Reverse cascade diagnosis of hereditary hyperferritinemia cataract syndrome (HHCS)

Résumé fourni par la source

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.

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