ABSTRACT
Background: Septo-optic dysplasia, also known as de Morsier syndrome, is a disorder of brain development characterized by optic nerve hypoplasia, hypopituitarism, and midline brain defects.Materials and Methods: Single retrospective case report.Results: An infant born at 38 5/7 weeks gestation age weighing 3125 g developed respiratory distress shortly after birth. Systemic findings included myocardial dysfunction, hypopituitarism, feeding intolerance, microphallus, and dysmorphic features. Eye examination revealed tractional retinal detachments and optic nerve hypoplasia. In addition, peripheral non-perfusion and peripheral neovascularization were consistent with Familial Exudative Vitreoretinopathy (FEVR) phenotype. MRI showed hypoplastic optic nerves, ectopic posterior pituitary with hypoplastic pituitary infundibulum, and slightly thin corpus callosum, diagnostic of septo-optic dysplasia. Genetic testing revealed no pathogenic variants and two variants of uncertain significance.Conclusion: FEVR findings can be associated with septo-optic dysplasia and may point to an etiologic connection between neural development and subsequent vascular development.
Subject(s)
Familial Exudative Vitreoretinopathies/complications , Septo-Optic Dysplasia/etiology , Septo-Optic Dysplasia/pathology , Humans , Infant, Newborn , Phenotype , Prognosis , Retrospective StudiesABSTRACT
AIM: To report a large series of children having Nd:YAG laser capsulotomy in the operating room using the lateral decubitus position. METHODS: Medical records of children who underwent Nd:YAG laser capsulotomy in the operating room at Ann & Robert H. Lurie Children's Hospital of Chicago between September 2008 and April 2017 were reviewed. Induction of general anesthesia and intubation was performed in the supine position after which the patient was placed in lateral decubitus position. The Nd:YAG laser capsulotomy was performed using a standard protocol. At the completion of the procedure, the patient was turned back into the supine position and extubated. RESULTS: This study included 87 eyes of 60 patients. Patient's age ranged from 1 to 18y (mean 6.4±4.1y). In most cases (84/87, 97%), the procedure was performed under general anesthesia. In all cases, good focus on the membrane was achieved, and the procedure was performed successfully. There were no intraoperative ocular or anesthesia-related complications. CONCLUSION: When performing Nd:YAG laser capsulotomy in the operating room, the lateral decubitus position allows an easy and safe approach without the risk of potentially devastating complications that have been associated with the previously described sitting and prone positions.
