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A Rare Mitochondrial disease; Naxe Gene Mutation

Introduction: Mitochondrial diseases can manifest with various symptoms and signs which may be precipitated by acute stress situations such as nonspecific infection. NAXE gene affects the NAD(P)HX repair system and energy production in the mitochondria. Method: A rare mitochondrial disease, NAXE mutation is presented. Results:Case: 18 months girl with consanguineous parents, developmental delay admitted to the hospital with inability to walk, strabismus, aphasia and change of consciousness which was started 2 days ago.She had an upper respiratory tract infection 1 week ago.At 6 months of age she had seizure like symptoms, all investigations (metabolic/electrophysiologic/neuroimaging) were normal, but valproic acid(VPA) was started 3 months ago. On the physical examination; she was unconscious, but reacts to pain and hypotonic.She had facial weakness, and neck stiffness. She was intubated.All laboratory findings were normal except CSF lactate which was 31,3 mg/dL and CSF pressure was 40 cmH2O.There were cerebellitis, striatal edema and longituidinal myelitis in the neuroimaging.Intravenous ımmunglobulin, pulse steroid and antibiotics were started. We considered mitochondrial disease as differential diagnosis, so VPA was stopped, mitochondrial supplementations(vitamins) were started.Because of the radiological progression plasmaexchange was started.Unfortunately, she was unresponsive to the treatment. On the 19th day she had erythematous bullous skin lesions(Figure1), local/systemic steroid treatment was not succesful.Homozygous mutation in the NAXE gene was identified by whole exome sequencing.She is now tetraparetic, she has tracheostomy tube and in persistent vegetative stage. Conclusion: NAXE gene mutation-related encephalopathy is rare, it should be considered as a differential diagnosis of early onset progressive encephalopathy and longuitidinal myelitis.
Keywords: Naxe mutation, mitochondrial disease, progressive encephalopathy, longituidinal myelitis