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Related Experiment Video

Updated: Apr 4, 2026

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Published on: November 20, 2015

Perinatal-lethal Gaucher disease presenting as hydrops fetalis.

Emira BenHamida¹, Imene Ayadi¹, Ines Ouertani²

¹Neonatology Department, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.

The Pan African Medical Journal

|September 2, 2015

Summary

Perinatal-lethal Gaucher disease, a rare Gaucher disease type 2 variant, presents with non-immune hydrops fetalis in newborns. This case highlights the critical diagnosis of Gaucher disease in neonates with hydrops fetalis.

Keywords:

Gaucher disease hydrops lysosomal storage disorder perinatal form

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Murine Fetal Echocardiography

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Published on: February 15, 2013

Area of Science:

Neonatology
Genetics
Rare Diseases

Background:

Gaucher disease is a lysosomal storage disorder.
Perinatal-lethal Gaucher disease is a rare, severe variant of type 2 Gaucher disease.
It manifests in the neonatal period with distinct clinical features.

Observation:

Non-immune hydrops fetalis is the most characteristic sign.
Other less common signs include hepatosplenomegaly, ichthyosis, and arthrogryposis.
This report details a newborn diagnosed with Gaucher disease type 2 presenting with hydrops fetalis.

Findings:

The case confirms the association between hydrops fetalis and perinatal-lethal Gaucher disease.
Early diagnosis is crucial for potential management strategies.
This variant underscores the importance of considering lysosomal storage disorders in neonatal emergencies.

Implications:

Highlights the need for increased awareness of rare genetic disorders in neonates.
Suggests hydrops fetalis as a key indicator for investigating Gaucher disease.
Emphasizes the importance of timely diagnosis for Gaucher disease management.