Determinación y jerarquización de signos clínicos para diagnóstico temprano de xantomatosis cerebrotendinosa / Determination and hierarchy of clinical signs for early detection of cerebrotendinous xanthomatosis

Background: Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene resulting in a decreased synthesis of bile acids. An early diagnosis and treatment would reduce the longterm complications observed in this disease. Aim: To identify and hierarchize initial clinical signs of CTX to establish an early diagnostic suspicion index. Material and Methods: Clinical information was collected from 387 patients diagnosed with CTX, published in MEDLINE between 1968 and 2016. Clinical manifestations were identified, determining their prevalence and age of onset. Sensitivity, specificity and the positive Likelihood ratio (LR+) was calculated for each clinical sign evaluated. Results: The average ages for early symptoms' onset and CTX diagnosis were 13.3 ± 10.6 years and 34.6 ± 12.6 years respectively. The early clinical signs and their respective LR+ were: juvenile cataracts (143), epilepsy (81), chronic diarrhea (15.6) and psychomotor development delay (3.4). The presence of consanguinity among parents resulted in a LR+ of 31. The combination of two early signs increased the post-test probability to 30%. If the early diagnostic criteria would have been applied in three Chilean patients with diagnosis of CTX, their disease would have been diagnosed from 12 to 25 years earlier. Conclusions: The use of a hierarchical system of predictive clinical signs allows an early screening of CTX, which may avoid the natural progression of the disease using an appropriate treatment.

Anestesia neuroaxial en trabajo de parto y cesárea en pacientes con antecedentes de mielomeningocele operado / Neuraxial anesthesia in labor and cesarean delivery in patients with a history of myelomeningocele operated

Los desórdenes del desarrollo del tubo neural son el segundo mayor grupo de malformaciones congénitas conocidas y con una incidencia de 1/1000 nacidos vivos. El meningomielocele es una de las malformaciones más frecuentes. Se define como una falla en el cierre del tubo neural con herniación de meninges y elementos neurales. El embarazo en estas pacientes es complicado por las deformidades físicas y complicaciones neurológicas secundarias, pudiendo dificultar la técnica anestésica neuroaxial en el trabajo de parto y operación cesárea. Existen escasos reportes de pacientes con meningomielocele en trabajo de parto y analgesia neuroaxial. Presentamos una revisión de esta patología y las técnicas anestésicas utilizadas en el trabajo de parto y operación cesárea de pacientes con antecedente de meningomielocele, basados en un caso clínico del cual participamos.

Neural tube defects are the second most common type of congenital birth defects with an incidence of 1/1000 newborns. Meningomyelocele is one of the most common clinical presentations. It is defined as a failed closure of the neural arch with herniation of the meninges and neural elements. Pregnancy among these patients can be complicated with physical deformity and coexisting neurological defects, which may challenge neuroaxial anesthetic technique in obstetric labor and cesarean delivery. There are few reports involving patients with meningomyelocele in obstetric labor and neuroaxial anesthesia. We discuss some key points of this disease and the anesthetic technique of choice in obstetric labor and cesarean delivery in patients with history of meningomyelocele, based on a case in which we participated.

Trombosis de seno venoso secundaria a traumatismo encéfalo craneano: caso clínico / Cerebral vein thrombosis secondary to closed head injury: Report of one case

Intracranial sinus thrombosis (1ST) after closed head injury is an uncommon but potentially serious complication. It has no correlation with the severity of the injury. The symptoms and clinical course are highly variable. The most frequent but least specific symptom is severe headache. Cerebral lesions and neurologic signs develop in half of patients with IST. We report a 29 year-old male who had an IST after a severe closed head injury. The patient initially developed headache and had later 2 secondarily generalized seizures. The magnetic resonance imaging showed a superior sagittal sinus thrombosis. Anticoagulation with unfractionated heparin and intravenous phenytoin was started. At the moment of this report he is asymptomatic and continues with oral anticoagulants and phenytoin.

Síndrome anti-GQ1b: Descripción de cuatro pacientes y revisión de la literatura / Anti-GQ1b syndrome: Report of four cases

Anti-GQ1b syndrome includes Miller Fisher Syndrome (MFS), Guillain Barré Syndrome (GBS), Bickerstaff`s brain stem encephalitis (BBE) and Acute Ophtamoplegia (AO). We report four patients aged 16 to 76 years, with anti-GQ1b syndrome. All presented with MFS, one of them evolved to GBS pharyngeal-cervical-brachial variant and other to GBS with BBE. All had a previous history of diarrhea or upper respiratory tract infection. All had positive anti-GQ1b serum antibodies. Both brain magnetic resonance imaging and cerebrospinal fluid analysis were normal. Electrophysiology studies were compatible with a demyelinating disease. Two patients needed airway protection with an orotracheal tube and developed dysautonomia. All four patients were treated with immunomodulation. On the sixth month follow-up, patients had only minimal alterations in the neurological examination.

Hipotermia intravascular inducida en el manejo de la hipertensión intracraneana en insuficiencia hepática aguda: caso clínico / Intravascular hypothermia for the management of Intracranial hypertension in acute liver failure: case report

Acute liver failure has a mortality rate in excess of 80 percent. Most deaths are attributed to brain edema with intracranial hypertension and herniation of structures, where ammonium plays a major role in its generation. We report an 18 year-old female with a fulminant hepatic failure caused by virus A infection. The patient developed a profound sopor and required mechanical ventilation. A CT scan showed the presence of brain edema and intracranial hypertension. A Raudemic® catheter was inserted to measure intracranial pressure and brain temperature. Intracranial hypertension became refractory and intravascular hypothermia was started, reducing brain temperature to 33°C. Seventy two hours later, a liver transplantation was performed. After testing graft perfusion, rewarming was started, completing 122 hours of hypothermia at 33°C. The patient was discharged in good conditions after 69 days of hospitalization.

Xantomatosis cerebrotendínea: una causa de aumento de volumen bilateral del tendón de Aquiles: caso clínico / Cerebrotendinous xanthomatosis: report of one case

Cerebrotendinous xanthomatosis is an inherited autosomal recessive disease caused by a mutation in the gene for the sterol 27-hydroxylase enzyme, which determines the accumulation of plasmatic cholestanol in various tissues. The natural history of this disease is characterized by chronic diarrhea beginning in childhood, cataract in youth, tendinous xanthomas in adulthood and later progressive neurological dysfunction manifested as dementia, psychiatric disorders, cerebellar, pyramidal or extra pyramidal signs or seizures. We report a 39 year-old male with a history of diarrhea during childhood and bilateral cataracts requiring surgery at 20 years of age, who evolves later with psychiatric disorders and bilateral increased volume in Achules tendons. High levels of plasmatic cholestanol and magnetic resonance imaging confirmed the diagnosis of this disease.

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.

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.

Hemicraniectomía descompresiva en dos pacientes con infarto maligno de la arteria cerebral media / Decompressive hemicraniectomy for malignant middle cerebral artery infarction. Report of two cases

Malignant middle cerebral territory infarction represents 5 to 10 percent of all brain infarctions. Its mortality is 80 percent, due to brain herniation and it is not reduced by medical treatment. Decompressive hemicraniectomy reduces mortality to 12 percent, and the subsequent quality of life of patients is acceptable. We report two male patients aged 61 and 54 years, with a malignant middle cerebral territory infarction who were treated with decompressive hemicraniectomy. After two years of follow up, both patients are self-sufficient and live at home with their families.

Infarto encefálico por embolia aérea: Caso clínico / Ischemic brain infarction after an air embolism: Case report

Ischemic stroke due to embolic air is uncommon. There are few reports of patients with air embolic stroke as a complication of endoscopic procedures. The temporal relationship between the stroke and this procedure is the most important clue for the diagnosis. CT scan and MRI of the brain are confirmatory tests. The morbidity and mortality is high. Patients should be hospitalized in a critical care service and treated as soon as possible with oxygen in a pressure camera. We report a 52 years old woman with an ovarian cancer that, during an upper gastrointestinal endoscopy, had a severe alteration of consciousness that did not respond to the use of Flumazenil. A CT scan showed multiple areas of air embolism in the watershed area between anterior and middle right cerebral arteries. A conservative treatment was decided and the patients died 48 hours later.

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 ).

Ventilación mecánica en pacientes con patologías agudas del Sistema Nervioso Central: sobrevida y pronóstico funcional / Mechanical ventilation in patients with acute neurological disease: Survival and functional outcome

Background: The need of mechanical ventilation among patients with acute neurological diseases is considered a poor prognostic sign. Aim: To determine the mortality and functional recovery of neurological patients requiring mechanical ventilation. Patients and methods: Prospective study of 77 patients (42 men, age 54±19 years, with 11±4 points of Glasgow coma scale (GCS), 61 percent with cerebrovascular disease), that were admitted to the intensive care unit with neurological disease and that required mechanical ventilation. Functional recovery was assessed at 18 months with Glasgow outcome scale (GOS) and Barthel index. Results: Thirty percent of patients died during follow up. Among surviving patients, 47 percent had a good recovery or moderate disability, and 74 percent had a Barthel index equal to or over 70. Arterial hypertension, age over 70 and mechanical ventilation longer than 6 days were associated with bad functional prognosis. Conclusions: Neurological patients requiring mechanical ventilation had a lower mortality than previously reported, and half of the survivors have an independent life. This study supports intensive care management in this group of patients (Rev Méd Chile 2004; 132: 11-8).

Síndrome del "hombre en el barril": reporte de un caso y revisión de la literatura / Man-in-the-barrel syndrome: a case report and review of the literature

El síndrome del "hombre en el barril" se refiere al cuadro clínico de paresia braquial proximal bilateral, que es habitualmente secundaria a una hipotensión arterial sistémica con hipoperfusión encefálica, resultando en una isquemia de zonas limítrofes. Reportamos el caso de un hombre de 57 años, con paresia braquial proximal bilateral después de una cirugía biliar debido a una colangitis. La difusión en resonancia magnética mostró lesiones hiperintensas en la zona correspondiente al límite entre los territorios de las arterias cerebrales media y anterior derechas.

Síndrome de regresión espectacular de isquemia encefálica: (spectacular shrinking deficit) / Spectacular shrinking deficit of brain ischemia

El síndrome de regresión espectacular de la isquemia encefálica (spectacular shrinking deficit) corresponde a la isquemia hemisférica encefálica que se resuelve en forma espontánea y deja un déficit neurológico residual mínimo o nulo. Reportamos el caso de una mujer de 86 años con un síndrome de isquemia hemisférica izquierda súbito y resolución clínica espontánea completa en pocas horas. El estudio con resonancia magnética de encéfalo y angiorresonancia mostró múltiples infartos pequeños en el territorio de la arteria cerebral media izquierda y oclusión completa de la arteria carótida interna izquierda.

Craniectomía descompresiva en una paciente con encefalitis herpética asociada a hipertensión intracraneana refractaria / Decompressive craniectomy in a patient with herpetic encephalitis associated to refractory intracranial hypertension

Herpetic encephalitis is the most common cause of viral encephalitis in our country. Pathological studies show progressive necrosis and edema in specific territories of the brain. The mortality of herpetic encephalitis was reduced from 70% to 20% with the use of intravenous aciclovir in the first three days of illness. However, almost 50% of patients develop a neurological deficit. One of the most important causes of death in herpetic encephalitis is the refractory intracranial hypertension. There are anecdotal reports of patients with refractory intracranial hypertension due to herpetic encephalitis that were treated with decompressive craniectomy with good results. We report a 21 years old female patient with herpetic encephalitis and refractory intracranial hypertension that was successfully treated with a decompressive craniectomy (Rev Méd Chile 2003; 131: 1434-8).