Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: a case report highlighting the role of multimodal imaging and a brief review of the literature

Purpose: The purpose of this paper is to present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations. Methods: A 37-year-old woman with diagnosis of SWS presented to our unit. The patient had been treated with pulsed dye laser for bilateral nevus flammeus and had right leptomeningeal angiomatosis. She had glaucoma, but ultrasound biomicroscopy did not show anterior chamber or ciliary body alterations. Results: Enhanced depth imaging (EDI) spectral domain optical coherence tomography (SD-OCT) showed bilateral diffuse choroidal hemangiomas in both eyes with choroidal thickness above 1000 μm. B-scan ultrasound examination showed diffuse choroidal hemangioma in both eyes, with a choroidal thickness of 1.53 mm and 1.94 mm in the right and left eye (RE, LE), respectively. Peripapillary retinal nerve fiber evaluation showed thinning of the retinal nerve fiber layer in both eyes. Conclusions: This report highlights multimodal imaging techniques for the critical assessment of patients with SWS, especially in rare cases with bilateral choroidal hemangioma of the choroid. Novel imaging modalities enable optimal management and follow-up of rare conditions, and our case adds further evidence to the existing literature

The 'idioglossia' cases of the 1890s and the clinical investigation and treatment of developmental language impairment

The early history of developmental language impairment in late 19th century Britain is considered through the critical examination of three papers appearing in 1891 by Hadden, Golding-Bird and Hale White, and Taylor. They represent innovative investigations of child language disorders whose themes and concerns are resonant today. The term ‘idioglossia’ was coined to identify this new impairment and reflected the belief by some that these children spoke an invented language. Rather than viewing these children as having some constitutional deficiency, these 19th century physicians were novel in insisting that children with language impairments merited extensive clinical investigation and treatment. Their case descriptions and the subsequent debates regarding classification and prognosis are reviewed. Further consideration is given to how these cases led to questioning the relation between language and speech and other aspects of child development and disorder. Reflection on the early sources of clinical categories provides a new perspective on our current formulations for variation in developmental language trajectories

Tau, prions and Aβ: the triad of neurodegeneration

This article highlights the features that connect prion diseases with other cerebral amyloidoses and how these relate to neurodegeneration, with focus on tau phosphorylation. It also discusses similarities between prion disease and Alzheimer’s disease: mechanisms of amyloid formation, neurotoxicity, pathways involved in triggering tau phosphorylation, links to cell cycle pathways and neuronal apoptosis. We review previous evidence of prion diseases triggering hyperphosphorylation of tau, and complement these findings with cases from our collection of genetic, sporadic and transmitted forms of prion diseases. This includes the novel finding that tau phosphorylation consistently occurs in sporadic CJD, in the absence of amyloid plaques