primary immunodeficiencies: reflection of inappropriate immune regulation?

Dermatology (Basel, Switzerland)·2011
Same author

Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

British journal of cancer·2011
Same author

[Dietary fish-oil supplementation increases survival in mice following Klebsiella pneumoniae infection.].

Laeknabladid·2009
Same author

[Burn injuries in children in Iceland between 1982-1995.].

Laeknabladid·2009
Same author

[Hematopoietic stem cell grafts.].

Laeknabladid·2009

Griscelli disease, a rare disorder, presented in a Turkish infant with silver-grey hair, fever, and developmental delays. The patient exhibited pancytopenia and IgG2 deficiency, ultimately succumbing to infection.

Area of Science:

  • Pediatric Hematology
  • Immunology
  • Genetics

Background:

  • Griscelli disease is a rare autosomal recessive disorder characterized by pigmentary dilution and immunodeficiency.
  • It shares features with Chediak-Higashi syndrome but lacks the characteristic giant lysosomal inclusions in leukocytes.

Observation:

  • A 9-month-old Turkish boy presented with silver-grey hair, recurrent fevers, hepatosplenomegaly, hypotonia, and motor retardation.
  • Laboratory findings included pancytopenia, normal immunoglobulin levels except for IgG2 deficiency, and decreased leukocyte stimulation capacity in mixed lymphocyte reactions.
  • Cerebral symptoms, including hemiparesis and convulsions, developed prior to death.

Findings:

  • Hair microscopy and skin biopsy electron microscopy confirmed Griscelli disease.

Related Experiment Videos

  • The absence of leukocyte inclusions distinguished it from Chediak-Higashi syndrome.
  • The patient's presentation included neurological deterioration and a fatal infection.

    • Implications:

    • This case highlights the diagnostic challenges of Griscelli disease, particularly in differentiating it from Chediak-Higashi syndrome based on clinical and laboratory findings.
    • Early diagnosis and potential therapeutic interventions are crucial for managing this severe pediatric condition.
    • The study underscores the importance of genetic and immunological investigations in infants with unexplained hematological and neurological symptoms.