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Congenital erythropoietic porphyria associated with ventricular septal defect

P Kumar1, M Manimegalai, S Amudha

  • 1Department of Dermatology, Stanley Medical College, Chennai-600 001, India.

Indian Journal of Dermatology, Venereology and Leprology
|October 6, 2010
PubMed

Insights

Congenital erythropoietic porphyria, a rare genetic disorder, was diagnosed in a 6-year-old girl. This case highlights the rare co-occurrence of this blood disorder with a ventricular septal defect.

Area of Science:

  • Hematology
  • Genetics
  • Pediatrics

Background:

  • Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder.
  • CEP results from deficient uroporphyrinogen III synthase activity, leading to the accumulation of porphyrins.
  • Cardiac defects are not typically associated with CEP.

Purpose of the Study:

  • To report a rare case of congenital erythropoietic porphyria.
  • To describe the co-occurrence of CEP with a ventricular septal defect (VSD).
  • To contribute to the understanding of potential extra-hematological manifestations in CEP.

Main Methods:

  • Case report of a 6-year-old female patient.
  • Clinical evaluation and diagnostic workup for porphyria and cardiac anomalies.
  • Review of relevant literature.

Main Results:

  • The patient presented with clinical features consistent with congenital erythropoietic porphyria.
  • Diagnostic investigations confirmed the presence of CEP.
  • A concomitant ventricular septal defect was identified in the patient.

Conclusions:

  • This case underscores the importance of comprehensive evaluation in patients with rare genetic disorders.
  • The association of CEP with VSD is unusual and warrants further investigation.
  • This report expands the clinical spectrum of congenital erythropoietic porphyria.

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