Neurologic Wilson disease: case series on a diagnostic and therapeutic emergency.

Wilson disease is a rare genetic disease causing pathologic deposition of copper in the liver, brain, cornea, kidney, and cardiac muscles. Presented are two cases of neurologic Wilson disease with progressive movement disorder and Kayser-Fleischer rings with low serum copper, low ceruloplasmin, and increased 24-hour urine copper against a background of normal transaminases. Cranial imaging revealed symmetric basal ganglia hyperintensities in T2/FLAIR. More often than not, these cases go unnoticed and misdiagnosed because of its rarity and varied presentation. Extensive workup is necessary to confirm the diagnosis. As for management, the earlier the intervention is initiated, the better prognosis would be for recovery. There are several treatment options which should be tailored to every patient with neurologic Wilson disease. Neurologic Wilson disease is considered as a copper toxicity; immediate diagnostic evaluation and early treatment initiation is a must.

La Enfermedad de Wilson es una enfermedad genética rara provocada por un depósito patológico de cobre en el hígado, cerebro, córnea, riñón y músculo cardíaco. Se presentan dos casos de Enfermedad de Wilson neurológica con trastorno progresivo del movimiento y anillos de Kayser-Fleischer con cobre y ceruloplasmina séricos bajos, y aumento de cobre en orina de 24 horas, con transaminasas normales. Las imágenes craneales revelan hiperintensidad simétrica en T2/FLAIR de los ganglios basales. Lo más frecuente es que estos casos pasen inadvertidos o no se realice el diagnóstico correcto debido a la rareza y variedad de sus presentaciones. Se require de un completo trabajo para poder precisar el diagnóstico. Respecto al manejo, cuanto antes se inicie la intervención, mejor será el pronóstico para la recuperación. Existen diversas opciones terapéuticas y deben adaptarse a cada paciente con Enfermedad de Wilson neurológica. La Enfermedad de Wilson neurológica se considera una toxicidad al cobre, por lo que es una necesidad la evaluación diagnóstica inmediata y el tratamiento precoz.

La maladie de Wilson est une maladie génétique rare qui provoque un dépôt de cuivre pathologique dans le foie, le cerveau, la cornée, le rein et le muscle cardiaque. Nous présentons deux cas de maladie de Wilson dans sa forme neurologique avec un trouble kinétique progressif et des anneaux de Kayser-Fleischer, avec une hypocuprémie, une hypocéruloplasminémie et une hypercuprurie des 24 h, les transaminases étant normales. L'IRM cérébrale montre des hypersignaux symétriques en FLAIR et T2 des ganglions de la base. Le plus souvent ces cas ne sont pas diagnostiqués et passent inaperçus en raison de la rareté et de la présentation variée de la maladie. Un bilan approfondi est nécessaire pour établir le diagnostic. De même que pour la prise en charge, plus tôt le traitement est instauré, meilleur est le pronostic de guérison. Plusieurs options de traitement sont disponibles qui doivent être adaptées à chaque patient atteint de la maladie de Wilson. La maladie de Wilson sous sa forme neurologique est considérée comme une toxicité au cuivre ; elle nécessite une évaluation diagnostique immédiate et un traitement précoce.

Hemolytic anemia presenting as hemoglobinuria from intentional paradichlorobenzene mothball ingestion

A 24-year-old Filipino male was diagnosed with hemolytic anemia when he presented with abrupt onset of anemia, hemoglobinuria, and increased bilirubins, after intentionally ingesting mothballs containing paradichlorobenzene. He was transfused with six units of packed red blood cells (PRBC) and was discharged improved. Paradichlorobenzene, a known oxidant, causes denaturation and precipitation of hemoglobin. These precipitates form Heins bodies within the erythrocytes that are removed by the reticuloendothelial system, fragmenting cells to produce hemoytic anemia from paradicholorobenzene ingestion as confirmed by the UP-National Poison Management and Control Center.

Usefulness of monofilament testing for detecting peripheral neuropathy I

BACKGROUND: The monofilament test is a simple and inexpensive tool used for the detection of diabetic peripheral neuropathy in the community setting but it is unclear whether its use can be extended to patients with neuropathy that is not due to diabetes. OBJECTIVE: We aimed to determine the sensitivity and specificity of the monofilament test in detecting peripheral neuropathy, diabetic or non-diabetic, using Nerve Conduction Studies (NCS) as the gold standard. METHODS: In a health assessment activity in Marinduque, patients were assessed by a neurologist as to whether or not they have neuropathy. Monofilament testing was done using the NHANES protocol with a 10-g Semmes Weinstein monofilament. Nerve Conduction Study was used as the gold standard. RESULTS: Fourteen patients were included in the study. A positive monofilament test was found to be significantly associated with a positive NCS result (p CONCLUSION: Monofilament testing was found to be useful in detecting peripheral neuropathy in the community setting. If monofilament testing is positive, then peripheral neuropathy is ruled in. If the test is negative but the clinical suspicion is high, then NCS may be warranted. This cuts back the need for NCS to detect neuropathy in the community setting by more than half.