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Título

Excessive smile can be Wilson Disease

RESUMO

CASE PRESENTATION: A 22-year-old male patient with no previous disease with a 6-month history of deep sadness, anhedonia and recurrent crying episodes. Three months ago, he presented with dysarthria, dysphonia and dysphagia, losing 6 kg since then. Neurological examination evidenced an excessive and maintained smile, despite the depressive symptoms, associated with difficulty in opening the mouth, mild instability of gait and bradykinesia predominantly on the left side, without rigidity or tremor. Magnetic resonance evidenced extensive signal alteration spreading through thalamus, pons, putamen, caudate nuclei and a questionably alteration of globus pallidus, in addition to volumetric loss of basal nuclei and cerebellum. Serum ceruloplasmin was 3,6 mg/dL (normal: 20,0 – 60,0 mg/dL) and urine copper was 184,8 (normal: < 80 mcg/dL). Slit-lamp examination revealed Kayser-Fleischer ring and the diagnosis of Wilson Disease was established. DISCUSSION: This report highlights that excessive smile can be the major clue to Wilson Disease (WD) at initial presentation. The association of this sign with depression, bulbar symptoms, bradykinesia and unstable gait in a young patient lead to the hypothesis of WD that was confirmed with laboratorial tests and ophthalmological examination. Abnormal face expression is a common presentation of dystonia in WD, but can vary in its appearance, ranging from classical presentations to more unspecific cases, where a smile can lead to a differential diagnosis with psychiatric diseases or pseudobulbar palsy.The classic manifestations of facial dystonia in WD are “risus sardonicus”, a forced smile due to dystonic spasm of the risorius muscle, and “vacuous smile”, an open-mouth smile due to dystonic dropped jaw. Excessive smiling, elicited to trivial stimuli is also described. Recognize these signs is important, not only for diagnosis, but also because it interferes with eating, speech and increase mortality of the patients, needing correct management. CONCLUSION: Identify the myriad of signs and symptoms of WD is essential, once it is a potentially treatable disorder, especially if early diagnosed. The facial manifestations include “risus sardonicus”, “vacuous smile” or excessive smile. In the context of a young patient and associated with suggestive symptoms, these signs must lead to the appropriate investigation.

Palavras Chave

Wilson Disease. Excessive smile. Risus sardonicus. Vacuous smile.