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Priapism and Fabry disease: a case report.

J García-Consuegra1, M Padrón, E Jaureguizar

  • 1Department of Paediatrics, Hospital Infantil La Paz, Madrid, Spain.

European Journal of Pediatrics
|April 1, 1990
PubMed
Summary

Fabry disease, a rare genetic disorder, can manifest with priapism in young boys. Early diagnosis is crucial, as confirmed by enzyme deficiency, even without other typical symptoms.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Fabry disease is a rare X-linked genetic disorder caused by deficient alpha-galactosidase A activity.
  • It leads to the accumulation of globotriaosylceramide in various tissues, causing multisystemic complications.
  • Clinical manifestations can be highly variable, even within families.

Observation:

  • A 10-year-old boy presented with acute priapism, unresponsive to conservative treatment.
  • He had a 4-year history of intermittent finger and toe pain and low-grade fever.
  • Fabry disease was diagnosed based on low alpha-galactosidase activity, despite the absence of other classic signs.

Findings:

  • The patient's priapism was successfully treated with a saphenocorporeal shunt.
  • Enzyme assays confirmed Fabry disease (deficiency in alpha-galactosidase activity).
  • The condition was also identified in his 14-year-old brother and suspected in his maternal grandfather.

Implications:

  • This case highlights priapism as a potential presenting symptom of Fabry disease in pediatric patients.
  • It underscores the importance of considering Fabry disease in the differential diagnosis of unexplained priapism, even with atypical presentations.
  • Genetic screening and early diagnosis are vital for timely management and preventing severe complications in affected individuals and families.

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