You are here

Article Text

Article menu
Download PDFPDF
Paediatrics
Galactosialidosis presenting as non-immune hydrops
  1. Shivani Bajpai1,
  2. Kausik Mandal2,
  3. Kirti Naranje3 and
  4. Anita Singh3
  1. 1Pediatrics, Career Institute of Medical Sciences and Hospital, Lucknow, Uttar Pradesh, India
  2. 2Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
  3. 3Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
  1. Correspondence to Dr Anita Singh; dranitasinghk{at}gmail.com

Abstract

Hydrops fetalis is an abnormal accumulation of fluid in two or more foetal compartments which is easily detected using prenatal ultrasonography. It can be categorised into immune and non-immune. The non-immune hydrops can result from various aetiologies, including cardiovascular, respiratory, genitourinary infections, chromosomal anomalies and metabolic causes. The metabolic causes, including lysosomal storage disorders (LSD), are increasingly being recognised as the causes of non-immune hydrops. The hydrops fetalis associated with metabolic disorders is usually severe with huge ascites, hepatosplenomegaly, thick skin, renal abnormalities, increased nuchal translucency, renal abnormalities and skeletal deformities. In this report, we describe a case of LSD, that is, galactosialidosis presenting as non-immune hydrops and its diagnosis. In utero diagnosis of the disorder without an index case is challenging. The definitive diagnosis is important for planning and management of future conceptions.

  • Paediatrics
  • Genetic screening / counselling
  • Neonatal intensive care
  • Congenital disorders

https://doi.org/10.1136/bcr-2024-260906

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    View Full Text

    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms and critical revision for important intellectual content: AS, SB, KN and KM. The following authors gave final approval of the manuscript: AS, SB, KN and KM.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.