Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.

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.

Modified Reverse Hatchet Flap for Ablepharon-Macrostomia Syndrome.

Ablepharon-macrostomia syndrome is a rare disorder characterized by TWIST2 mutations and anterior lamellar dysgenesis. Timely intervention is critical to prevent exposure keratopathy, corneal ulceration, and permanent vision loss. We report a novel approach to multiplanar eyelid reconstruction in ablepharon-macrostomia syndrome involving use of a modified reverse hatchet flap in 1 lower eyelid along with division at the eyelid margin, recession of the eyelid retractors in conjunction with preputial skin grafting for anterior lamellar restoration in the other 3 eyelids.

Cleft Lip With Ankyloblepharon Filiforme Adnatum: A Case Report.

Ankyloblepharon filiforme adnatum (AFA) is a rare, benign congenital anomaly. Notably, it is characterized by the adhesion of the ciliary edges of the upper and lower eyelids at the trabecular line. AFA is usually a solitary malformation of sporadic occurrence; however, it can occur in conjunction with other congenital diseases. Herein, we report a case of cleft lip with AFA. A patient was referred to the ophthalmology department of our hospital. The ophthalmic diagnosis was AFA in both the eyes. The left eye was observed to have a fibrous adhesion in the center, and she underwent surgery to excise the fibrous adhesion of tissue with scissors. The right eye was observed to have a fibrous adhesion in the external canthus and was excised during lip plasty. After surgery, her eyes were able to fully open, and no other apparent disease was diagnosed. AFA is thought to be caused by an ectodermal-derived developmental abnormality. Notably, cases of AFA with a cleft lip are rare. Diagnosis and surgery should be performed promptly to minimize any risk of amblyopia and for the early detection of congenital diseases, including glaucoma.

Surgical approach to and morphology of visually significant persistent pupillary membranes.

PURPOSE: To characterize the morphology of persistent pupillary membranes (PPMs) in pediatric patients and explore the corresponding surgical approaches. SETTING: Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China. DESIGN: Prospective observational study. METHODS: Consecutive pediatric patients with PPMs who underwent surgery from April 2020 to July 2022 were included. PPM morphology was assessed and categorized according to its anatomic relationship with crystalline lens and distribution of iris strands. The surgical approaches for different morphologies of PPMs were described in detail. The visual outcome and operation-related complications were recorded. RESULTS: 31 eyes from 19 patients were included with the mean age of 7.2 years. 3 morphological variants of PPMs were observed: type I (51.6%, 16/31), a spider-like appearance and no adhesion to the anterior lens capsule (ALC); type II (38.7%, 12/31), a loose central adherence to the ALC and partially thick iris strands attached to the iris collarette; type III (9.7%, 3/31), a tight central adherence to the ALC and only silk-like iris strands. Surgeries were performed with a natural pupil size in type I, while dilated pupil in the other types. The adhesions between PPM and the ALC were separated by viscoelastic injection in type II and by discission needles in type III. The corrected distance visual acuity was significantly improved from 0.34 ± 0.18 logMAR preoperatively to 0.17 ± 0.09 logMAR postoperatively ( P < .001). No operation-related complications were observed during 9.5-month follow-up. CONCLUSIONS: PPMs were categorized into 3 types according to their different morphologies, which helped to determine the best surgical strategy.

Surgical management of a case of double optic disc pits with maculopathy.

BACKGROUND: Double optic disc pit maculopathy is a rare entity. It can be difficult to manage because of excessive leakage and chronic maculopathy. PURPOSE: To describe surgical management in a case of double optic disc pits with maculopathy. SYNOPSIS: A 42-year-old male presented with double optic disc pits with macular detachment in the left eye. The best-corrected visual acuity (BCVA) was 20/60, N12. Preoperative OCT showed the presence of two disc pits. The macular region had large retinoschisis and subretinal fluid (SRF) with a central foveal thickness of 879 microns and loss of the ellipsoid zone. A shallow communication from the temporal aspect of the disc to the submacular area was also noted. Among the options of observation, laser photocoagulation, and surgery, the patient opted for surgical management. SURGICAL TECHNIQUE: A standard-3 port 23-gauge pars plana vitrectomy was done. After staining the ILM with brilliant blue, ILM peeling was done with the help of forceps and Finesse loop. ILM flaps were inverted over to cover the optic disc pits and sealed with a drop of fibrin glue. Next, 20% SF6 gas was used for tamponade. Pre- and post-surgery parameters such as visual acuity and OCT were evaluated. POSTOPERATIVE EVALUATION: After 6 weeks, left eye BCVA was 20/40 with OCT showing reduced SRF and reduced intraretinal schisis with a foveal thickness of 546 microns. At 3 months of follow-up, the vision in the left eye had improved to 20/30 with further reduction in the retinoschisis and foveal thickness of 482 microns. HIGHLIGHTS: In this interesting case, we demonstrate a unique way of sealing the defect surgically by vitrectomy and inverted ILM flap with fibrin glue over the disc pits. Despite sealing the maculopathy is slow to resolve. VIDEO LINK: https://youtu.be/s9nY5UPe1s4.

Successful resolution of serous macular detachment following glaucoma-filtering surgery alone for acquired optic disc pit maculopathy.

PURPOSE: To describe a case of acquired glaucomatous optic disc pit-related maculopathy successfully treated with glaucoma filtering surgery alone. CASE DESCRIPTION: A 67-year-old male was diagnosed with advanced primary open angle glaucoma in both eyes, with a cup: disc ratio of 0.85 in the right eye and 0.95 in the left eye. Visual acuity at presentation was 20/60, and intraocular pressure was 14 mm Hg in the left eye. The fundus of the left eye revealed a serous macular retinal detachment due to an acquired optic disc pit. RESULTS: The left eye of the patient underwent combined cataract and glaucoma filtering surgery. The serous macular detachment resolved completely 15 months after surgery, with a documented visual acuity of 20/40 and intraocular pressure of 10 mm Hg without the use of additional antiglaucoma medications. There was no recurrence of serous macular detachment even after the two-year follow-up visit. CONCLUSION: This case demonstrates that controlling intraocular pressure alone resulted in complete resolution of serous macular detachment in acquired optic disc pit maculopathy without the need for pars plana vitrectomy.

Anestesia total intravenosa libre de opioides en un paciente con síndrome de Joubert: caso clínico / Opioid free total intravenous anesthesia in Joubert syndrome: Case report

Joubert syndrome (JS) is a rare autosomal recessive disorder characterized by abnormal eye movements, respiratory pattern abnormalities, anatomical airway alterations, mental retardation and hypoplasia/aplasia of the cerebellar vermis confirmed by magnetic resonance imaging. This case report describes the successful management of a patient with JS operated of cholesteatoma under 100% opioid-free total intravenous general anaesthesia. We also provide a brief review of JS, its anaesthetic implications and opioid-free anaesthesia (OFA) technique.

El síndrome de Joubert (SJ) es una enfermedad autosómica recesiva poco frecuente caracterizada por trastornos oculares, respiratorios, alteraciones anatómicas de la vía aérea, retraso mental e hipoplasia/aplasia del vermis cerebeloso constatada mediante resonancia magnética. Presentamos un caso exitoso de paciente con SJ operado de colesteatoma bajo anestesia general endovenosa total 100% libre de opioides. Asimismo, realizamos una breve revisión del SJ, sus implicaciones anestésicas y de la técnica de anestesia libre de opioides.

Inverted internal limiting membrane flap for the management of optic disc pit maculopathy / Técnica do flap invertido da membrana limitante interna para o manejo da maculopatia causada pela fosseta do disco óptico

ABSTRACT Optic disc pit is a rare congenital anomaly that can cause serous macular detachment. It has no universally accepted single treatment. Recently, several investigators have performed new procedures to directly seal the pit. Herein, we report a case showing a promising method for optic pit maculopathy surgical treatment. We created an inverted internal limiting membrane flap and fold it over the pit to promote barrier in order to stop further fluid accumulation. Gradual absorption of subretinal fluid was observed over 12 months of follow-up. Optical coherence tomography can demonstrate internal limiting membrane folded over the pit and progressive subretinal fluid resolution. This technique resulted in a satisfactory anatomic outcome with good functional improvement in the best-corrected visual acuity.

RESUMO A fosseta do disco óptico é uma rara anomalia con gênita que pode causar descolamento de retina seroso na mácula. Não há um tratamento cirúrgico padrão universalmente aceito. Recentemente, cirurgiões têm realizado procedimentos novos que visam selar o buraco diretamente. Esse caso clínico mostra um método promissor para o tratamento cirúrgico da maculopatia causada pela fosseta do disco. Optamos por criar um flap invertido com a membrana limitante interna, dobrando-o sobre a fosseta para promover uma barreira, impedindo o acúmulo de fluido. A absorção gradual do líquido subretiniano foi observada ao longo de 12 meses de acompanhamento. Imagens de tomografia de coerência óptica podem demonstrar a membrana limitante interna dobrada sobre a fosseta e a resolução progressiva do fluido subretiniano. Esta técnica resultou em um resultado anatômico satisfatório com boa melhora funcional na acuidade visual.

Laser topoguiado como redutor de aberrações ópticas pós ceratotomia radial e LIO multifocal / Topoguided laser as a reducer of optical aberrations after radial keratotomy and multifocal LIO

Resumo A cirurgia de catarata com implante de lente intra-ocular é uma das cirurgias mais realizadas no mundo e, atualmente, os pacientes que se submetem a essa cirurgia podem utilizar o implante com lente intraocular (LIO) multifocal como alternativa ao uso de óculos. Um grande desafio para o cirurgião são os pacientes já submetidos previamente a ceratotomia radial (RK), pois além de terem um cálculo biométrico mais desafiador, apresentam importantes aberrações ópticas corneanas, sendo uma contra-indicação para o uso de lentes multifocais para a maioria dos oftalmologistas. Neste artigo, relatamos o caso de uma paciente que foi submetida, na juventude, a uma RK e passou a referir importante incômodo visual após a correção de catarata com facectomia e implante de LIO multifocal. Esta paciente foi submetida a uma ceratectomia fotorrefrativa (PRK) para diminuir as irregularidades da córnea com boa evolução clínica e resultado visual satisfatório. Esse caso chama a atenção para a alternativa do excimer laser topoguiado em casos semelhantes e alerta para o risco do uso desse tipo de lente em córneas irregulares.

Abstract Cataract surgery with intraocular lens implantation is one of the most commonly performed surgeries in the world and, currently, patients who undergo this surgery can use the multifocal intraocular lens (IOL) implant as an alternative to wearing glasses. A great challenge for the surgeon are patients who have previously undergone radial keratotomy (RK), because in addition to having a more challenging biometric calculation, they also have important corneal optical aberrations, being a contraindication for the use of multifocal lenses for most patients. ophthalmologists. In this article, we report the case of a patient who underwent a RK in her youth and started to report an important visual discomfort after cataract correction with facectomy and multifocal IOL implantation. This patient underwent a photorefractive keratectomy (PRK) to reduce corneal irregularities with good clinical evolution and satisfactory visual result. This case draws attention to the alternative of topography-guided laser excimer in similar cases and warns of the risk of using this type of lens in irregular corneas.

Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease / Tricotiodistrofia: relato de caso de glaucoma infantil associado a doença sistémica não adquirida

ABSTRACT Trichothiodystrophy belongs to a group of rare genetic diseases characterized by DNA repair anomalies. Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. We report a case of childhood glaucoma in a patient with trichothiodystrophy who underwent trabeculectomy in the left eye. To our knowledge, this is the first clinical report of childhood glaucoma associated with trichothiodystrophy.

RESUMO A tricotiodistrofia pertence a um grupo de doenças genéticas raras caracterizadas por anomalias da reparação do DNA. Manifestações oculares podem ocorrer em 50% dos casos, incluindo catarata, erros refrativos, estrabismo, microcórnea, microftalmia, olho seco e alterações maculares pigmentares. Relatamos um caso de glaucoma infantil em um paciente com tricotiodistrofia submetido à trabeculectomia no olho esquerdo. No nosso conhecimento, este é o primeiro caso descrito de glaucoma infantil associado à tricotiodistrofia.

Tratamento de ptose palpebral congênita pela técnica de Lester Jones / Treatment of congenital ptosis by using the Lester Jones technique

A ptose palpebral ou blefaroptose caracteriza-se pela disfunção, ou inabilidade do paciente em realizar a abertura da fenda palpebral de maneira normal. Geralmente é decorrente do acometimento do músculo levantador da pálpebra; a forma congênita ocorre em 60% a 70%. No presente trabalho é descrito um caso de ptose palpebral congênita moderada em uma paciente de nove anos, com boa função do músculo levantador da pálpebra, em olho esquerdo. A paciente foi submetida a tratamento cirúrgico pela técnica de Lester Jones, indicada nos casos de ptose de grau moderado, apresentando um resultado estético e funcional satisfatório.

Palpebral ptosis or blepharoptosis is characterized by the dysfunction or inability of the patient to normally open the palpebral fissure. Usually, it is due to the involvement of the eyelid levator muscle. The congenital form occurs in 60%-70% of cases. In this study, we describe a case of moderate congenital palpebral ptosis in a 9-year-old patient who presented with a good eyelid levator muscle function in the left eye. The patient underwent surgical treatment with the Lester Jones technique, as indicated for cases of moderate ptosis, and achieved satisfactory aesthetic and functional results.

Anquilobléfaron filiforme adherente y otras malformaciones / Ankyloblepharon filiforme adnatum and other malformations

Se realizó un examen físico a un recién nacido con malformaciones presentadas en el momento del parto, de un embarazo valioso de la raza negra, presentó los párpados superior e inferior de ambos ojos unidos por finas bandas en número variable que impedían la separación y los movimientos normales. Además asociado a labio leporino y hendidura palatina. Luego de descartar otras malformaciones congénitas, fue intervenido para reparar la malformación. Su estado actual es normal, después de la recanalización de sus otras anomalías

Síndrome de Ascher: aspectos clínicos e terapêuticos desta rara deformidade da face / Ascher syndrome: clinical and therapeutic aspects of this rare facial deformity

Síndrome de Ascher é uma entidade rara, benigna, com poucos casos descritos e de etiologia ainda desconhecida. clinicamente se caracteriza por tríade composta de lábio duplo superior, bleforacalásio e bócio atóxico. Relatas o caso de um paciente com lábio duplo e blefarocalásio, disgnosticamos como portador da síndrome de Ascher incompleta, e discutimos as modalidades terapêuticas utilizadas. O tratamento da pálpebra superior foi realizado por meio de uma ressecção em fuso da pele palpebral superior e excisão em cunha do lábio superior, na transição do vermelhão seco com o úmido.

Efecto en el patrón topográfico postoperatorio con y sin secado transoperatorio del lecho estromal en Lasik / Effect of \"in site\" stromal transoperative drines in postoperative topographic patterns after Lasik

Se estudiaron un total de 60 ojos con diagnóstico de miopía con equivalente esférico mayor o igual a 8 DP y menor o igual a 11 DP, los cuales fueron sometidos a queratectomía fotorrefractiva con técnica de Lasik utilizando el equipo láser excimer Technolas 217 de Chiron y el microqueratomo automatizado Hansatome de Chiron, dividiéndose en dos grupos, a uno de los cuales se le efectuó secado transoperatorio del lecho estromal al 50 por ciento del tratamiento con esponja de merocel, y al segundo grupo no. Se practicaron estudios topográficos de elevación (Orbsacan) preoperatoria, a las 24 horas y 7 días de postoperatorio, se empleó como parámetro de evaluación del patrón de irregularidades el mapa de mejor adaptación a una esfera, tomando como referencia la esfera preoperatoria de base

Endotropia recidivante: presentación de dos casos / Recurrence esotropia: Presentation two cases

Se presentan dos casos de pacientes adultos, con historia de estrabismo desde la infancia y sin antecedentes de tratamiento. Fueron operados con diagnóstico de endotropia posicional inervacional primaria, con buen resultado inmediato y recurrencia de la endotropia en el postoperatorio tardío. Se determinó que la causa de la recidiva era una hipermetropía mal valorada en el estudio clínico inicial. Se presenta la revisión de la bibliografía y el análisis de los factores que condicionan un mal resultado en el tratamiento quirúrgico de la endotropia.

Discoveries and methods in plastic surgery

This book is a compilation of several articles published over many years. The articles deal with three surgical methods and several techniques which I have devised. These discoveries and their technical publication were not the result of chance but of a methodical and orderly system of work about which I shall give and account. This book has been written based on the pre-Columbian cultures of South America. From these cultures peoples and nations have come about, grown, become strengthened and flourished, intellectually and culturally. All the chapters in the book describe methods and discoveries made and developed by us in South American hospitals. Most chapters include a photograph of a pre-Columbian ceramic figure as prologue, each one with its own description. The figure on the cover shows facial paralysis and is described in the first page of the book.

Guía de atención ocular / Guide of attention ocular

Manual que tiene como objetivo proporcionar una información general sobre la salud ocular y va dirigido a los trabajadores de la salud