A Case Report of Cardiac Ascites in Morquio Syndrome Complicated by Pulmonary Hypertension

Morquio syndrome, or mucopolysaccharidosis type IV (MPS IV), is a rare lysosomal storage disorder characterized by skeletal dysplasia and dysostosis multiplex. While primarily associated with skeletal manifestations, MPS IV can also affect systemic organs. Here, we present a case of a 64-year-old woman with MPS IVC who presented with cardiac ascites. The patient's disease course was characterized by idiopathic pulmonary hypertension to cor pulmonale and subsequent cardiac ascites formation. Utilizing paracentesis with cytology as well as an analysis of the patient's clinical history and disease progression, we provide insights into the interplay between Morquio syndrome and cardiac ascites.

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Publication Details

Journal
Annals of Internal Medicine Clinical Cases
Published
2025-03-01
DOI
https://doi.org/10.7326/aimcc.2024.0579
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
0.00
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article

A Case Report of Cardiac Ascites in Morquio Syndrome Complicated by Pulmonary Hypertension

Gauri Patel, Olakanmi Joseph Deleawe
Annals of Internal Medicine Clinical Cases
Lysosomal Storage Disorders Research
article

A Case Report of Cardiac Ascites in Morquio Syndrome Complicated by Pulmonary Hypertension

Gauri Patel, Olakanmi Joseph Deleawe
article en

Abstract

Morquio syndrome, or mucopolysaccharidosis type IV (MPS IV), is a rare lysosomal storage disorder characterized by skeletal dysplasia and dysostosis multiplex. While primarily associated with skeletal manifestations, MPS IV can also affect systemic organs. Here, we present a case of a 64-year-old woman with MPS IVC who presented with cardiac ascites. The patient's disease course was characterized by idiopathic pulmonary hypertension to cor pulmonale and subsequent cardiac ascites formation. Utilizing paracentesis with cytology as well as an analysis of the patient's clinical history and disease progression, we provide insights into the interplay between Morquio syndrome and cardiac ascites.

Annals of Internal Medicine Clinical CasesVol. 4(3)
Mercy Health System (US), Kansas City University (US)
Good health and well-being
Openalex Percentile: Top 93%
Lysosomal Storage Disorders Research
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