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Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
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Acute Coronary Syndrome I: Introduction01:30

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Acute Coronary Syndrome (ACS) encompasses a spectrum of heart conditions caused by sudden obstruction of coronary arteries, typically resulting from the rupture of an atherosclerotic plaque and subsequent thrombus (blood clot) formation. This obstruction can lead to partial or complete blockage of blood flow, causing varying degrees of myocardial ischemia or infarction.ACS includes the following clinical entities:Unstable Angina (UA)Non-ST-Elevation Myocardial Infarction (NSTEMI)ST-Elevation...
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IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document...
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Hunter syndrome with persistent thrombocytopenia.

Inusha Panigrahi1, Manoj Dhanorkar1, Siyaram Didel1

  • 1Department of Pediatrics, APC, PGIMER, Chandigarh, India.

BMJ Case Reports
|April 22, 2019
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Summary

A rare case of Hunter syndrome presented with severe thrombocytopenia. Epstein-Barr virus (EBV) infection was identified as the cause, highlighting EBV as a potential factor in unexplained cytopenia.

Keywords:
MPS IIanaemiableedingchronic EBV infectionplatelets

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Area of Science:

  • Pediatrics
  • Hematology
  • Infectious Diseases

Background:

  • Hunter syndrome (Mucopolysaccharidosis II) typically does not present with cytopenias.
  • Persistent thrombocytopenia and bleeding diathesis are unusual manifestations in MPS II patients.

Observation:

  • A 6½-year-old boy with Hunter syndrome exhibited severe thrombocytopenia and bleeding.
  • Other causes of thrombocytopenia were excluded, leading to consideration of chronic Epstein-Barr virus (EBV) infection.

Findings:

  • The patient was treated with intravenous immunoglobulin and oral prednisolone for refractory thrombocytopenia and intracranial bleed.
  • Positive EBV serology confirmed the infection, with subsequent gradual recovery of platelet counts and no recurrent bleeding.
  • Severe thrombocytopenia is an extremely rare complication of EBV infection, more common in atypical presentations.

Implications:

  • EBV infection should be considered in Asian children presenting with thrombocytopenia, bleeding diathesis, and organomegaly, even with underlying genetic conditions like Hunter syndrome.
  • This case expands the known hematological manifestations of EBV infection.
  • Highlights the importance of considering infectious etiologies in complex pediatric hematological cases.