THE CASE OF A 1-YEAR-OLD GIRL WITH HEREDITARY HYPERFERRITINEMIA CATARACT SYNDROME

Abstract

Hereditary hyperferritinemia cataract syndrome (HHCS) is an autosomal dominant disorder characterized by high serum ferritin levels in the absence of iron overload accompanied by early onset of bilateral cataracts. The authors report the case of HHCS in a 1-year-old girl in a family of German origin. Routine blood examination revealed serum ferritin levels up to 2530 μg/L. Slit-lamp examination showed bilateral cataracts. HHCS should be considered in cases of high serum ferritin level and bilateral cataracts, which can even occur in pediatric patients. A liver biopsy and bone marrow aspiration are unnecessary diagnostic procedures in cases of HHCS and repeated phlebotomies are harmful.

Keywords:

• bilateral cataracts
• hemochromatosis
• HHCS
• ferritin
• iron overload
• transferrin
• transferrin saturation