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Reverse cascade diagnosis of hereditary hyperferritinemia cataract syndrome (HHCS)
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  • Perrine Mahe,
  • Severine Cunat,
  • Muriel Giansily-Blaizot,
  • Gilles Cambonie,
  • Muriel Lalande,
  • Eric Jeziorski,
  • Patricia Aguilar-Martinez
Perrine Mahe
Reference center on red cell and iron disorders, CHU de Montpellier

Corresponding Author:[email protected]

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Severine Cunat
Department of hematology, CHU de Montpellier
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Muriel Giansily-Blaizot
Pôle Hospitalo-universitaire Biologie-Pathologie
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Gilles Cambonie
Department of Neonatal Medicine and Pediatric Intensive, CHU Montpellier, Univ Montpellier
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Muriel Lalande
Department of pediatrics, CHU de Montpellier, Univ Montpellier
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Eric Jeziorski
PCCEI, CeRéMAIA, Univ Montpellier, CHU Montpellier
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Patricia Aguilar-Martinez
Reference center on red cell and iron disorders, CHU de Montpellier
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Abstract

Hereditary hyperferritinemia cataract syndrome is an autosomal dominant disorder characterized by hyperferritinemia without iron overload, and early-onset bilateral cataracts. Diagnosis is unusual in early infancy. We present here the case of an infant girl diagnosed at the age of 9 months whose mother was also diagnosed by family screening. The mother had a cataract which required follow up. It is important to inform pediatricians of this syndrome in order to avoid unsafe treatments, such as phlebotomies, and to set up an ophthalmologic follow-up.