Cases of neuroferritinopathy from Sudan

Cases of neuroferritinopathy from Sudan

26 Abstracts / Journal of the Neurological Sciences 405S (2019) 116543 from 2016 to 2019. Other etiologies were excluded with laboratorial and imagi...

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26

Abstracts / Journal of the Neurological Sciences 405S (2019) 116543

from 2016 to 2019. Other etiologies were excluded with laboratorial and imaging studies. We collected informed consent, clinico-epidemiological data and performed a standard NCS/EMG to each patient, the relationship between NCS/EMG parameters and survival was evaluated by Spearman and Pearson correlation in SPSS® version 25 software. Results 10 male, mean age was 57.7 ± 13.1 years. The gap between symptoms onset and diagnosis was 12.8±16 months; cervical was the most common first presentation, 4 patients (26.7%) were diabetics; normal findings on MRI was found in 80%. NCS showed that the most affected nerves were: median (distal latency (DL) averages: 3.85 m/s, Compound muscle action potential (CMAP) amplitudes: 2.97 μV, conduction velocities (CV): 43.3 m/s. Ulnar nerves: DL: 3.32 m/s, CMAP amplitudes: 3.98 μV, CV: 50.37 m/s) (Table 1). F waves latencies were found abnormal in 4/15 patients in median, cubital and peroneal nerves; sensory affection was found in 4/15 patients in peroneal and sural nerves. EMG revealed denervation changes, poor recruitment in all the studied muscles including paraspinals; the muscle unit action potentials (MUAP) parameters showed reinnervation changes (Table 2). We found a bilateral good correlation between tongue MUAP duration (p = 0.047) and months of life.

Abstract Neuroferritnopathy is a bag of diseases due to abnormal iron metabolism. It has different underlying genetic and enzymatic abnormalities. On the other hand they share some radiology features. Patients presents with a wide range of cerebral symptoms and signs. Diagnosis depends on the semiology, genetic testing and MRI imaging. No specific treatment is available for these cases and they represent a challenge to the treating neurologist. Here we illustrate 2 interesting cases with their clinical and imaging findings to raise the awareness of such rare diseases and help diagnosing them in a low resource setting. doi:10.1016/j.jns.2019.10.1595

WCN19-1139 Journal of the Neurological Sciences 405S (2019) 105257 Poster Session 4

Conclusion NCS showed predominantly an axonal damage in the studied nerves. Tongue MUAP's duration was correlated with a shorter survival time (Graph 1).

doi:10.1016/j.jns.2019.10.1594

WCN19-1138 Journal of the Neurological Sciences 405S (2019) 105256 Poster Session 4 Cases of neuroferritinopathy from Sudan M. Elsayeda, O. Eladilab, S. Elsadigc, S. Nooria a University Hospital Sharjah, Neurology, Sharjah, United Arab Emirates b Africa International University, Neurology, Khartoum, Sudan c University of Khartoum, Neurology, Khartoum, Sudan

Creutzfeldt Jakob Disease EEG and clinical findings J. Espinoza Retuerto, J.A. Ortiz Quezada, C. Mendoza Tejeda, B. Estañol Vidal Instituto Nacional de Nutrición Salvador Zubirán, Clinical Neurophysiology- UNAM, Ciudad de Mexico, Mexico Background Creutfeldt Jakobs disease (CJD) it’s a spongiform encephalopathy, the sporadic form is the most common presentation. Objective To describe clinical and paraclinical features of 3 CJD patients. Patients: We analyzed consecutive cases with CJD at the Instituto Nacional de Nutrición Salvador Zubirán at Mexico City, from 2016 to 2018; we obtained informed consent, clinical data and paraclinical studies. Case 1: 38 years old, female, initial symptom was rapidly progressive dementia in September 2016, seven months later she developed ataxia, myoclonus, and visual hallucinations; the