ABSTRACT
Fabry Disease (FD) is a rare X-linked recessive disease caused by mutations in the GLA gene that lead to a decrease or lack of activity of the enzyme alpha galactosyl A. This lysosomal storage disorder results in progressive damage and dysfunction of several organs and, depending on the type of mutation and gender of the patient, and it may have different manifestations. As FD is a multisystem disease with a progressive character and varying severity, the diagnosis can be challenging, especially when it comes to non-classical forms. As this is a hereditary disease, its diagnosis impacts not only the patient but also his family, making an accurate and timely diagnosis even more important. We present the case of a 59-years-old man diagnosed with non-classical FD, with previous neurological and psychiatric complaints, who was admitted to the Emergency Department (ED) with a generalized tonic-clonic seizure that required orotracheal intubation for airway protection and transferred to an Intensive Care Unit (ICU).
ABSTRACT
Retinitis is the most frequent manifestation of Cytomegalovirus (CMV) disease in patients with HIV infection. The virus reaches the retina by hematogenous spread, therefore patients with serum CMV load are at increased risk of developing CMV retinitis. The evolution of retinitis without specific treatment causes irreversible visual loss. Proper treatment is essential for controlling the disease progression, prevention of relapses, and contralateral eye involvement. This report describes a 56-year-old white male who started a progressive decrease in visual acuity (VA) of the right eye, without pain or inflammatory signs. Initial fundoscopy identified a dispersed preretinal hemorrhage and yellowish exudates. For the hypothesis of CMV retinitis, serology for HIV was requested and the subsequent result was positive. Other opportunistic infections, as well as manifestations of CMV infection in other organs, were ruled out. The patient was discharged on valganciclovir and highly active antiretroviral therapy (HAART) with progressive improvement in retinal changes, but without full recovery from VA due to chronic vitritis and tractional retinal detachment. Slow recovery of lymphocyte populations and sustained decrease in viral load were observed. CMV retinitis as an initial and sole manifestation of HIV infection is rare and requires screening. The importance of this case lies in its rarity, since CMV retinitis was the only manifestation of CMV infection and the only opportunistic infection in this patient. Early diagnosis and initiation of targeted therapy decrease the morbidity associated with this infection.
