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Relapse of rare diseases during COVID-19 pandemic: bicytopenia in an adult patient with thiamine-responsive megaloblastic anaemia.
Nouira, Nourelhouda; Mansouri, Rawdha; Tlili, Rami; Bhouri, Ines; Sfaxi, Souha; Chtourou, Dorra; Cheikh, Maamoun Ben.
Afiliación
  • Nouira N; Mongi Slim Academic Hospital, Emergency Department, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunisia.
  • Mansouri R; Aziza Othmana Academic Hospital, Hematology Department, Tunisia.
  • Tlili R; Cardiology Department, Mongi Slim Academic Hospital, Tunisia.
  • Bhouri I; Mongi Slim Academic Hospital, Emergency Department, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunisia.
  • Sfaxi S; Mongi Slim Academic Hospital, Emergency Department, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunisia.
  • Chtourou D; Mongi Slim Academic Hospital, Emergency Department, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunisia.
  • Cheikh MB; Mongi Slim Academic Hospital, Emergency Department, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunisia.
Pan Afr Med J ; 35(Suppl 2): 139, 2020.
Article en En | MEDLINE | ID: mdl-33193954
Thiamine-responsive megaloblastic anaemia (TRMA) is a syndrome associated with megaloblastic anaemia, diabetes mellitus and sensorineural deafness, due to mutations in the SLC19A2gene, which codes for a thiamine carrier protein. Oral thiamine supplementation is the main treatment. We report the case of a 19-year-old man known for TRMA, who presented in the emergency department with bicytopenia (haemoglobin 5,4 g/dL, thrombocytes 38×109/L) revealed by dyspnea and chest pain. Investigations excluded bleeding, hemolysis, coagulopathy and iron deficiencies. A recent infection and an acute coronary syndrome have also been eliminated. We later found out that thiamine treatment had been discontinued three months before, due to general confinement in Tunisia during the COVID-19 pandemic. Parenteral administration of 100 mg of thiamine daily resulted in the recovery of haematopoiesis within three weeks.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Neumonía Viral / Deficiencia de Tiamina / Trombocitopenia / Infecciones por Coronavirus / Diabetes Mellitus / Pandemias / Betacoronavirus / Pérdida Auditiva Sensorineural / Anemia Megaloblástica Tipo de estudio: Diagnostic_studies / Etiology_studies País/Región como asunto: Africa Idioma: En Revista: Pan Afr Med J Año: 2020 Tipo del documento: Article País de afiliación: Túnez

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Neumonía Viral / Deficiencia de Tiamina / Trombocitopenia / Infecciones por Coronavirus / Diabetes Mellitus / Pandemias / Betacoronavirus / Pérdida Auditiva Sensorineural / Anemia Megaloblástica Tipo de estudio: Diagnostic_studies / Etiology_studies País/Región como asunto: Africa Idioma: En Revista: Pan Afr Med J Año: 2020 Tipo del documento: Article País de afiliación: Túnez