engleski

An Unusual Cause of Frequent Neurological Symptoms

Objective: Congenital cerebellar ataxia caused by mutation of the COQ8A gene occurs due to disturbances in CoQ10 synthesis, which has a key role in energy production.Disorders of CoQ10 biosynthesis can affect many organ systems.Some patients have cognitive difficulties, muscle weakness, cardiomyopathy and epilepsy.At the age of expected puberty, associated hypergonadotropic hypogonadism is possible. Methods: A boy, aged 4 years and 6 months, was admitted to hospital for clumsiness, ataxia, strabismus, dysarthria and severe headaches.His problems started two years previously after he suffered from chicken pox.The parents did not have the impression that his symptoms had progressed.On physical examination, he had particular difficulty walking on stairs, and his hands shook whilst drawing and writing. Results: His SARA(Scale for the Assessment and Rating of Ataxia)score was 15/40.His cognitive development was normal.The comprehensive workup(haematological, biochemical, metabolic and immunological) was normal, as was genetic analysis for CMT1A duplication/HNPP deletion, SCA1, 2, 3, 6, 7 and Friedreich's ataxia.Electro-physiological tests(ECG, EEG, EMNG, visual and auditory evoked potentials)MRI of the brain with tractography and the spinal cord on a high-resolution device were unremarkable.Clinical exome sequencing showed two pathogenic mutations c.1009G>A (p.Ala337Thr)and c.1028A>C(p.Gln343Pro)in the COQ8A gene.These variants, in the context of the clinical picture, indicated COQ8Ataxia, which can be treated with coenzyme Q10.At the first follow-up after six months of therapy patient showed slight improvement(SARA score 11, 5/40). Conclusions: Rare congenital ataxia, caused by mutations in the COQ8A gene, inherited by autosomal recessive trait affects many organ systems.The authors point out this rare but potentially treatable cause of ataxia, which should be considered in differential diagnosis of neuro-developmental disorders in children.Early diagnosis and treatment can prevent long-term consequences and slow down disease progression.

Ataxia ; Strabismus ; Dysarthria ; CoQ10 synthesis

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