Neonatal ascites due to lysosomal storage disease

Radiology
A DanemanB J Reilly

Abstract

The clinical and radiographic features of four newborns with lysosomal storage disease (LSD) in whom the dominant presenting clinical feature was ascites are presented. The diseases included infantile Gaucher disease, GM I gangliosidosis, infantile sialidosis, and Salla disease. Abdominal distention due to ascites and hepatosplenomegaly, and hypoplastic lungs were seen in all four infants. In the infant with Gaucher disease, the ribs and long bones were markedly thinned. Varying degrees of coarsening of the trabecular pattern of the bones and thinning of the cortex, and a lack of modeling were seen in all patients. Metaphyseal irregularity was noted in the patients with sialidosis and Salla disease. These skeletal radiographic findings may alert the radiologist to the cause for ascites in these patients, which is obscure. In all four patients, there was a history of perinatal death due to the same disease in a sibling; ascites was present in three of the siblings. The diagnosis was missed at autopsy in each of these siblings, underlining the lack of awareness of LSD as a cause for neonatal ascites.

Citations

Dec 1, 1992·Prenatal Diagnosis·M BeckA C Sewell
Dec 1, 1984·European Journal of Pediatrics·M BeckJ Gehler
Dec 1, 1986·European Journal of Pediatrics·A Kohlschütter, G Hausdorf
Jul 1, 1988·Pediatric Neurology·S M PueschelE H Kolodny
Jan 1, 1985·Pediatric Pathology·G A Machin
Jun 24, 2004·American Journal of Medical Genetics. Part a·Ursula Felderhoff-MueserJürgen Kopitz
May 1, 1986·American Journal of Medical Genetics·F GreenbergA L Beaudet
Oct 1, 1986·Seminars in Roentgenology·K D Eggli, J P Dorst
Aug 23, 1996·American Journal of Medical Genetics·E ZammarchiA d'Azzo
Jan 31, 2003·Journal of Perinatology : Official Journal of the California Perinatal Association·Matthew Adam SaxonhouseMichael D Weiss

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.