RESUMEN
INTRODUCTION: Meckel-Gruber Syndrome (MKS) is an autosomal recessive genetic disorder, notable for its triad of occipital encephalocele, polycystic renal dysplasia, and postaxial polydactyly. Identified by Johann Friederich Meckel in 1822, MKS is categorized as a ciliopathy due to gene mutations. Diagnosis is confirmed by the presence of at least two key features. The condition is incompatible with life, leading to death in the womb or shortly after birth. Recent studies have largely focused on the genetic aspects of MKS, with limited information regarding the impact of neurosurgical approaches, particularly in treating encephaloceles. METHODS: A systematic review was performed according to the PRISMA statement. The PubMed, Embase, and Web of Science databases were consulted for data screening and extraction, which was conducted by two independent reviewers. The search strategy aimed to encompass studies documenting cases of MKS with published reports of encephalocele excisions, and the search strings for all databases were: Meckel-Gruber syndrome OR Meckel Gruber syndrome OR Meckel-gruber OR Meckel Gruber. RESULTS: The study included 10 newborns with MKS associated with occipital encephalocele or meningocele, all of whom underwent surgical repair of the occipital sac. The mean gestational age at birth was 36 (± 2) weeks. The mean of birth weight was 3.14 (± 0.85) kilograms. The average head circumference at birth was 33.82 cm (± 2.17). The mean diameter of the encephalocele/meningocele was 5.91 (± 1.02) cm. Other common central nervous system abnormalities included hydrocephalus, Dandy-Walker malformation, and agenesis of the corpus callosum. 40% required shunting for hydrocephalus. Surgery to remove the occipital sac occurred at a median age of 2.5 days (1.5-6.5). The most common post-surgical complication was the need for mechanical ventilation. The most common cause of death was pneumonia and the median age at death was 6.66 (0.03-18) months. CONCLUSION: Our findings suggest that neurosurgical intervention, especially for managing encephaloceles, may offer some improvement in survival, albeit within a context of generally poor prognosis. However, these results should be interpreted with caution.
Asunto(s)
Trastornos de la Motilidad Ciliar , Encefalocele , Procedimientos Neuroquirúrgicos , Enfermedades Renales Poliquísticas , Retinitis Pigmentosa , Humanos , Encefalocele/cirugía , Encefalocele/diagnóstico por imagen , Retinitis Pigmentosa/cirugía , Procedimientos Neuroquirúrgicos/métodos , Trastornos de la Motilidad Ciliar/cirugía , Trastornos de la Motilidad Ciliar/genética , Enfermedades Renales Poliquísticas/cirugía , Enfermedades Renales Poliquísticas/genética , Anomalías del Ojo/cirugía , Recién NacidoRESUMEN
Conocida es la heterogeneidad genética de la retinosis pigmentaria considerada por diferentes autores como un grupo de enfermedades hereditarias que se deben a distintas mutaciones y se transmiten por diferentes patrones mendelianos de herencia que se manifiesta en general, con un cuadro clínico similar en sus características fundamentales. Notable es también su heterogeneidad desde el punto de vista clínico pues distintos genotipos se corresponden con distintos fenotipos, pero incluso entre los individuos afectos de la misma mutación pueden ser manifiestas las diferencias existentes en diversos aspectos clínicos de la enfermedad, por ello se reconoce por los investigadores dedicados a su estudio lo indispensable de un adecuado estudio familiar para un diagnóstico correcto, sobre todo desde el punto de vista genético. Se presenta una familia clasificada inicialmente como afecta de retinosis pigmentaria típica autosómica recesiva que luego de la pesquisa clínico familiar en cascada se reclasificó como de herencia autosómica dominante. Se evidenció la importancia del exhaustivo estudio familiar y del tratamiento quirúrgico precoz(AU)
Asunto(s)
Humanos , Adulto , Persona de Mediana Edad , Anciano , Heterogeneidad Genética , Retinitis Pigmentosa/diagnóstico , Retinitis Pigmentosa/genética , Retinitis Pigmentosa/cirugía , LinajeRESUMEN
El diagnóstico precoz, la práctica de técnicas quirúrgicas acertadas y el empleo de tecnología de avanzada constituyen bases esenciales en la terapéutica cubana de esta grave enfermedad(AU)
Asunto(s)
Oftalmología , Retinitis Pigmentosa/cirugía , HemodinámicaRESUMEN
This study presents the scientific basis of surgery for this disorder, trying to improve the metabolism of photoreceptors and retinal pigment epithelial cells using the suprachoroidal space orbital fat, which is similar to omentum, with good angiogenesis properties. This is capable of increasing neurogenic growth factors and cellular neuroactivity, trying to stop the progress of the disease and, in some patients, improving their visual function. This surgery is an alternative for people who suffer this condition globally (AU)