RESUMO
Acute chest syndrome (ACS) is a severe complication of sickle cell disease (SCD) and one of the leading causes of mortality in SCD patients. The management of ACS is challenging and requires prompt intervention to halt clinical deterioration. With the outbreak of the Coronavirus Disease 2019 (COVID-19) pandemic, which also primarily results in acute respiratory illness, the clinical picture and treatment outcome in SCD patients with ACS remain unknown. We present a case of a 30-year-old male who came in with features of painful vaso-occlusive episode and haemolysis that later evolved to acute chest syndrome. Chest X-ray showed pneumonic changes and mild bilateral pleural effusion, and nasal Reverse Transcription-Polymerase Chain Reaction (RT-PCR) for COVID-19 test came out positive. He was managed supportively with simple transfusion, antibiotics, dexamethasone and oxygen support with a good clinical outcome. Presenting with non-specific symptoms and similar respiratory symptoms and signs, the clinical picture of COVID-19 can prove difficult to discern from that of ACS due to other causes. This report emphasizes a need for a higher index of suspicion whenever a SCD patient presents with symptoms of acute respiratory distress.
RESUMO
The presence of viral nucleic material in the circulation poses a theoretical risk of transmission through transfusion. However, little is known about the possibility of the actual transmission through transfusion or transplantation of blood products. A PROSPERO registered systematic review pooled evidence from PubMed/MEDLINE, Google Scholar and CINAHL. The search included studies on severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) transmission through human blood products. In total 537 studies were extracted, and only eight articles (1.5%) were eligible for the final analysis. A total of 14 patients received blood products from coronavirus disease-2019 (COVID-19) virus-positive donors, and six (42.9%) tested negative for COVID-19 RT-PCR for up to 14 days post-transfusion/transplantation. There were no documented clinical details on the COVID-19 test for eight (57.1%) blood products recipients. Of the eight patients, none of them developed any COVID-19-related symptoms. In conclusion, there is limited evidence of transfusion transmission of SARS-CoV-2 via human blood products. Consolidation of further evidence, as it emerges, is warranted.
RESUMO
Wiskott-Aldrich syndrome (WAS) is a rare immunodeficiency X-linked genetic disorder. It is often featured with a clinical triad of thrombocytopenia with low mean platelet volume, eczematoid dermatitis and recurrent infections. The clinical manifestation of WAS, depending on the underlying variant, shows wide heterogeneity. We present a case of a 10-month-old boy who came in with a history of recurrent fever, skin lesions since birth and episodes of bloody diarrhoea. He had severe anaemia and thrombocytopenia (with normal mean platelet volume). Genetic analysis revealed the patient to be hemizygous for a pathogenic WAS gene splice variant (NM_000377.2:c.360+1G>A). He was managed with supportive treatment and regular follow up, but died 4 months later. As it is a rare genetic disease, the diagnosis of WAS can easily be missed, especially in settings with scarce healthcare resources that do not have easy access to genetic testing. Thus, a high index of suspicion is needed when a male child presents with recurrent infections and bleeding tendencies. Plain language summary: Management challenges of a rare genetic disorder in a resource-limited country: a case report of Wiskott-Aldrich syndrome in TanzaniaWiskott-Aldrich syndrome (WAS) is a rare inherited disease that mainly affects boys. Patients will typically present with low levels of a single line of little particles of cells that clot the blood called platelets, whole-body skin rashes and recurrent infections. Nevertheless, the clinical presentation can vary between individuals. We present a case of a 10-month-old boy who came in with a history of recurrent fever, skin rash since birth and episodes of bloody diarrhoea. He had very low levels of red blood cells and platelets. Genetic analysis confirmed the patient to have WAS. He was managed with supportive treatment, followed up on a regular clinic but unfortunately died 4 months later. Being a rare genetic disease, the diagnosis of WAS can easily be missed, especially in regions with scarce healthcare resources that do not have easy access to genetic testing. Thus, doctors should suspect WAS in boys presenting with recurrent infections and bleeding problems.
