Childhood Onset Hypoceruloplasminemia Presenting as Early-Onset Cerebellar Ataxia

Abstract

The syndrome of hypoceruloplasminemia is a rare autosomal recessive disorder presenting mainly with neurogegeneration, retinal degeneration, and diabetes mellitus. The syndrome, to the best of our knowledge, is not yet recognized in pediatric age group. We screened cases presenting with unexplained cerebellar ataxia and anemia using serum ceruloplasmin, transferrin saturation, and ferritin as biomarkers for hypoceruloplasminemia. An age and sex matched control group was included. Thirty cases (age range 4–17 years) (18 male and 12 female) have been included. The results showed a statistically significant low serum ceruloplasmin and transferrin saturation (18.9±12.1mg/dl and 10.1±5.1%, respectively), and high serum ferritin (124.7±65.7 ng/ml) compared to control group. Four cases have retinal degeneration. The detection of low serum ceruloplasmin concentration and transferrin saturation with high serum ferritin in patients with unexplained cerebellar ataxia is highly suspicious of hypocerluplasminemia which should be subjected for further molecular study.