The SPATA5 gene encodes a 892 amino-acids long protein that has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Several studies have associated homozygous or compound heterozygous mutations in SPATA5 gene to microcephaly, intellectual disability, seizures and hearing loss. This suggests a role of the SPATA5 gene also in neuronal development. Recently, our group presented results validating the use of blood cells for the assessment of mitochondrial function for diagnosis and follow-up of mitochondrial disease, minimizing the need for invasive procedures such as muscle biopsy. In this study, we were able to diagnose a patient with epileptogenic encephalopathy using next generation sequencing. We found two novel compound heterozygous variants in SPATA5 that are most likely causative. To analyze the impact of SPATA5 mutations on mitochondrial functional studies directly on the patients' mononuclear cells and platelets were undertaken. Oxygen consumption rates in platelets and PBMCs were impaired in the patient when compared to a healthy control. Also, a decrease in mitochondrial mass was observed in the patient monocytes with respect to the control. This suggests a true pathogenic effect of the mutations in mitochondrial function, especially in energy production and possibly biogenesis, leading to the observed phenotype.
Posterior reversible encephalopathy syndrome (PRES) can develop in association with a vast array of conditions including hypertensive encephalopathy and exposure to toxic agents. Clinical manifestations include seizures, headache, focal neurological deficits, visual disturbances and altered mental status and reversible radiological findings such as grey and white matter abnormalities on magnetic resonance imaging. Recurrent PRES in conjunction with periodic lateralized epileptiform discharges on electroencephalogram has been associated with new-onset epilepsy. Here, we report a pediatric case with systemic juvenile idiopathic arthritis with recurrent episodes of PRES and focal occipital epilepsy. The reason for presenting this case is to show an atypical evolution of this disease, rarely described in children.
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