Rare Diseases Symptoms Automatic Extraction

Klinefelter Syndrome with Fabry Disease - a Case of Nondisjunction of the X-chromosome with Sex-linked Recessive Mutation.

[fabry disease]

A 52 year-old male with Klinefelter syndrome presented with chest tightness and rapid atrial fibrillation with hypotension. His echocardiogram demonstrated symmetrical left ventricular hypertrophy with minimal diastolic dysfunction. Subsequent investigations confirmed the diagnosis of Fabry cardiomyopathy. This is the first reported case of Klinefelter syndrome with homozygous sex-linked recessive mutation presenting primarily with cardiac manifestation.

Diseases presenting "first reported case" symptom

  • achondroplasia
  • acute rheumatic fever
  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • aniridia
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • epidermolysis bullosa simplex
  • fabry disease
  • focal myositis
  • harlequin ichthyosis
  • heparin-induced thrombocytopenia
  • kabuki syndrome
  • malignant atrophic papulosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • thoracic outlet syndrome
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • wolf-hirschhorn syndrome

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