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Título

COENZYME Q10 DEFICIENCY LEUKOENCEPHALOPATHY – CASE REPORT

RESUMO

Presentation: Female patient, 42 years old, history of gait incoordination for 03 years and progressive worsening, in addition to nocturnal enuresis and clonus in the lower limbs, requiring support to walk. There were no reports of vertigo, diplopia, changes in motricity or sensitivity. Personal history: Depressive disorder for 10 years; Bilateral cataract; Consanguinity between parents; sibling with psychiatric disorder, bradykinesia, bradypsychism and ataxia. On examination: alert, oriented, mild dysarthria and bradypsychism; isochoric and photoreactive pupils, with bilateral central opacification; decreased speed of ocular saccades; hypopalesthesia to iliac crests bilaterally; muscle strength preserved with global bradykinesia; global hyperreflexia, Hoffman and Trommer present bilaterally; inexhaustible bilateral achilleus clonus; broad-based and bouncing gait; positive romberg. Mini-mental with a score within the expected level of education (29/30). Cranial MRI with bilateral and symmetrical signal alteration of the supratentorial white matter, with periventricular predominance, with intermingled cystic formations, compatible with leukoencephalopathy; it also has T2/FLAIR hypersignal in the caudate nucleus and putamen bilaterally. Discussion: The association of the progressive clinical findings of ataxia and extrapyramidal manifestations with the aspects evidenced in the magnetic resonance suggests a neurodegenerative picture with predominant involvement of the white matter. The history of consanguinity between the parents, in addition to a similar evolutionary picture in the sibling, point to a genetic etiology. During hospitalization, a genetic panel for leukoencephalopathies was performed on the patient, which showed probably pathogenic homozygosity in the COQ8A gene and an increase in copies (03) of the EIF2B1 gene, with uncertain significance. Final comments: The COQ8A gene plays a key role in the biosynthesis of coenzyme Q10, which acts as an electron carrier in the mitochondrial respiratory chain for increased ATP production and also acts as an antioxidant and membrane stabilizer. The phenotypic characteristics reported in a study with patients with a biallelic alteration in the COQ8A gene include cerebellar ataxia (100% of cases), movement disorders, cognitive impairment, epilepsy and neuropsychiatric symptoms (depression, anxiety, psychosis or impulsive-aggressive behavior). The main therapeutic approach has been coenzyme Q10 supplementation.

Palavras Chave

Leucoencefalopatia

Área

Doença Cerebrovascular