PMID: 8597831May 1, 1995Paper

Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients

Pediatric Pathology & Laboratory Medicine : Journal of the Society for Pediatric Pathology, Affiliated with the International Paediatric Pathology Association
L P HaleS G Kahler

Abstract

We report a case of infantile sialic acid storage disease (ISSD) in a black infant presenting in utero with nonimmune hydrops, ascites, and anemia requiring intrauterine transfusion. Upon birth, the patient had prominent edema, large anterior fontanelle, partial absence of the rectus abdominis, clubbing of the left foot, gingival hypertrophy, short first metatarsals, prominent scrotal raphe, right heart dilatation, and left ventricular dysfunction. Radiographs showed pulmonary hypoplasia and epiphyseal stippling. He died of respiratory failure at day 2. Autopsy demonstrated capillary hemangiomata, remote cerebral hemorrhages, and central nervous system periventricular leukomalacia, as well as severe cardio- and hepatosplenomegaly. Multiple single membrane-limited vacuoles consistent with enlarged lysosomes were present in virtually all cell types examined, with striking involvement of liver, myocardium, and placenta. Vacuolar contents were not identifiable by electron microscopy. Demonstration of elevated free sialic acid in urine, amniotic fluid, and cultured fibroblasts confirmed the diagnosis of ISSD. Characteristics of sialic acid storage diseases and their diagnosis are reviewed. ISSD should be considered in infants with e...Continue Reading

References

Feb 1, 1979·Archives of Neurology·P AulaI Yamashina
Jan 1, 1991·Developmental Neuroscience·G M ManciniP Aula
Apr 1, 1991·The Journal of Clinical Investigation·G M ManciniF W Verheijen
Apr 1, 1990·European Journal of Pediatrics·W SperlE Paschke
Jan 1, 1989·Journal of Inherited Metabolic Disease·B D LakeK Nicolaides
Jul 1, 1988·Pediatric Neurology·S M PueschelE H Kolodny
Jan 1, 1988·Journal of Inherited Metabolic Disease·P R ClementsJ J Hopwood
Feb 1, 1984·The Journal of Pediatrics·J E GillanE Cutz

❮ Previous
Next ❯

Citations

Apr 2, 2009·Pediatrics·Orna Staretz-ChachamEllen Sidransky
Dec 3, 2014·International Journal of Cardiology·Claudia StöllbergerJosef Finsterer
Jun 1, 2001·Nature Biotechnology·K J YaremaC R Bertozzi
Sep 14, 2001·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·L CarbillonM Uzan
Jun 10, 2003·American Journal of Medical Genetics. Part a·Robert KletaWilliam A Gahl
Apr 3, 2009·Clinical Dysmorphology·Ida Vanessa Doederlein SchwartzMichael Beck
Aug 27, 1999·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·G P Jevon, J E Dimmick

❮ Previous
Next ❯

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.