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

Perinatal-lethal Gaucher disease.

C Mignot1, A Gelot, B Bessières

  • 1Neurologie Pédiatrique, Hôpital Armand Trousseau, Paris, France.

American Journal of Medical Genetics. Part A
|July 3, 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

Clinical presentation and natural history of RAVINE leukoencephalopathy in Reunion Island.

Revue neurologique·2025
Same author

Olfactory implants: international opinion paper on emerging technologies and clinical applications.

Rhinology·2025
Same author

250 cases of "type 2 Gaucher disease": A novel system of clinical categorisation and evidence of genotype: Phenotype correlation.

Molecular genetics and metabolism·2025
Same author

<i>ARID1B</i>-related disorder in 87 adults: Natural history and self-sustainability.

Genetics in medicine open·2024
Same author

Origin of congenital coronary arterio-ventricular fistulae from anomalous epicardial and myocardial development.

Experimental & molecular medicine·2023
Same author

Corrigendum to "Measles Sclerosing Subacute PanEncephalitis (SSPE), an intriguing and ever-present disease: Data, Assumptions and new Perspectives" [Rev. Neurol. 177 (2021) 1059-68].

Revue neurologique·2022
Same journal

How does Léri-Weill Dyschondrosteosis Affect Adults' Health-Related Quality of Life? - A Norwegian Cross-Sectional Study Exploring the Physical and Mental Burden.

American journal of medical genetics. Part A·2026
Same journal

Re-Identification of the Panamanian Guna/Kuna/Cuna OCA2 Founder Association Through Two American-Born Siblings.

American journal of medical genetics. Part A·2026
Same journal

Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease.

American journal of medical genetics. Part A·2026
Same journal

MYH11-Related Hereditary Type 2 Visceral Myopathy in a Large Kindred: Diagnostic Odyssey With Milder Clinical Manifestations.

American journal of medical genetics. Part A·2026
Same journal

Positron Emission Tomography (PET) in Phenylketonuria: A Systematic Review of Brain Metabolism Beyond Phenylalanine.

American journal of medical genetics. Part A·2026
Same journal

Re: "Clinical Insights From a Case of Sifrim-Hitz-Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy".

American journal of medical genetics. Part A·2026
See all related articles

Perinatal-lethal Gaucher disease presents unique fetal symptoms like hydrops fetalis and hepatosplenomegaly. This specific phenotype, distinct from classical Gaucher disease, aids in diagnosing this underrecognized condition.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Gaucher disease is a lysosomal storage disorder due to glucocerebrosidase deficiency.
  • While often visceral, some Gaucher disease patients exhibit neurological signs.
  • Fetal onset Gaucher disease is rare, with limited case descriptions.

Purpose of the Study:

  • To delineate the specific phenotype of perinatal-lethal Gaucher disease.
  • To highlight diagnostic clues for this likely underdiagnosed condition.
  • To differentiate it from classical type 2 Gaucher disease.

Main Methods:

  • Retrospective study of eight original cases with proven Gaucher disease and fetal onset.
  • Analysis of clinical features including hydrops fetalis, hepatosplenomegaly, ichthyosis, arthrogryposis, and facial dysmorphy.

Related Experiment Videos

  • Comparison with 33 previously reported cases.

    • Main Results:

    • Non-immune hydrops fetalis was observed in all but one case.
    • Hepatosplenomegaly, ichthyosis, arthrogryposis, and facial dysmorphy were associated findings.
    • When hydrops was absent, neurological involvement led to death within three months.

    Conclusions:

    • Perinatal-lethal Gaucher disease is a distinct entity with specific clinical signs.
    • Hydrops fetalis, in utero fetal death, and neonatal distress are prominent features.
    • Biochemical confirmation is crucial for diagnosis and genetic counseling.