Hallazgos neurorradiológicos en dos casos de enfermedad de Wilson de presentación neurológica / Neuroradiological findings in Wilson disease presenting with neurological involvement: report of 2 cases

Wilson disease is an inborn error of copper metabolism that bas neurological and hepatic manifestations. We report a 13 years old girl and a 12 years old boy with Wilson disease. In both patient, brain computed tomography and magnetic resonance imaging showed marked involvement of basal ganglia and other deep gray nuclei. Considering that this is a treatable disease, it should be included in the differential diagnosis of the so called "striatal necrosis of childhood"

Crisis isquémicas transitorias en Chile y su relación con el patrón de enfermedad cerebrovascular chileno / Transient ischemic attacks in Chile and it relation with chilean cerebrovascular disease standard

Patients and methods: One hundred forty nine patientes admitted to a Neurology service of a public hospital in Santiago, with an acute stroke, were studied. Patients and close relatives were interrogated about previous symptoms of TIA using a structured questionnaire. Results: One hundred nine patients had an ischemic and 40 patients a hemorrhagic stroke. Twenty patients with ischemic stroke had a history of TIA (18 percent). Fifteen out of 74 patients without a cardiac source of emboli (20 percent) and five out of 354 cases with an embolic source (14 percent) had a TIA preceding their stroke. Three out of 40 patients (8 percent) with hemorrhagic stroke had a history of TIA. Conclusions: This study does not support nor reject the hypothesis of a Chilean pattern of cerebrovascular disease unlike that found in Northern Caucasians

Temblor ortostático: una causa de dificultad en permanecer quieto de pie / Orthostatic tremor: a cause of difficulty in standing up

Orthostatic tremor is characterized by a fine tremor of lower limb muscles that produces instability while standing still and alleviates on walking or sitting. We report 2 patients, aged 54 and 72 years old, in whom the tremor caused falls. The clinical features, a negative neurological examination, the alleviation on walking or sitting and the good response to clonazepam allowed the diagnosis. This disease should be considered in the differential diagnosis of standing still instability

Enfermedad de Wilson: una revisión a propósito de experiencia clínica en 16 pacientes / Wilson's disease: a review apropos of clinical experience in 16 patients

Wilson's disease is an inherited disorder of copper metabolism. We report 16 patients (6 males) with the disease; 6 had hepatic involvement and 3 were asymptomatic. The age onset was 9 years for hepatic and 17 years for neurologic involvement. The mean delay in diagnosis was 14 months. Chronic hepatitis, cirrhosis and fulminant hepatic failure were the clinical forms of liver disease. Patients with neurologic disorders had behavioral disturbances and extrapyramidal manifestations such as dystonia and parkinsonism. Patients had a good response to penicillamine, except 3 that died of liver complications, in whom the treatment was delayed or discontinued. We conclude that this metabolic disease must be suspected in pubertal children and in adults of less than 30 years old with liver disease of unknown origin or behavioral alterations associated to an extrapyramidal syndrome

Miopatía del cuadriceps: una forma de distrofia focal tardía en un caso / Quadriceps myopathy: a from of late focal dystrophy

A 62 years old male with a slowly progressive focal myopathy is presented. He had noticed weakness in the lower limbs of 3 years and weakness in the upper limbs for 1 year. He had bilateral atrophy of quadriceps and biceps muscles, absence of knee jerks and hypertrophy of the calves. Needle EMG showed myopathic motor units. Hystological study was compatible with muscular distrophy. The clinical and laboratory characteristics of the patient are in keeping with what has been described as quadriceps myopathy as a form of a muscular dystrophy