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WILSON DISEASE AFTER A TRAUMATIC INJURY: A CASE REPORT

RESUMO

CASE PRESENTATION: A 23-years-old male suffered traumatic injury at 2019, he was beaten until he passed out needing to go to an emergency room and after a month presented a symmetric, progressive and slowly weakness in lower limbs, movement disorders in hands and, posteriorly, dysphagia, dysarthria and loss of trunk control, being restricted to bed after 3 years of the disease onset. Parental consanguinity (1th degree cousins) and similar family history negative. Had abuse of marihuana, cocaine and crack. On physical examination, alert, thin, exophoria (left eye), symmetric reduced lift of soft palate, dysarthria and dysphagia. Symmetric cogwheel hypertonia on upper limbs and spasticity (Ashworth 1) on lower limbs. Force- MRC V. Present axial face reflexes, normal osteotendinous reflexes and bilateral Babinski sign. Exhaustible Achilles Clonus. Apraxic and ataxic gait. Index-nose maneuver with bilateral movement decomposition. Dystonia and myoclonus in hands were presented. Eyes inspection with dark brown halo on irises. Brain MRI revealed supra and infratentorial atrophy, hypersignal foci (T2-weighted sequence) in frontal periventricular white matter, subinsular, claustrum, cerebral peduncles, midbrain tegmentun, pons and middle cerebelar peduncles, diffusion restriction on splenium of corpus collossum and hemoglobin breakdown products on caudate and lentiform nucleus. Laboratory showed reduced ceruloplasmin level (5mg/dL) and elevated 24 hour urinary copper (239.7µg/24h). Liver ultrasound showed steatosis and eye evaluation confirmed Kayser-Fleisher ring. Thus, it was consistent with Wilson's disease (WD) and was started D-penicilamine with good tolerance. DISCUSSION: WD is a autosomal recessive inheritance disease due a mutation on ATP7B gene on cromossome 1, leading to an accumulation of copper in the body, including the central nervous system. Triggers are not usually found, but recently has been described WD onset after traumatic injury. In our opinion, it is difficult to separate the direct effects of trauma from those resulting from neurodegenerative processes, but some degenerative diseases are being initiated after trauma, without a clear explanation. FINAL COMMENTS: The recognition of this relationship between traumatic injury and WD onset is still poorly described. We alert that early diagnostic recognition and treatment for WD, is essential for the best outcome of the patient, even with unlikely triggers and diagnostic confounders.

Palavras Chave

Wilson Disease; Post-Traumatic; Neurology

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