Akademik Veri Yönetim Sistemi
12th European Paediatric Neurology Society Congress 2017: Lyon, Lyon, Fransa, 20 - 24 Haziran 2017, cilt.21, sa.51, ss.51, (Özet Bildiri)
Objective: Mitochondrial neuro-gastrointestinal encephalomyopathy (MNGIE) (OMIM: #603041) is rarely seen autosomal resessive disorder characterized by cachexia, gastrointestinal dysmotility, ptosis, peripheral neuropathy, progressive external ophtalmoplegia and leukoencephalopathy findings on cranial magnetic resonance imaging. The main pathology is mutation of thymidine phosphorilase (TYMP) gene. Methods: We report a 15 year old male suffered from weight loss, persistant vomiting and lack of appetite for 6 years. He hospitalized for gastrointestinal dismotility problems. During the follow up, he had unilateral mild ptosis and external ophtalmoplegia on left eye and left drop foot. On neurological examination, absence of bilateral deep tendon reflexes in lower limbs, pes cavus deformities and general weakness were determined. Serum biochemical parameters and lactate levels were found as normal. Cranial MRI revealed hyperintense areas in bilateral occipital lobes. There was no pathology on spinal MRI. Electromyography reported severe axonal sensory and motor polyneuropathy. His parents did not allow us to perform lumbar puncture for analyze cerebrospinal fluid lactate level. Nonetheless, clinic manifestation led us to confirm MNGIE Syndrome. Results: We identified a novel homozygous sequence change, c.647-1G>A located at the acceptor splice site of intron 5 of TYMP which is responsible for classic clinical symptoms of MNGIE Syndrome. Conclusion: In conclusion, we would like to present clinical manifestation of MNGIE Syndrome and indicate the difficulties of diagnosis due to symptoms developing at different time periods.