Enfermedad de Wilson: reporte de caso / Wilson ́s disease: a case report

La enfermedad de Wilson es una condición genética autosómica recesiva poco frecuente. Se ha identificado el gen ATP7B como el que codifica la proteína transportadora de cobre y su deficiencia lleva al acúmulo del metal en el cerebro, hígado y otros órganos vitales. Su diagnóstico clínico precoz es esencial para mejorar la calidad de vida del paciente. A continuación, se presenta el caso de un paciente de 20 años, masculino, con un cuadro clínico de 2 años de evolución de desinhibición, impulsividad, anartria y apraxia de la marcha, movimientos distónicos faciales y en 4 extremidades. Al examen físico se evidenció el anillo de Kayser Flescher a nivel ocular. En Resonancia Magnética Encefálica hiperintensidad en ganglios de la base y mesencéfalo en T2. Ceruloplasmina en suero 4.08 mg/dL. Cobre sérico 26.03ug/dL y cobre en orina de 24 horas 224.30ug/ 24h. Se confirma el diagnóstico de Enfermedad de Wilson, tratándose con D- Penicilamina, evidenciándose una evolución adecuada, con mejoría notable del cuadro neurológico. El tratamiento precoz permite una evolución favorable temprana del paciente, disminuyendo las secuelas neurológicas secundarias a la enfermedad; de ahí la importancia del reporte del presente caso.(AU)

BackgroundWilson's disease is a rare autosomal recessive genetic condition. The ATP7B gene has been identified as the one that encodes the copper transport protein and its deficiency leads to the accumulation of metal in the brain, liver and other vital organs. Your early clinical diagnosis is essential to improve the quality of life of the patient. Following we present the clinical case of a 20-year-old male patient who since 2 years ago, presented disinhibition, impulsivity, anartria and gait apraxia, facial dystonic movements and in extremities. To the physical exam, Kayser Flescher ring was present. In Brain Magnetic Resonance hyperintensity in Basal Ganglia and Midbrain. Serum Ceruloplasmin 4.08. Serum Copper 26.03. Urinary Cupper 224.30. The diagnosis of Wilson's disease is confirmed, treating with D-Penicillamine, evidencing an adequate evolution, with notable improvement of the neurological symptoms. Early treatment allows a favorable early evolution of the patient, reducing the neurological sequelae secondary to the disease; so that the importance of the report of this case.(AU)

In vivo confocal microstructural analysis of corneas presenting Kayser-Fleischer rings in patients with Wilson's disease / Análise microestrutural confocal in vivo de córneas apresentando anel de Kayser-Fleischer em pacientes com doença de Wilson

ABSTRACT Purpose: To evaluate microstructural differences between corneas with and without Kayser-Fleischer rings in age-matched subjects with Wilson's disease with neurological symptoms, using confocal laser scanning microscopy. Methods: The study included 12 subjects with Wilson's disease with neurological symptoms. Twelve corneas presented clinically with classic Kayser-Fleischer rings, visible on slit lamp examination; the other 12 served as controls. The subjects underwent a comprehensive clinical examination. Microstructural analysis using confocal laser scanning microscopy evaluated increased corneal thickness, decreased number of cells, increased debris or specific deposits, and unusual microstructures. Results: Clinically, the subjects with Kayser-Fleischer rings had similar corneal findings and normal intraocular pressure; two had typical sunflower cataracts and decreased visual acuity. The control eyes all presented normal visual acuity, intraocular pressure, and corneal appearance. The microstructural analysis demonstrated similar findings in all the affected corneas. Compared with the control corneas, there were fewer keratocytes in the anterior stroma (17.380 vs. 22.380/mm3). Round, "hollow" dark areas were observed between the keratocytes; these were universal and similar in appearance in all affected corneas and all cornea layers. In the peripheral posterior stroma, there were dust-like, bright, granular deposits that tended to increase in number and density toward Descemet's membrane, masking the peripheral endothelium. The control corneas presented a normal microstructure apart from dust-like granular deposits in the periphery. Conclusions: In vivo confocal microscopy is a useful tool for evaluating the corneal microstructure when a Kayser-Fleischer ring is clinically present. The ring consists of granular, bright particles that increase in density toward Descemet's membrane, and is associated with a decreased number of keratocytes and peculiar dark, round areas in all stromal layers, probably a sign of corneal damage. When the ring is not visible in subjects with Wilson's disease, changes to the corneal microstructure are insignificant.

RESUMO Objetivo: Avaliar, ao nível microestrutural, através de microscopia confocal in vivo a lazer, 12 córneas com anel de Kayser-Fleischer visível ao exame da lâmpada de fenda e compará-las com 12 córneas clinicamente normais de indivíduos com idades correspondentes aos pacientes com doença de Wilson e sintomas neurológicos. Métodos: O estudo incluiu 12 indivíduos com doença de Wilson e sintomas neurológicos (24 córneas). Doze córneas apresentavam clinicamente o anel clássico de Kayser-Fleischer e as outras 12 serviram como controle. Todos os pacientes foram submetidos a um exame clínico abrangente e a uma análise microestrutural subsequente utilizando microscopia confocal in vivo de varredura a laser. Os principais resultados observados foram: aumento da espessura da córnea, diminuição do número de células, aumento de resíduos/depósitos específicos e microestrutura atípica. Resultados: Clinicamente, todos os indivíduos com anel de Kayser-Fleischer (12 olhos) apresentaram achados similares da córnea e pressão intraocular normal. Dois indivíduos também apresentaram uma catarata de girassol típica e diminuição da acuidade visual. Todos os olhos do grupo controle apresentaram acuidade visual, pressão intraocular e aparência corneana normais. A microscopia confocal in vivo com varredura a laser revelou achados semelhantes em todas as córneas afetadas. O número de ceratócitos no estroma anterior era menor, 17.380/mm3 (22.380/mm3 no grupo controle), e entre eles foram identificadas áreas escuras arredondadas "vazias". Essas zonas escuras eram generalizadas e similares em todas as córneas examinadas e em todas as camadas da córnea. No estroma posterior periférico, havia presença de depósitos granulares brilhantes e com aparência de pó que tendiam a aumentar em número e densidade no sentido da membrana de Descemet, mascarando o endotélio periférico. As córneas controle apresentaram estrutura normal, com exceção de depósitos granulares com aparência de pó na periferia. Conclusões: A microscopia confocal in vivo é uma ferramenta útil para a avaliação da microestrutura da córnea quando o anel de Kayser-Fleischer está clinicamente presente. O anel é constituído de partículas granulares brilhantes com densidade aumentada no sentido da membrana de Descemet. Sua presença está associada com uma diminuição do número de ceratócitos e com áreas circulares escuras "peculiares" em todas as camadas estromais, que representam, provavelmente, um sinal de dano da córnea. Quando o anel não está clinicamente visível, a estrutura da córnea in vivo encontra-se insignificantemente alterada.

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 with extensive white and gray matter MRI abnormalities: a case report

Wilson disease is an autosomal recessive disease, characterized by excessive accumulation of copper in the body, particularly in the liver, brain, cornea and kidney, with variable clinical manifestations. The outcome of treatment depends on early diagnosis of the disease before major irreversible tissue destruction occurs. Early diagnosis might be difficult because of its diverse clinical manifestations. We herein report on a patient with severe clinical and imaging manifestations. The patient showed cerebral atrophy and extensive abnormalities in frontal lobes, the putamen, the thalami, cerebral peduncles and posterior aspects of the occipital lobes. Such wide spread changes involving the white matter as well as the gray matter is rarely reported

Extensive CT scan abnormality in Wilson's disease.

A case of Wilson's disease with extensive white matter hypodensity, including in the basal ganglia, on CT scan is presented. Such extensive CT scan abnormality has not been described in Wilson's disease.