Elzbieta Szczygiel - Pilut, Agata Stenwak and Monika Rudzinska- Bar
John Pauls II Hospital, Poland
Posters & Accepted Abstracts: J Neurol Neurophysiol
Statement of the Problem: Neurodegeneration with brain iron accumulation (NBIA) is heterogeneous group of disorders affecting children and adults. NBIA is connected with various related diseases, such as PANK-1, aceruloplasminemia, neuroferritynopathy, early â�� onset PLAN, MPAN. We presented confirmed by genetic study (mutation DNA for C19orf12) upper and lower motor neuron lesion characteristic for MPAN. A case report: 18 year-old man (WP) with progressive since early childhood gait disturbances, speech and learning disorders. Patient from the first pregnancy, supported pharmacologically, born with Apgar 8 score, because of fetal malpresentation. The patientâ��s neurological symptoms included dysarthria, dysphagia, involuntary movements of face (dystonia) and four limbs (dystonia, choreoathetosis), limb muscle hypotonia, gait with knee hyperextension and foot dropping, bilateral Babinski sign, generalized muscle atrophy, pes cavus. Deep tendon reflexes were normal. MRI-neuroimaging using gadolinium contrast showed changes with reduced signal on T2-weighted and FLAIR images within the globus pallidus and midbrain substantia nigra, which suggested pathological brain iron accumulation (see Picture 1. and 2.). Findings: Despite atypical clinical pictures we decided to verify patientâ��s DNA for C19orf12 mutation, which is responsible for MPAN phenotype. The patientâ��s DNA sample was sequenced in Technische Univerisit�¤t in M�¼nchen, Institut F�¼r Humangenetik. The DNA sequence analysis of C19orf12 revealed a homozygous frame shift mutation in exon 3. c. [204_214del]; [204_214del], p. [Gly69Argfs*10]; [Gly69Argfs*10]. Conclusion and Significance: In summary, our patient except of movement disorders had also features of upper and lower motor neuron lesion. Deschauer et. al documented in 2013, three cases of patients with C19orf12 mutations (p.Gly66del, Gly69Argfs*10) mimicking juvenile amyotrophic lateral sclerosis (2). Our case is the next one. Due to the fact, that this is a relatively new disease entity, observation of more patients with documented C19orf12 mutation may allow to complement the MPANâ��s phenotype of new features.
E-mail: eszczygiel@vp.pl
