Miastenia gravis en la infancia: una serie de tres casos / Myasthenia gravis in infancy: a series of three cases

La miastenia gravis es una enfermedad neuromuscular crónica debida a deficiencia de transmisión nerviosa en la unión neuromuscular, de origen generalmente autoinmune en el adulto, que se caracteriza por grados variables de debilidad de los músculos esqueléticos del cuerpo, que aumenta durante los períodos de actividad y disminuye después de períodos de descanso. Sin embargo en la infancia cobran especial relevancia los síndromes miasténicos congénitos, que encuentran su origen en mutaciones de genes que codifican proteínas que juegan papeles clave en el mantenimiento de la transmisión neuromuscular, teniendo edad de inicio, distribución de debilidad y respuesta a tratamiento variables. Se presentan tres casos con el objetivo de describir el comportamiento clínico de la enfermedad y la utilidad de estudios complementarios ya que es de suma importancia su precoz identificación y tratamiento. Palabras claves: Miastenia gravis, test de estimulación repetitiva, ptosis palpebral, unión neuromuscular, pares craneanos

Myasthenia gravis is a chronic neuromuscular disease due to deficiency of nerve transmission in the neuromuscular junction, usually of an autoimmune origin in the adult, which is characterized by varying degrees of weakness of the skeletal muscles of the body, which increases during periods of activity and decreases after periods of rest. In childhood, however, congenital myasthenic syndromes, which find their origin in mutations of genes that encode proteins that play key roles in maintaining neuromuscular transmission, which may have a varying age of onset, distribution of weakness and response to treatment, are particularly relevant. Three cases are presented with the aim of describing the clinical presentation and course of the disease and the usefulness of complementary studies, since its early diagnosis and treatment is of paramount importance.Keywords: Myasthenia gravis, repetitive stimulation test, palpebral ptosis, neuromuscular junction, cranial pairs.

Estudio transversal de la desviación del tabique nasal en las fi suras unilaterales operadas / Fertility survey of patients opened on of cryptorchidism in the pediatric age

Introducción. La desviación del tabique nasal es una de las deformaciones nasales más significativas entre los pacientes fisurados unilaterales y sus variaciones anatómicas dentro de la cavidad nasal no han sido del todo precisadas en relación al eje antero-posterior Objetivo. Determinar si existen diferencias en el grado de desviación del tabique nasal entre las zonas anterior, media y posterior de la cavidad nasal, en pacientes operados de fi sura-labio-máxilo-palatina unilateral. Material y método. Veintinueve pacientes operados de fi sura labiomáxilo-palatina unilateral entre 5 y 17 años, controlados en el Hospital San Borja Arriarán y Facultad de Odontología de la Universidad de Chile fueron incluidos. El coeficiente de desviación del tabique nasal fue medido a distintas profundidades a lo largo del eje antero-posterior mediante tomografía computarizada de haz cónico, y comparado utilizando un programa para estimar modelos de efectos aleatorios. Resultados. El coeficiente de desviación del tabique nasal presentó diferencias entre los tres planos estudiados. El plano con menor desviación fue el anterior, mientras que el plano con la mayor desviación fue el posterior. Estas diferencias resultaron estadísticamente significativas (P<0,05).Conclusiones. Durante la corrección quirúrgica del tabique nasal de los pacientes portadores de fi sura unilateral completa se debe prestar mayor atención a la porción posterior de esta estructura, ya que se encuentra más comprometida por la deformidad (AU)

Introduction. Nasal septum deviation is one the most significant nasal deformities among cleft and lip patients and its anatomical variations along the anterior-posterior axis within the nasal cavity has not been specified.Aim. To defi ne whether there are differences in the degree of nasal septum deviation between the anterior, middle and posterior areas of the nasal cavity in operated unilateral cleft lip and palate patients. Material and method. Twenty-nine unilateral complete cleft lip and palate patients, between 5 and 17 years, attending San Borja Arriarán Hospital and the University of Chile’s School of Dentistry were included. The nasal septum deviation index was measured at different depths across the anteroposterior axis by cone-beam computed tomography. A random effects model was performed for data analysis. Results. The nasal septum deviation index presented differences between the three planes studied. The plane with lesser deviation was the anterior, while the plane with greater deviation was the posterior. These differences resulted statistically significant (P<0.05).Conclusion. In complete unilateral cleft and lip patients mainly the posterior part of the nasal septum should be corrected, because there is a greater deviation in that area (AU)

Initial experience with neuroendoscopic surgery in West Africa

Introduction: Neuroendoscopic surgery is commonly utilized for the management of intracranial cystic lesions; hydrocephalus; tumor resections and biopsies and for all types of microsurgical procedures that can involve endoscopic assistance. Patients and Methods This study presents a retrospective evaluation of the clinical results of the first twenty consecutive patients who underwent neuroendoscopic procedures. The following parameters were examined; demographics; clinical; radiological; operative and outcome data. Patient follow up averaged 17months (R 3-38months).Results: Twenty (15M; 5F) patients with a mean age of 34 years (R 10 months-74years) underwent a total of 23 neuroendoscopic procedures. Eighty five percent of the patients had a preop diagnosis of supratentorial tumor; 53of these were extraventricular tumors (EVT). Forty eight percent of the neuroendoscopic procedures were at an extraventricular site. Eighty eight percent of the patients with IVT presented with non-communicating hydrocephalus (NCHC); [chi sq; p0.05]; of these 57presented with total blindness. Two with IVT and NCHC underwent total neuroendoscopic tumor excision with complete resolution of hydrocephalus; another two required external ventricular drainage (EVD) followed by ventriculo-peritoneal shunting; three patients underwent subtotal resection followed by neuroendoscopic third ventriculostomy (NETV). There was one patient with congenital aqueductal stenosis and another with NCHC from a posterior fossa tumor; these patients underwent aqueductoplasty and NETV respectively. One patient underwent evacuation of a large hypertensive putaminal hematoma. The complications noted from the series were as follows : one patient died; morbidity rate of 8.7. No blood transfusions were given or required. Conclusion: The initial experience with neuroendoscopic surgery in West Africa consists of the safe performance of IVT and EVT resections ; NETV and aqueductoplasty for the management of hydrocephalus ; and evacuation of intraaxial hematoma