Congenital aniridia is a rare condition related to a deficiency in the PAX6 gene expression, which may occur as a result of a family inheritance or a sporadic occurrence. Additionally, this condition may occur as an isolated ocular phenotype or in association with a systemic syndrome. The most common abnormality is iris hypoplasia; however, a panocular disease which also affects the cornea, anterior chamber of the eye, lens, and the posterior segment with presence of optic nerve and foveal hypoplasia is also evident. The development of keratopathy, glaucoma, and cataract is frequent and its presence has implications in the patient's visual acuity. Managing aniridia is challenging since the focus is on treating the previously mentioned disorders, and the outcomes are often disappointing. In this paper, we shall review the epidemiology, pathophysiology, and clinical characteristics of patients with aniridia. We shall also make a review of the therapeutic options for the several conditions affecting this syndrome and consider the genetics and prognostic factors.
Wide neck intracranial aneurysms are often difficult to treat with coiling alone, and sophisticated techniques such as balloon-assisted coiling, stent-assisted coiling, flow-diversion, or intrasaccular flow-disruption are sometimes required. This technical note reports the endovascular treatment of a recurrent middle cerebral bifurcation aneurysm by remodeling technique followed by flow-diverter (Silk Vista Baby) deployment through a remodeling balloon (double lumen balloon Eclipse 2L).
Typical distal symptoms in anti–myelin-associated glycoprotein (anti-MAG) neuropathy are believed to be due to the binding of immunoglobulin M to distal nerve terminals. We describe the case of a 56-year-old man diagnosed with immunoglobulin M anti-MAG neuropathy in the setting of Waldenström macroglobulinemia, which developed acute neurological worsening presenting as cauda equina syndrome. Lumbosacral magnetic resonance imaging revealed enlarged nerve roots with diffuse heterogeneous gadolinium enhancement. Treatment with steroids resulted in substantial clinical improvement. Increased recognition of atypical presentations may lead to improved characterization of anti-MAG neuropathy as a more widespread disease.
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