Encefalopatía por Kernicterus. serie clínica / Kernicterus (bilirubin encephalopathy): case reports

Introducción: La ictericia es común en los recién nacidos (RN). Niveles de bilirrubina a partir de 20 mg/dL (en RN de término) pueden causar parálisis cerebral coreoatetósica, hipoacusia sensorioneural, trastornos de la mirada y displasia del esmalte dental, cuadro clínico conocido como kernicterus. Objetivo: Describir 5 casos de kernicterus controlados en una Unidad de Neurología, entre los años 2002-2012. Casos clínicos: Se presentan 5 niños con edades gestacionales entre 35 y 39 semanas, con peso de nacimiento rango 2.580 y 4.250 g y niveles de bilirrubina entre 24 y 47 mg/dL. Dos RN estaban en su domicilio cuando iniciaron la encefalopatía aguda. Todos se trataron con fototerapia y en 3 casos se realizó además exanguineotransfusión. La edad del diagnóstico de kernicterus fluctuó entre los 12 días y 10 años (3 pacientes se diagnosticaron en etapa neonatal) con una resonancia magnética que demostró impregnación de ganglios basales. Todos evolucionaron con trastornos del movimiento de severidad variable. En 3 pacientes se diagnosticó hipoacusia sensorioneural y en dos hubo trastornos de la mirada. Los test psicométricos evaluaron retraso cognitivo en 3 pacientes y desarrollo normal en los restantes. Conclusión: El kernicterus en una enfermedad devastadora que aún está presente en la realidad nacional. Es una causa de parálisis cerebral prevenible, por lo cual es necesario educar a los padres, población y equipo de salud para la detección precoz y tratamiento oportuno de la hiperbilirrubinemia neonatal.

Introduction: Jaundice is common in newborn babies (NB). Bilirubin levels of 20 mg/dL or higher may cause choreoathetoid cerebral palsy, sensorineural hearing loss, eye disorders and enamel dysplasia in term infants; clinical picture compatible with kernicterus. Objective: To describe five cases of kernicterus treated at a Neurology Unit between 2002 and 2012. Case reports: Five cases of babies with gestational ages between 35 and 39 weeks, birth-weight ranging from 2580 to 4250 grams and bilirubin levels between 24 and 47 mg/dL are presented. Two infants were at home when acute encephalopathy developed, all were treated with phototherapy and 3 of them underwent exchange transfusion. The age of diagnosis of kernicterus was between 12 days to 10 years; three patients were diagnosed in neonatal period through MRI that revealed basal ganglia impregnation. All patients evolved presenting movement disorders of varying severity. Three of them were diagnosed with sensorineural hearing impairments and two presented eye disorders. Psychometric tests showed cognitive delay in three patients and normal development in the remaining children. Conclusion: Kernicterus in a devastating disease present in the national reality. It is a preventable cause of cerebral palsy; therefore, it is necessary to educate parents, population and health care professionals about neonatal hyperbilirubinemia early detection and treatment.

Síndrome moyamoya en paciente con síndrome de Down y déficit de antitrombina III / Moyamoya disease in a girl with Down syndrome. Report of one case

Moyamoya disease is a unique chronic progressive cerebrovascular disease characterized by bilateral stenosis or occlusion of the arteries around the circle of Willis with prominent arterial collateral circulation. It can be primary or secondary to genetic syndromes such as Down syndrome. We report a seven year-old girl with a Down syndrome that presented with a disturbance of consciousness, seizures and a right hemiparesia at the age of five. Magnetic resonance imaging showed old cortical ischemic lesions in both cerebral hemispheres and a recent infarction in the territory of the ¡eft middle cerebral artery. Brain angiography showed a proximal stenosis of both medial cerebral arteries and a net of collateral vessels, consistent with the diagnosis of moyamoya syndrome. The patient had also an antithrombin III deficiency. Aspirin was indicated and a surgical correction was recommended. However, prior to the procedure, the patient had a new infarction in the territory of the right middle cerebral artery, which caused a severe disability.

Mucolipidosis tipo IV en una paciente con ancestros mapuches: caso clínico / Mucolipidoses type IV in a patient with Mapuche ancestry

We report a 7 year-old girl with mapuche ancestors, diagnosed as a cerebral palsy since infancy and on active rehabilitation. She acquired motor and cognitive skills at 3 years of age. At 5 years of age, a slow neurological deterioration started, associated to visual impairment. Optic atrophy was added to the typical neurological exam ofataxic cerebral palsy and the diagnosis was re-considered. Neuroimaging showed a slow and progressive atrophy of intracerebral structures and ultramicroscopy revealed intracytoplasmatic inclusions in conjunctiva and skin, compatible with mucolipidoses type IV (ML-IV). ML-IV must be included in the differencial diagnosis of cerebral palsy associated with loss of acquired skills and progressive visual impairment. Electrón microscopy of skin or conjunctiva is a useful diagnostic test. Suspicion of ML-IV must not be restricted to Ashkenazi Jewish population.

Leucoencefalopatía reversible posterior: cuatro casos clínicos / Reversible posterior leukoencephalopathy syndrome in patients with immunosupressive treatment: Report of four cases

Reversible posterior leukoencephalopathy syndrome (PLS) is characterized by headache, clouding of sensorium, visual disturbances and seizures. It is associated to hypertension, renal disease or immunosuppressive therapy. We report three males, aged 9, 12 and 16 years and one female, aged 5 years wih PLS associated to immunosuppressive therapy. All had seizures and three had headache and clouding of sensorium. One case was associated to an hypertensive emergency, one to liver failure and one to high tacrolimus levels. Magnetic resonance imaging showed lesions in the white matter in two patients and in the gray matter in the other two. The lapse between the start of immunosuppressive treatment and neurological symptoms ranged from 4 days to 6 months. All received antiepileptic drugs and immunosuppresive therapy was changed or decreased, with complete clinical recovery.

Trombosis venosa cortical aislada: Comunicación de dos pacientes / Isolated cortical vein thrombosis: Report of two cases

Isolated cortical vein thrombosis is an uncommon presentation of central venous thrombosis. We report two females, aged 29 and 40 years, with isolated cortical vein thrombosis. Both presented with a focal neurological deficit and focal seizures that became generalized. The diagnosis was made with magnetic resonance imaging. Both had a history of oral contraceptive use. Both had a rapid response to unfractionated heparin. One patient had an antiphospholipid syndrome as a possible etiology. The most common manifestations of this disease are a transient or recurrent neurological deficit, visual disturbances and focal or generalized seizures, usually without intracanial hypertension. Neuroimages show ischemic abnormalities that do not follow an arterial vascular territory, often with an early hemorrhagic component. There is a good clinical response to heparin.

Hematoma talámico bilateral simultáneo: Reporte de dos casos y revisión de la literatura / Simultaneous bilateral thalamic hematoma. Case report and review of literature

The simultaneous occurrence of brain hemorrhages in different territories is rare and has a poor outcome. The predisposing risk factors and pathophysiological mechanisms are not clearly understood. We describe two patients with simultaneous bilateral thalamic hemorrhages. We analysed the clinical features, radiological images and neurological prognosis.

Las hemorragias encefálicas que comprometan diferentes territorios en forma simultánea son infrecuentes y de mal pronóstico. Sus factores de riesgo son múltiples. Reportamos dos pacientes con hematoma talámico bilateral simultáneo, analizamos su presentación clínica, hallazgos imagenológicos y pronóstico neurológico.

Fusión de imágenes en neurocirugía / Image fusion in neurosurgery

Introducción: La fusión de imágenes permite integrar el máximo de información anatómico-funcional en una sola imagen. Su aplicación es en neuronavegación y planificación de radiocirugía. Nuestro objetivo es presentar la experiencia inicial de, nuestro departamento en el uso de esta técnica. Método: Se fusionó información imagenológica anatómica-funcional en formato DICOM3.0, en una estación de trabajo SUN (ULTRAESPARC) los voxeles se transformaron a una matriz isotropica. En 4 casos se utilizó para planeación estereotáxica fusionando Tomografía Computada (TC), con Resonancia Magnética (RM). En 3 casos de cirugía de epilepsia se fusionó imágenes de zonas ictales de Tomografía Computada de Emisión de Fotones Únicos (SPECT), con RM y TC para asistir en procedimientos decirugía de epilepsia. Resultados: La fusión de imágenes de RM y TC resultó útil en cirugía estereotáxica puescombina la mejor resolución de la RM con la menor distorsión de la TC. En cirugía de epilepsia la fusión de imágenes ayudó a identificar y resecar el área de interés. Conclusión: La fusión de imágenes aparenta ser una herramienta útil para el neurocirujano. Nosotros vemos aplicación de esta tecnología para biopsias estereotáxicas de lesiones infecciosas o tumorales que no son visibles en TC pero sí en RM y también en eldespliegue de información imagenológica de aspectos anatómicos y metabólicos en cirugía de epilepsia y tumoral.

Características de la enfermedad cerebrovascular en un Servicio de Cuidados Intermedios Neurológicos, en Chile. Análisis de 459 pacientes consecutivos / Cerebrovascular disease in a Neurologic Intermediate Care Unit in Chile. Analysis of 459 consecutive patients

Background: Stroke is the second cause of mortality and the first cause of morbidity in Chile and worldwide. Nowadays there is a major interest in introducing new therapies applying evidence based medicine for these patients. Aim: To describe the clinical profile of patients attended after a stroke, to determine stroke subtypes and their risk factors. Material and methods: Retrospective review of clinical records of 459 patients (mean age 65±48 years, 238 female) that were admitted to our unit during a period of 37 months. Results: Sixty three percent of patients had an ischemic stroke, 14% had an hemorrhagic stroke, 15% had a transient ischemic attack, 2% had a cerebral venous thrombosis and 6% a subarachnoidal hemorrhage. The global mortality was 1%. Seventy percent of patients had a history of high blood pressure. Conclusions: The most common type of stroke is ischemic and high blood pressure is the main risk factor.

Imagen de pseudo hemorragia subaracnoidea en un paciente con encelopatía hipóxico-isquémica / Pseudo subarachnoid hemorrhage imaging in a patient with hypoxic-ischemic encephalopathy

Algunas enfermedades del sistema nervioso central pueden imitar el patrón tomográfico de la hemorragia subaracnoidea, la más frecuente es la encefalopatía hipóxico isquémica. Su reconocimiento por especialistas es trascendente ya que evita el estudio y tratamiento agresivo en este grupo de pacientes. Presentamos un caso con diagnóstico clínico y tomográfico probable, pero sin confirmación ya que no se realizó estudio de LCR ni autopsia. El paciente sufrió una encefalopatía hipóxica-isquémica cuya tomografía computada al tercer día mostró una imagen sugerente de pseudohemorragia subaracnoidea inexistente al ingreso.

Some catastrophic diseases of the central nervous system can simulate the tomographic pattern of the subarachnoid hemorrhage; the most frequent is the hypoxic-ischemic encephalopathy. The recognition of this entity by the physicians can prevent an aggressive study and treatment of this group of patients. We present a case with clinical and tomographic probably diagnosis but without final confirmation by cerebrospinal fluid analysis or autopsy. A patient who developed a hypoxic-ischemic encephalopathy, three days after, his brain computed tomography showed a pseudo subarachnoid hemorrhage imaging.

Síndrome del creciente temporal: Reporte de un caso y revisión de la literatura / Temporal crescent syndrome: Report of one case

The temporal crescent syndrome or half-moon syndrome is a rare mono ocular retrochiasmatic visual field defect that can be correlated to a lesion along the contralateral parieto-occipital sulcus. This field defect may be missed in automated perimetry. We report a 45 years old man, consulting for sudden loss of the peripheral temporal field in his right eye. The magnetic resonance imaging and the spectroscopy studies confirmed an ischemic lesion on the left anterior occipital cortex. Control imaging studies six months later did not show changes in the lesion.

Infarto maligno de la arteria cerebral media en una paciente con meningitis bacteriana / Malignant infarct of the middle cerebral artery in a patient with bacterial meningitis

The mortality of acute bacterial meningitis (BM) has remained stable in the last decades in spite of the use of new antibiotics, probably due to vascular complications. We report a 68-year-old woman with BM who had a malignant infarction of left middle cerebral artery territory 72 hours after admission to the hospital. The patient experienced a bad evolution and died four days after admission. The arterial involvement in patients with BM is explained by vasospasm of large arteries and vasculitis of small arteries. The medical treatment of a malignant middle cerebral artery infarct has a high mortality.

Trombolisis intraarterial en trombosis de la arteria basilar: recuperación de dos pacientes con sÝndrome de enclaustramiento / Intra-arterial thrombolysis in locked-in syndrome: report of two cases

Locked-in syndrome is a dramatic clinical condition, the patient is awake, can listen and breath, but is unable to move any muscle, conserving only the vertical eye movements. The most common cause of locked-in syndrome is the thrombosis of the basilar artery and commonly leads to death, frequently due to pneumonia. Intravenous and intra arterial thrombolysis have been used successfully in a selective group of patients with ischemic stroke. There is only one report of two patients with locked-in syndrome who were treated successfully with intra arterial thrombolysis. Other authors, based in their experiences, do not recommend this treatment. We report two female patients aged 63 and 26 years, with Locked-in syndrome due to a basilar thrombosis who were treated successfully with intra arterial thrombolysis using ecombinant tissue plasminogen activator (r-TPA). The lapses between the onset of the symptoms and thrombolysis were 5 and 8 hours respectively. A complete recanalization was obtained in both patients during the thrombolysis. One year after, the first patient has only a moderate ataxia, walking with assistance and the other has a normal neurological examination (Rev MÚd Chile 2004; 132: 357-60 ).

Hipercoagulabilidad en fibrilación auricular y su relación con factores de riesgo para embolia sistémica / Hypercoagulable state in atrial fibrillation and its relationship with risk factors for systemic embolism

Background: Atrial fibrillation is associated to a high risk of systemic embolism and to hypercoagulability. Aim: To evaluate the activation of the coagulation cascade through determinations of the thrombin-antithrombin complex in patients with atrial fibrillation and to correlate this data with the clinical and echocardiographic risk factors for systemic embolism. Patients and Methods: In 53 patients with atrial fibrillation plasma levels of the thrombin-antithrombin complex were determined on admission to a coronary care unit and 30 days later. Using a univariate and multiple regression analysis, the association basal thrombin-antithrombin with the duration of the arrhythmia, age over 70 years, previous use of antiplatelet agents, history of hypertension, mitral valve disease, diabetes, heart failure, previous systemic embolism, left atrial diameter and the presence of spontaneous contrast echo or thrombus in the left atrial appendage, was studied. Results: Basal thrombin-antithrombin values were 40.1ñ69 mg/L (Median 8.34 [3.0-47.5]) compared to 2.7ñ3.3 mg/L in healthy controls (p <0.001). No significant correlation was found between activation of the coagulation cascade and risk factors for systemic embolism. There were no significant differences in thrombin-antithrombin values between patients with chronic or paroxysmal atrial fibrillation (29.5ñ43 mg/L and 49.4ñ83 mg/L respectively). Mean thrombin-antithrombin values in patients under antiplatelet agents were lower than in those without treatment (17.3ñ43 vs 66.8ñ127 mg/L; p=0.018). Conclusions: The activation of the coagulation cascade in patients with atrial fibrillation was confirmed. However, no association of this activation with well known clinical and echocardiographic risk factors for systemic embolism, was found. Previous antiplatelet treatment prevented a higher activation of the coagulation cascade

Ritmo cardíaco y embolias sistémicas en la evolución alejada de pacientes con fibrilación auricular paroxística no valvular / Cardiac rhythm and systemic emboli during long term follow up of patients with non-valvular paroxysmal atrial fibrillation

Background: Paroxysmal atrial fibrillation may predispose to systemic embolism. There is little information about the evolution of cardiac rhythm and the occurrence of new embolic events in these patients. Aim: To report the results of a long term follow up of patients with paroxysmal atrial fibrillation. Patients and methods: Patients consulting for non valvular paroxysmal atrial fibrillation were followed for a mean period of 5 years. An EKG, 2D echocardiogram and brain CT scans were performed on admission and at the end of the follow up period to all patients. Results: Sixty eight patients aged 65 ñ 1.5 years were studied. Thirty two had an idiopathic atrial fibrillation, 28 had a history of mild hypertension and 8 had a history of coronary artery disease. Evidence of systemic emboli was found in 17 patients at entry (to the brain in 14 patients). During the follow up 87 per cent of patients required antiarrhythmics, 27 per cent were anticoagulated and 28 per cent received aspirin. Five patients had new embolic episodes. Of these, four had a history of prior embolism. Forty one percent of patients continued in sinus rhythm and remained asymptomatic, 32 per cent had at least one recurrence of paroxysmal atrial fibrillation and nine patients evolved to chronic atrial fibrillation. Five patients required a permanent pacemaker due to symptomatic bradycardia. Conclusions: Most patients with non valvular paroxysmal atrial fibrillation remain in sinus rhythm but one third have recurrences of the arrhythmia. A main risk factor for embolism is the history of previous embolic episodes

Hematoma intracerebral como primera manifestación de hemofilia / Intracranial hematoma as the first manifestation of hemophilia

La hemorragia intracraneana ocurre entre 2 por ciento y 13 por ciento de los enfermos hemofílicos,pudiendo ser subaracnoidea, subdural o intracerebral (hematoma intracerebral). Es infrecuente como primera manifestación de la enfermedad, habiéndose demostrado en 5,9 por ciento de los pacientes con hemofilia A. En 54 por ciento de los casos hay antecedentes de traumatismo, pero en 38 por ciento no se identifica una causa desencadenante. La tomografía axial computadorizada suele permitir el diagnóstico sin dificultad, pero excepcionalmente las imágenes obtenidas pueden ser confundidadas con las de otras afecciones. Se describe un niño de tres meses de edad, en quien la primera manifestación de hemofilia fue un hematoma intracerebral, interpretado inicialmente como tumor, descubriéndose su verdadera naturaleza durante la intervención quirúrgica y su etiología hemofílica al estudiar la coagulación como consecuencia de nuevos sangramientos intracraneanos en el período postoperatorio

Carcinoma de plexos coroídeos: utilidad de un tratamiento combinado / Choroidal plexus carcinoma: utility of a combined treatment

El carcinoma de los plexos coroídeos es infrecuente y ocurre generalmente en los primeros tres años de vida. La mayoría de ellos alcanza gran tamaño y vascularización, lo que hace difícil el tratamiento quirúrgico. La radioterapia no ha sido beneficiosa y a esta edad puede causar severas secuelas intelectuales y endocrinas. La quimioterapia, si bien no ha sido establecida como un tratamiento definitivo, es eficaz para reducir el tumor, permitiendo la resección quirúrgica completa o deteniendo la progresión de la enfermedad, para realizar radioterapia a una edad menos riesgosa. Se describe el caso de una niña de 2,5 años de edad, con carcinomna de plexos coroídeos, en los cuales la resección quirúrgica inicial no fue posible debido a la extrema vascularización del tumor. Sometida a quimioterapia, se obtuvo una reducción importante de la lesión, lo que hizo posible resecarla completamente un año y medio después del comienzo de los síntomas, estando libre de enfermedad un año mas tarde. El tratamiento quimioterápico seguido de la resección quirúrgica puede ser una buena opción en este tipo de lesiones, que a pesar de sus características malignas son potencialmente curables

Estudio multidisciplinario de los accidentes vasculares encefálicos: II perfil cardiovascular de los accidentes vasculares oclusivos / Multidisciplinary study of encephalic vascular accidents: II cardiovascular profile of occlusive vascular accidents

Ischemic stroke constitute a major cause of morbidity and mortality in the adult population, particulary in the elderly. Heart disease may predispose to ischemic stroke, especially in the presence of transient or permanent precipitating factors such as atrial fibrillation. To elucidate the role of heart disease in predisposing to ischemic stroke we studied the clinical and non invasive cardiac profile (EKG, 2D-Echo, Holter) of 186 consecutive patients, 91 of them embolic (Gl) and 96 non embolic (lacunar, atherotrombotic, others) (Gll), as determided by brain CT scan and through clinical evaluation. Age and male/female ratio were significantly different (71 + 13 vs 65 + 12 years, 40/60 vs 65/35, p <0.003). Hypertension was equally common in both groups (38 and 40 percent). Patients in Gl had higher prevalence of valvular heart disease (23 vs 1 percent), and atrial fibrillation (67 vs 10 percent), 2D Echo left atrial enlargement (45 vs 16 percent) and supraventricular ectopy in Holter (59 vs 32 percent) p< 0,001. By contrast absence of heart disease (45 vs 19 percent), ST-T changes in EKG (28 vs 14 percent), left ventricular hypertrophy in 2D Echo (28 vs 9 percent) and ventricular ectopy in Holter (54 vs 23 percent) were more prevalent in Gll patients, p<0.001. Multiple stepwise logistic regression analysis showed that age> 70years (relative risk (RR) 1.67), valvular heart disease (RR 2.25), chronic AF (RR 2.44) and paroxysmal AF (RR 1.89) were significant independient predictors of embolic stroke, whereas the presence of left ventricular hypertrophy in 2D-Echo (RR 0.76) and frequent ventricular premature beats in Holter (RR 0.47) were predictors of occlusive non embolic stroke. Thus, the clinical and non invasive cardiac profile of embolic and non embolic ischemic stroke is significantly different, which is relevant to preventive strategies