CASE HISTORY – September 2022

Neurodegeneration with brain iron accumulation: a report of three cases

Authors: Alexander Milovidov, Eve Õiglane-Šlik

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Abstract

Neurodegeneration with brain iron accumulation is a group of rare genetic syndromes characterized by a slow progression of various pyramidal and extrapyramidal symptoms, visual problems and cognitive decline. The syndromes may present in both childhood and adulthood. The article describes three cases of paediatric patients with two different syndromes: beta-propeller protein-associated neurodegeneration and mitochondrial membrane protein-associated neurodegeneration. Initial clinical symptoms of two of them led to delayed correct diagnosis due to seemingly benign findings on neurological examination. The following review of literature highlights the clinical, radiological and genetic features of the most prevalent syndromes of neurodegeneration with brain iron accumulation.