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

Multiple coagulation defects and the Cohen syndrome

T L Schlichtemeier1, G E Tomlinson, B A Kamen

  • 1Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas 75235-9063.

Clinical Genetics
|April 1, 1994
PubMed
Summary

Cohen syndrome, a rare genetic disorder, is linked to blood clotting issues and stroke in siblings. This case highlights the syndrome

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

Integrity of the pheochromocytoma susceptibility TMEM127 gene in patients with pediatric malignancies.

Endocrine-related cancer·2015
Same author

WTAP is a novel oncogenic protein in acute myeloid leukemia.

Leukemia·2014
Same author

γ-Glutamyl hydrolase modulation and folate influence chemosensitivity of cancer cells to 5-fluorouracil and methotrexate.

British journal of cancer·2013
Same author

Farletuzumab, an anti-folate receptor α antibody, does not block binding of folate or anti-folates to receptor nor does it alter the potency of anti-folates in vitro.

Cancer chemotherapy and pharmacology·2012
Same author

The DRD2 TaqI-B polymorphism and its relationship to smoking abstinence and withdrawal symptoms.

The pharmacogenomics journal·2006
Same author

Familial childhood leukemia cluster with multiple aggressive early-onset hematological malignancies.

Leukemia & lymphoma·2006

Area of Science:

  • Genetics
  • Neurology
  • Hematology

Background:

  • Cohen syndrome is an autosomal recessive disorder characterized by intellectual disability, hypotonia, and distinct facial features.
  • Genetic vasculopathies are conditions affecting blood vessels, often leading to thrombotic events like stroke.

Observation:

  • A 13-year-old male presented with seizures, sagittal sinus thrombosis, cerebral hemorrhage, and extensive lower limb venous thrombosis.
  • He and his sister exhibited dysmorphic features including microcephaly, unusual facies, Marfanoid habitus, and lax connective tissue.
  • Laboratory findings revealed combined deficiencies in protein C, protein S, and antithrombin III.

Findings:

  • The siblings were diagnosed with Cohen syndrome, a condition not previously associated with significant thrombotic events.

Related Experiment Videos

  • The male sibling's severe thrombotic events (sagittal sinus thrombosis, intracranial hemorrhage, deep venous thrombosis) suggest a link between Cohen syndrome and genetic vasculopathies.
  • The combined deficiencies in coagulation factors (protein C, S, antithrombin III) likely predisposed the patient to thrombosis.

    • Implications:

    • This case expands the clinical spectrum of Cohen syndrome to include severe thrombotic complications and genetic vasculopathy.
    • It underscores the importance of considering thrombophilia in patients with Cohen syndrome, especially those presenting with neurological or vascular events.
    • Further research is warranted to elucidate the specific mechanisms linking Cohen syndrome to increased thrombotic risk and vasculopathy.