P79 – 2622: Juvenile-onset mitochondrial protein associated neurodegeneration – Case report

Abstract

Introduction Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of diseases presenting with a progressive extrapyramidal syndrome and excessive iron deposition in the brain. Mutations in the C19orf12 gene were recently (2009) described as cause of NBIA (called mitochondrial membrane protein-associated neurodegeneration, MPAN). Objective We report a Turkish child diagnosed as MPAN with new mutation. Case report A previously healthy 14-year-old girl presented with progressive slowing of speech and movements, and also frequent drop attacks. Her past history and family history were unremarkable. First neurological examination revealed: hypomimia, dysarthria, echolalia, incoordination and propulsive gait. The initial brain magnetic resonance imaging (MRI) on admission was normal. Because of progressive neurologic detonation a repeat brain MRI was done after 3 years, on T2-weighted images showed low signal intensity in the globus pallidus and substantia nigra bilaterally. Because of clinical and radiological suggestion of iron deposition, the molecular analyses was done and revealed a new homozygous mutation in C19orf12 gene: p.A56LFs*6 (c.166delG) allowing the diagnosis of MPAN. In our case, lack of peripheral neuropathy, cognitive decline and neuropsychiatric symptoms and also normal EMG findings are unusual when compared to the typical course of the MPAN. This features may be related age or clinical outcome of new mutation. As presented case, initial brain MRI findings may be normal, if there is clinical suspicion of NBIA repeated brain MRI may be necessary. To the best of our knowledge, this is the first reported Turkish child who was diagnosed as MPAN. Conclusion MPAN should be considered as a differential diagnosis in patients with juvenile onset speech and gait disturbances, dystonia, parkinsonism and pyramidal signs. Patients have to be examined carefully to detect extra-motor symptoms such as neuropsychological abnormalities or optic neuropathy. Brain MRI should be evaluated for signs of iron accumulation.