Congenital ascites as a presenting sign of lysosomal storage disease

Gillan, John; Lowden, J. A.; Gaskin, Kerry; Cutz, Ernest

doi:10.1016/s0022-3476(84)80997-x

Cited by 100 publications

(42 citation statements)

References 23 publications

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“…Including our three cases, 27 patients with ISSD have been reported so far [Cameron et al, 1990;Carroll et al, 1986;Clements et al, 1988;Cooper et al, 1988;Gillan et al, 1984;Hale et al, 1995;Lake et al, 1989;Fig. 2.…”

Section: Discussionmentioning

confidence: 84%

Clinical spectrum of infantile free sialic acid storage disease

et al. 1999

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Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free sialic acid within lysosomes. Only a few cases have been described. We report on three new cases of ISSD with different modes of presentation: an infant with nephrotic syndrome, a case of fetal and neonatal ascites with heart failure, and a case of fetal ascites with esophageal atresia type III. From these patients and a review of the literature (27 cases total) we draw the following conclusions. 1) ''Coarse facies,'' fair complexion, hepatosplenomegaly, and severe psychomotor retardation are constant findings in this disorder. 2) Nephrotic syndrome occurred in most cases (four in seven) in which renal evaluation was performed. Therefore, ISSD is an important cause of nephrosis in infants with a storage disorder phenotype. 3) Fetal/neonatal ascites or hydrops was the mode of presentation in 13 (60%) of 21 cases. Thus, ISSD enters in the differential diagnosis of hydrops fetalis with a storage disease phenotype. 4) Cardiomegaly was evident in nine cases. 5) Corneae were always clear, and albinoid fundi were reported in five cases. 6) Dysostosis multiplex was not prominent. 7) Bone marrow aspiration could be negative. 8) Death ensued in early infancy with a mean age of 13.1 months. All reported deaths were caused by respiratory infections. Am. J. Med. Genet. 82:385-391, 1999.

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Section: Discussionmentioning

confidence: 84%

Clinical spectrum of infantile free sialic acid storage disease

et al. 1999

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“…7,12,13 Most of the infants presented in these reports had a positive family history for the disease or a maternal history of unexplained abortions or still births. In contrast to our case, the infants possessed at birth other previously reported characteristic features of their syndromes, and had a rapid degenerative clinical course.…”

Section: Discussionmentioning

confidence: 98%

“…6 Infantile sialidosis, Salla disease, GM 1 gangliosidosis, and Gaucher disease are lysosomal storage diseases that have been reported to present with isolated neonatal ascites. 7 However, we are aware of no cases of MPS VII presenting with isolated ascites in the neonatal period. We recently observed a case of MPS VII that presented to our neonatal intensive care unit with isolated ascites as the dominant clinical feature.…”

Section: Introductionmentioning

confidence: 98%

Mucopolysaccharidosis Type VII Presenting With Isolated Neonatal Ascites

et al. 2003

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“…This has to be done immediately because of the often rapidly deteriorating course of the dis ease with early lethal outcome. Although in-born errors of metabolism are only rare causes of nonimmunc hydrops fetalis (5-10%) [16,17], the correct diagnosis has important im plications for parents and family planning. Given a reliable prenatal diagnosis, families with one affected child are able to have fur ther healthy children, preventing the repeated birth of severely handicapped or lethally ill children has demonstrated in our case.…”

Section: A Se R Eportsmentioning

confidence: 99%

Nonimmune Hydrops fetalis with Galactosialidosis: Consequences for Family Planning

Haverkamp

Jacobs²,

Cantz³

et al. 1996

Fetal Diagn Ther

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At the 28th week of gestation a hydrops fetalis was first detected by ultrasound. At birth a generalized hydrops with Hurler-like craniofacial dysmorphism, hepatosplenomegaly and a moderate dystostosis multiplex was noted. High urinary excretion of oligosaccharides and a severe deficiency of neuraminidase and of β-galactosidase in cultured skin fibroblasts could be found. Thus, a rare early infantile type of galactosialidosis was diagnosed. The patient died at the age of 3 months because of cardiac failure. The consanguineous but otherwise healthy parents received genetic counselling for further pregnancies and have been informed about the possibility of prenatal diagnosis. In view of this possibility, the parents decided to have more children. In the second pregnancy a severe combined enzyme deficiency had been detected and the pregnancy interrupted. In the third pregnancy prenatal diagnosis revealed normal fetal enzyme activities. It resulted in a healthy female child and in the fourth pregnancy reduced but still in the heterozygote level enzyme activities had been found, a healthy boy was born.

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Congenital ascites as a presenting sign of lysosomal storage disease

Cited by 100 publications

References 23 publications

Clinical spectrum of infantile free sialic acid storage disease

Clinical spectrum of infantile free sialic acid storage disease

Mucopolysaccharidosis Type VII Presenting With Isolated Neonatal Ascites

Nonimmune Hydrops fetalis with Galactosialidosis: Consequences for Family Planning

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