CEREBELLAR ATAXIA AND SEIZURES IN PATIENT WITH COENZYME Q DEFICIENCY

OBJECTIVE Primary coenzyme Q(10) deficiency represents a clinically heterogeneous condition suggestive of genetic heterogeneity, and several disease genes have been previously identified. These patients presented a similar progressive neurological disorder with cerebellar atrophy and seizures. Cerebellar ataxia is a common symptom of coenzyme Q10 (CoQ10) deficiency associated with COQ8A mutations. METHODS The patient is a boy born at term, parents are cousins. Pregnancy, birth history and developmental milestones were unremarkable. Before neurological manifestation, they had night recurrent vomiting(1-2 times per month) not associated with food intake. He developed his first focal seizure at 9 years. Since that time , he continued to had focal and generalized seizures which were responsive to levetiracetam ,and also had epileptic status . Neurologically, he was noted to have additional symptoms after epileptic status that included left sided spastic hemiparesis, facial left sided palsy, positive oral automatism reflexes, positive pathological reflexes in the left , clonus in both legs and cerebellar symptoms( ataxia-dynamic and static, slurred speech, intention tremor).His cognitive functions were good before epileptic status. Metabolic workup revealed persistently elevated lactate and low levels of pyruvate. Magnetic resonance imaging (MRI) of the brain was normal.EEG shows focal epileptic activity of the occipital lobe. RESULTS Using whole exome sequencing, we identified compound heterozygous variants in the COQ8A gene p.R271L/p. L506W heterozygous mutation was identified. CONCLUSIONS This patient presenting with seizures and cerebellar symptoms (ataxia-dynamic and static, slurred speech, intention tremor) represents rare mitochondrial disease caused by biallelic COQ8A mutations. The response to CoQ10 supplement is good and patient remains stable