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.

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