Degeneración hepatocerebral adquirida reporte de caso y revisión de la literatura / Acquired hepatocerebral degeneration. case report and literature review

Acquired hepatocerebral degeneration also termed acquired hepatolenticular degeneration, cirrhosis-related Parkinsonism o pseudo-Wilson is a rare, progressive and chronic neurological syndrome that occurs in patients with chronic liver disease, particularly in those with surgically or spontaneously induced portosystemic shunts. The clinical features of this pathological entity include extrapyramidal signs, ataxia, cognitive decline and neuropsychiatric changes, such as delirium, apathy, lethargy and emotional instability. Brain Magnetic Resonance Imaging classically shows symmetrical T1-weighted hyperintensities in the globus pallidus, substantia nigra and periaqueductal gray matter. Although its pathogenesis is not completely elucidated, it is postulated that the excess manganese accumulation and deposition in the basal ganglia, leading to dysfunctional dopaminergic system in this anatomical location, would have a key role in triggering the disease. Orthotopic liver transplantation is the mainstay of treatment and is considered effective by reducing motor and cognitive alterations. Other therapeutic alternatives that have reported symptomatic improvement are the use of bromocriptine or levodopa and portosystemic shunts occlusion. In this article, we report a case of a 63-year-old woman with clinical manifestations over the course of one year, characterized by cognitive decline, chorea, gait and language disturbances. She was examined with plasma levels of copper and ceruloplasmin, which excluded the possibility of Wilson´s Disease, its main differential diagnosis. Neuroimaging revealed T1-weighted hyperintensity in the pallidum, confirming suspected diagnosis of acquired hepatocerebral degeneration.

Wilson's disease in southern Brazil: a 40-year follow-up study

BACKGROUND: Long-term data on the clinical follow-up and the treatment effectiveness of Wilson's disease are limited because of the low disease frequency. This study evaluated a retrospective cohort of Wilson's disease patients from southern Brazil during a 40-year follow-up period. METHODS: Thirty-six Wilson's disease patients, diagnosed from 1971 to 2010, were retrospectively evaluated according to their clinical presentation, epidemiological and social features, response to therapy and outcome. RESULTS: Examining the patients' continental origins showed that 74.5 percent had a European ancestor. The mean age at the initial symptom presentation was 23.3 ± 9.3 years, with a delay of 27.5 ± 41.9 months until definitive diagnosis. At presentation, hepatic symptoms were predominant (38.9 percent), followed by mixed symptoms (hepatic and neuropsychiatric) (30.6 percent) and neuropsychiatric symptoms (25 percent). Kayser-Fleischer rings were identified in 55.6 percent of patients, with a higher frequency among those patients with neuropsychiatric symptoms (77.8 percent). Eighteen patients developed neuropsychiatric features, most commonly cerebellar syndrome. Neuroradiological imaging abnormalities were observed in 72.2 percent of these patients. Chronic liver disease was detected in 68 percent of the patients with hepatic symptoms. 94.2 percent of all the patients were treated with D-penicillamine for a mean time of 129.9 ± 108.3 months. Other treatments included zinc salts, combined therapy and liver transplantation. After initiating therapy, 78.8 percent of the patients had a stable or improved outcome, and the overall survival rate was 90.1 percent. CONCLUSION: This study is the first retrospective description of a population of Wilson's disease patients of mainly European continental origin who live in southern Brazil. Wilson's disease is treatable if correctly diagnosed, and an adequate quality of life can be achieved, resulting in a long overall survival.

Doença de Wilson (degeneração hepatolenticular): revisão bibliográfica e relato de caso / Wilson’s disease (hepatolenticular degeneration): revision and case report

Este estudo faz, inicialmente, revisão dos aspectos mais atuais referentes a conceito, quadro clínico, diagnóstico e tratamento do distúrbio metabólico do cobre, definido como doença de Wilson. E relata o caso clínico de um jovem acometido de uma sequência de sintomas superpostos de origem gastrintestinal, neurológico e psiquiátrico. Pela multiplicidade e gravidade dos sintomas, teve o diagnóstico final de transtorno psicótico agudo polimórfico, com intensa inibição psicomotora. A partir de uma análise integrada dos exames já solicitados, suspeitou-se de um distúrbio metabólico de origem hereditária ou adquirida que justificasse simultaneamente os sintomas. O distúrbio da excreção do cobre, doença de Wilson, veio justificar toda a sintomatologia referida e foi confirmado a partir da dosagem sanguínea baixa de ceruloplasmina e da presença dos anéis de Kaiser-Fleischer na córnea do paciente.

It will be initially revised by the authors the most actual aspects of the concept, clinical situation, diagnosis and treatment concerning to a metabolic disturbance of the copper, Wilson?s disease. Afterwards it will be described the clinical case of a young man attacked of a sequence of superposed symptoms of gastrintestinal, neurological and psychiatric origin. For the multiplicity and gravity of the symptoms acute polimórfico with intense psicomotora inhibition had the final diagnosis of "psychotic Upheaval". Starting from an integrated analysis of the exams, it was suspected about a metabolic disturbance of hereditary or acquired origin that justify all the symptoms simultaneously. The disturbance of the excretion of copper, Wilson's disease, came to justify all the referred symptomatology and it was confirmed by the decrease sanguine dosage of ceruloplasmin, the presence of rings of Kayser-Fleischer in the córnea of the patient and of neurological lesion at the magnetic nuclear ressonance. The diagnosis of Wilson's disease in patients with simultaneous digestive (hepática cirrhosis), neurological and inexplicable psychiatric disturbances will always have to be faneed because the precocious treatment will mainly prevent serious and permanent organic damages for the liver and brain. The specific treatment was initiated and the maintenance of exactly has provoked significant improvements and a gradual new outbreak of the symptoms reintegrating the patient the family and the society.

Enfermedad de Wilson fulminante en Costa Rica: Estudio clinico patologico de 7 casos / Fulminant Wilson's disease in Costa Rica: pathological clinical study of 7 cases

En los últimos 18 añno (entre 1972-1989), alrededor de 150 casos de enfermedad de Wilson se han diagnosticado en Costa Rica (6/100.000 habitantes). En el Hospital San Juan de Dios se han estudiado alrededor de 120 casos durante este período, de los cuales 7 han muerto con un cuadro de insuficiencia hepática aguda, anemia hemolítica, encefalopatía, sangrado digestivo e insuficiencia renal. En cuatro de estos casos se realizaron estudios histopatológicos postmorten, con microscopía de alta resolución, revelando extensa necrosis submasiva del hígado, con severa colestasis y necrosis lítica y acidófila con regeneración irregulary nodular y especialmente esteatosis microvacuolar, diferente a la observada en otras formas de hepatitis fulminante. Con los hallazgos clínicos, de laboratorio e histopatológicos, concluimos que la enfermedad de Wilson fulminante es una entidad clínica-patológica bien definida, de fatal evolución sin respuesta al tratamiento, incluído la iniciación sin respuesta al tratamiento, incluíndo la iniciación temprana de penicilamina e esteroides

Wilson's disease in young children from northern India.

Though Wilson's disease is not uncommon, there is paucity of reported cases from northern India. Out of 500 new cases registered during 1979-1986 in Chandigarh, nine were diagnosed to have Wilson's disease. Six children presented with a primary liver disease, two with neurological manifestations while one was an asymptomatic sib. All children with hepatic presentation were aged 8 yr or less (mean 6.5 yr). Kayser-Fleischer rings were demonstrable in 8 patients. The disease affects Indian children at a younger age and the diagnosis should be considered in those presenting with an typical hepatic/neurological disorder, Early diagnosis and treatment is mandatory for appropriate management.