Secuencia Moebius. Análisis retrospectivo de 30 pacientes / Moebius syndrome. A retrospective analysis of 30 patients.

Introducción: La secuencia Moebius se caracteriza por el compromiso congénito de los nervios motor ocular externo y facial, y se puede asociar al compromiso de otros pares craneales y a otros defectos congénitos. Su etiología es multifactorial y no bien definida, actualmente la teoría más aceptada es la disrupción vascular durante el desarrollo del romboencéfalo. Su incidencia exacta se desconoce, pero impresiona estar en aumento y asociada a la exposición prenatal a teratógenos. Objetivos: Analizar las historias clínicas de 30 pacientes con secuencia Moebius y las características de su compromiso ocular. Materiales y métodos: Estudio retrospectivo, transversal, observacional y descriptivo. Se analizaron 30 historias clínicas de pacientes con secuencia Moebius atendidos por vez primera entre el mes de Julio de 1999 y Junio de 2012 por el servicio de Oftalmología del Hospital Garrahan. Resultados: Se estudiaron 30 pacientes 15 de sexo femenino y 15 de sexo masculino, dentro de los antecedentes maternos 7 madres refirieron ingesta de misoprostol y 4 tuvieron metrorragias durante el primer trimestre de embarazo. Todos los pacientes tuvieron compromiso del VII nervio; en 20 pacientes fue bilateral y simétrico; y en los restantes asimétrico. Todos los pacientes tuvieron compromiso del VI nervio bilateral, a algunos de los cuáles se les efectuó cirugía de estrabismo otros están en plan de cirugía y unos pocos no la requirieron por presentar fijación de ambos ojos en posición primaria de la mirada. Conclusión: la secuencia Moebius es una rara patología genética y congénita multifactorial y de compromiso multisistémico que ha visto incrementada su frecuencia desde el uso de ciertos fármacos teratógenos y que obliga a una intervención quirúrgica precoz de neuroortopedistas, oftalmólogos, cirujanos plásticos y control clínico multidisciplinario para brindarles a estos niños las mejores posibilidades de desarrollo funcional y estético reparador (AU)

Introduction: Moebius syndrome is characterized by congenital palsy of the external and facial oculomotpr nerves, and may be associated with involvement of other cranial nerves and congenital defects. The etiology is multifactorial and not well defined. Currently, the most widely accepted theory is a rhombencephalic maldevelopment. The true incidence of Moebius syndrome is unknown, but it seems to be increasing associated with prenatal exposure to teratogenic factors. Objectives: To analyze the clinical charts of 30 patients with Moebius syndrome assessing ocular involvement. Material and methods: A retrospective, cross-sectional, observational study. Thirty clinical charts of patients with Moebius syndrome that were first seen at the Department of Ophthalmology of Hospital Garrahan between July 1999 and June 2012 were assessed. Results: Of the 30 patients 15 were female and 15 male. Maternal history showed seven mothers that received misoprostol and four that had metrorrhagia in the first trimester of pregnancy. All patients had VII cranial nerve involvement; the involvement was bilateral and symmetric in 20 and asymmetric in the remaining patients. All patients had bilateral VI nerve involvement, some of whom underwent surgery for strabismus, others are on the list for surgery, and a few do not require surgery because of fixation of both eyes in primary gaze position. Conclusion: Moebius syndrome is a rare multifactorial genetic and congenital pathology with multisystemic involvement and increased incidence because of the use of teratogenic drugs requiring early surgical intervention by neuroorthopedic and plastic surgeons, and ophthalmologists, and a multidisciplinary follow-up to provide these children with the best possibilities for functional development and aesthetic repair (AU)

Esophageal atresia and prenatal exposure to mycophenolate.

Mycophenolate mofetil is a widely prescribed immunosuppressive agent for transplant patients and autoimmune diseases. Potential teratogenic effects after in utero exposure to mycophenolate mofetil has been described in human clinical observations. The complete clinical pattern is still being delineated. We present four newborns with esophageal atresia and other congenital anomalies, prenatally exposed to mycophenolate mofetil during the first trimester. Two of the cases had other defects related to the embryopathy: microtia, eye abnormalities and oral clefts. Two cases did not show major craniofacial anomalies. We propose that esophageal atresia with or without tracheoesophageal fistula is a feature of mycophenolate embryopathy even without the presence of other major craniofacial anomalies. The human teratogenicity of MMF is reinforced by this report, and the current contraceptive recommendations about its use in fertile women are stressed.