Reverse cascade diagnosis of hereditary hyperferritinemia cataract
syndrome (HHCS)
- Perrine Mahe,
- Severine Cunat,
- Muriel Giansily-Blaizot,
- Gilles Cambonie,
- Muriel Lalande,
- Eric Jeziorski,
- Patricia Aguilar-Martinez
Severine Cunat
Department of hematology, CHU de Montpellier
Author ProfileMuriel Giansily-Blaizot
Pôle Hospitalo-universitaire Biologie-Pathologie
Author ProfileGilles Cambonie
Department of Neonatal Medicine and Pediatric Intensive, CHU Montpellier, Univ Montpellier
Author ProfileMuriel Lalande
Department of pediatrics, CHU de Montpellier, Univ Montpellier
Author ProfileEric Jeziorski
PCCEI, CeRéMAIA, Univ Montpellier, CHU Montpellier
Author ProfilePatricia Aguilar-Martinez
Reference center on red cell and iron disorders, CHU de Montpellier
Author ProfileAbstract
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.