Rare Diseases Symptoms Automatic Extraction

Pericardial effusion as a crucial presentation of Erdheim-Chester disease in a hemodialysis patient: an overlooked diagnosis.

[erdheim-chester disease]

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis whose hallmark is tissue infiltration by CD68-positive, CD1a-negative and usually S-100 protein-positive foamy non-Langerhans histiocytes and mononuclear cells. Here, we report a hemodialysis (HD) patient who presented with fever and pericardial effusion. We performed pericardiocentesis with pericardial biopsy and the histological findings indicated ECD. We administered intravenous methylprednisolone pulse therapy (250 mg/d) followed by oral prednisolone (50 mg/d). The patient's fever gradually subsided and there was no recurrence of pericardial effusion. This is the first report of an HD patient with ECD. We suggest that ECD be considered in the differential diagnosis of new HD patients who present with pericardial effusion, especially when this did not improve following increased dose of HD.

Diseases presenting "first report" symptom

  • achondroplasia
  • alexander disease
  • aniridia
  • cadasil
  • canavan disease
  • child syndrome
  • cohen syndrome
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • dentinogenesis imperfecta
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial mediterranean fever
  • focal myositis
  • harlequin ichthyosis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • inclusion body myositis
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • krabbe disease
  • lamellar ichthyosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • pendred syndrome
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • triple a syndrome
  • typhoid
  • waldenström macroglobulinemia
  • werner syndrome
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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