Sickle cell disease associated with thalassemia; description of a rare mutation.

Sickle cell disease (SCD) is a common hemoglobinopathy, secondary to alterations in the ß globin chain, resulting in an abnormal hemoglobin variant named as hemoglobin S. These disorders show a wide phenotypical spectrum, and the prevalence of these disorders has significantly changed over the time because of multiple factors such as migration. We report a case of a 17-year-old black male, born in Gambia, diagnosed with sickle cell disease, who presented an associated mutation only described in a Japanese family (Oshima et al., 1996).

Hemorrhagic cystitis: A successful outcome for a challenging complication in stem cell transplant.

Hemorrhagic cystitis (HC) secondary to BK polyomavirus (BKPyV) is a frequent complication related to allogenic stem cell transplantation. With an important morbidity and mortality, this disease doesn't have a stablished standard treatment or prophylaxis strategies. At this moment, the supportive therapies approved to treat included hyperhydration, forced diuresis and transfusion support. Cidofovir is a nucleotide analog of deoxycytidine monophosphate against DNA viruses and it has been described for the treatment of BKPyV-HC, but at this moment, is not a front-line therapy. We report a successful case after the use of Cidofovir without Probenecid. No adverse effect was developed under the treatment, and after 4 weeks of treatment, the patient achieved an excellent response.

Neurosarcoidosis presenting with isolated intracranial mass lesion and communicating hydrocephalus / Neurosarcoidosis con lesión de tipo masa intracraneal aislada e hidrocefalia comunicante

Isolated neurosarcoidosis is a very rare disease, which makes up 5-15% of sarcoidosis cases. Hydrocephalus is a rare clinical feature with a prevalence of 6% among these patients. Considering neurosarcoidosis in the differential diagnosis of a unique parenquimal mass lesion could help in the early identification of this disease. We report the case of a 27-year-old African man who developed with a sole intracranial mass lesion mimicking radiologically a glioma, which finally came out as an isolated neurosarcoidosis. There is a difficulty in diagnosis when isolated neurosarcoidosis appears. In addition, the low prevalence of the disease entails a not standardized medical treatment. Natural outcome is poor even when hydrocephalus is resolved. Multimodal treatments including complete pharmacological treatment do not seem to assure a better outcome in these patients until date

La neurosarcoidosis cerebral aislada es una enfermedad muy rara, que representa entre el 5-15% de los casos de sarcoidosis. La hidrocefalia es una característica clínica poco frecuente, con una prevalencia del 6% entre estos pacientes. Considerar la neurosarcoidosis en el diagnóstico diferencial de una lesión de tipo masa parenquimatosa única puede ayudar en la identificación temprana de esta enfermedad. Presentamos el caso de un varón africano de 27 años de edad, que presenta una lesión de tipo masa única intracraneal que simulaba radiológicamente un glioma, y que finalmente se reveló como una neurosarcoidosis aislada. Es difícil establecer un diagnóstico cuando aparece una neurosarcoidosis cerebral aislada. Además, la baja prevalencia de la enfermedad conlleva un tratamiento médico no estandarizado. El pronóstico natural es malo, incluso cuando se resuelve la hidrocefalia. Hasta la fecha, los tratamientos multimodales, incluido el tratamiento farmacológico completo, no parecen asegurar un mejor resultado en estos pacientes

Neurosarcoidosis presenting with isolated intracranial mass lesion and communicating hydrocephalus.

Isolated neurosarcoidosis is a very rare disease, which makes up 5-15% of sarcoidosis cases. Hydrocephalus is a rare clinical feature with a prevalence of 6% among these patients. Considering neurosarcoidosis in the differential diagnosis of a unique parenquimal mass lesion could help in the early identification of this disease. We report the case of a 27-year-old African man who developed with a sole intracranial mass lesion mimicking radiologically a glioma, which finally came out as an isolated neurosarcoidosis. There is a difficulty in diagnosis when isolated neurosarcoidosis appears. In addition, the low prevalence of the disease entails a not standardized medical treatment. Natural outcome is poor even when hydrocephalus is resolved. Multimodal treatments including complete pharmacological treatment do not seem to assure a better outcome in these patients until date.