Pierson Syndrome Characterized by Mild Renal Variant: A Case Report


BÜYÜKKARAGÖZ B., BAKKALOĞLU EZGÜ S. A. , ÖZMEN M. C. , EZGÜ F. S.

GAZI MEDICAL JOURNAL, vol.32, no.3, pp.461-463, 2021 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 3
  • Publication Date: 2021
  • Doi Number: 10.12996/gmj.2021.106
  • Journal Name: GAZI MEDICAL JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier
  • Page Numbers: pp.461-463
  • Keywords: Pierson syndrome, child, nephrotic range proteinuria, mild renal variant, CONGENITAL NEPHROSIS, MICROCORIA, MUTATION
  • Gazi University Affiliated: Yes

Abstract

Pierson syndrome is a rare pediatric disease characterized most commonly by congenital nephrotic syndrome and ocular and neurologic abnormalities. On the other hand, it is known that the severity of the clinical spectrum can be variable. Herein, 1.5-year old child with severe ocular findings and proteinuria who was genetically diagnosed as Pierson syndrome is presented. During the follow-up for a duration of 8 years, it is noteworthy that the patient had no renal involvement other than nephrotic range proteinuria. As our case demonstrates the mild renal variant of Pierson syndrome, the presence of this rare type of presentation should always be kept in mind.