Literature DB >> 23007684

Intractable ascites as a manifestation of Wolman's disease: report of two sibs.

Rachana Kathuria1, Ujjal Poddar, Jayanta Ghosh, Surender Kumar Yachha, V Gnanapriya, Rakesh Pandey, Anupriya Kaur, Subha Phadke, Anshu Srivastava.   

Abstract

Wolman disease (WD) is a rare, inherited, rapidly fatal condition presenting in early infancy. The disease manifests in the first month of life with failure to thrive, vomiting, diarrhea, abdominal distension, hepatosplenomegaly and bilateral adrenal calcification and is nearly always fatal before the age of 1 year. Barring a case report of isolated fetal ascites, there is no report of intractable ascites as the presentation of WD till date. We report two siblings with WD who both had intractable ascites and required therapeutic paracentesis, albumin infusion, and diuretics to control tense ascites. Although rare, WD should be considered in the differential diagnosis of infantile ascites.

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Year:  2012        PMID: 23007684     DOI: 10.1007/s12664-012-0253-6

Source DB:  PubMed          Journal:  Indian J Gastroenterol        ISSN: 0254-8860


  6 in total

1.  Isolated fetal ascites caused by Wolman disease.

Authors:  A Ben-Haroush; Y Yogev; O Levit; M Hod; B Kaplan
Journal:  Ultrasound Obstet Gynecol       Date:  2003-03       Impact factor: 7.299

2.  Prenatal diagnosis of heterozygosis in a pregnancy at risk for Wolman's disease at the 8th week of gestation.

Authors:  G Bona; M R Gallina; G Dolfin; A Iavarone; A Perona; M Zaffaroni
Journal:  Panminerva Med       Date:  1989 Oct-Dec       Impact factor: 5.197

3.  Wolman's disease. A rare lipidosis with adrenal calcification.

Authors:  W C Marshall; B G Ockenden; A S Fosbrooke; J N Cumings
Journal:  Arch Dis Child       Date:  1969-06       Impact factor: 3.791

4.  Deficiency of an acid lipase in Wolman's disease.

Authors:  A D Patrick; B D Lake
Journal:  Nature       Date:  1969-06-14       Impact factor: 49.962

5.  Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease.

Authors:  J Tolar; A Petryk; K Khan; K J Bjoraker; J Jessurun; M Dolan; T Kivisto; L Charnas; E G Shapiro; P J Orchard
Journal:  Bone Marrow Transplant       Date:  2008-09-08       Impact factor: 5.483

6.  Wolman's disease: The King Faisal Specialist Hospital and Research Centre experience.

Authors:  M Al Essa; R Nounou; N Sakati; G Le Quesne; S Joshi; A Archibald; P T Ozand
Journal:  Ann Saudi Med       Date:  1998 Mar-Apr       Impact factor: 1.526

  6 in total
  1 in total

Review 1.  Lysosomal acid lipase deficiency in pediatric patients: a scoping review.

Authors:  Camila da Rosa Witeck; Anne Calbusch Schmitz; Júlia Meller Dias de Oliveira; André Luís Porporatti; Graziela De Luca Canto; Maria Marlene de Souza Pires
Journal:  J Pediatr (Rio J)       Date:  2021-05-06       Impact factor: 2.990

  1 in total

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