Atypical neuronal ceroid lipofuscinosis type 2 (CLN2 disease): A case report

Abstract

Ocular manifestations are observed in 25% of patients with Takayasu's arteritis. Its signs and symptoms can be very variable. The case is presented of a 41-year-old woman with progressive vision loss in her right eye secondary to ischaemic retinal arterial occlusion. After a systematic study, a PPD skin test compatible with tuberculosis was found to be the only alteration. After ruling out other causes, and based on the initial suspicion of tuberculous retinal vasculitis, treatment was started with antimicrobial agents and systemic corticosteroids, without any therapeutic response. Eighteen months later, the patient developed acute kidney failure, secondary to right renal artery stenosis. The CT-angiography revealed a thickening of the aortic arch and its branches, and Takayasuś arteritis was finally diagnosed. Therefore, emphasis is made on the importance of the ophthalmologist in the diagnosis of Takayasuś arteritis, in which its ophthalmological manifestations can be an early sign of the disease.El 25% de los pacientes con arteritis de Takayasu presentan manifestaciones oculares siendo el modo de presentación variable. Presentamos una mujer de 41 años de edad con pérdida progresiva de la visión en un ojo secundaria a una oclusión arterial retiniana isquémica. Habiendo descartado otras causas y con PPD sospechosa de tuberculosis, se consideró diagnóstico presuntivo TBC. Se inició tratamiento anti-infeccioso y anti-inflamatorio sistémico, sin respuesta terapéutica. A los 18 meses, se produjo un fallo renal agudo secundario a la estenosis de la arteria renal derecha. El angio-TC reveló un engrosamiento del arco aórtico y de sus ramas, diagnosticándose finalmente arteritis de Takayasu. Por lo tanto, se enfatiza la importancia del médico oftalmólogo en el diagnóstico de la enfermedad cuya manifestación oftalmológica potencialmente asociada, se puede presentar de forma inicial y tempranamente.