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Perrine Mahe
Perrine Mahe

Public Documents 1
Reverse cascade diagnosis of hereditary hyperferritinemia cataract syndrome (HHCS)
Perrine Mahe
Severine Cunat

Perrine Mahe

and 6 more

January 31, 2024
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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