ABSTRACT
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.
Subject(s)
Anemia, Megaloblastic/blood , Betacoronavirus , Coronavirus Infections/epidemiology , Diabetes Mellitus/blood , Hearing Loss, Sensorineural/blood , Pandemics , Pneumonia, Viral/epidemiology , Thiamine Deficiency/congenital , Thrombocytopenia/etiology , Acute Coronary Syndrome/diagnosis , Anemia, Megaloblastic/drug therapy , Anemia, Megaloblastic/physiopathology , COVID-19 , Chest Pain/etiology , Diabetes Mellitus/drug therapy , Diabetes Mellitus/physiopathology , Diagnosis, Differential , Glycated Hemoglobin/analysis , Health Services Accessibility , Hearing Loss, Sensorineural/drug therapy , Hearing Loss, Sensorineural/physiopathology , Hemoglobins/analysis , Humans , Male , Pericardial Effusion/diagnostic imaging , Pericardial Effusion/etiology , Recurrence , SARS-CoV-2 , Thiamine/supply & distribution , Thiamine/therapeutic use , Thiamine Deficiency/blood , Thiamine Deficiency/drug therapy , Thiamine Deficiency/physiopathology , Tunisia , Young AdultABSTRACT
Klinefelter syndrome is the most common congenital abnormality causing primary hypogonadism and predisposing to a state of hypercoagulability. We report the case of a 37-year-old man, of Algerian nationality, diagnosed with Klinefelter syndrome admitted to the hospital via the emergency room for acute chest pain and dyspnea. The patient arrived in Tunisia 36 hours ago. On admission, body temperature was 38.2°C, blood pressure, pulse and respiratory rate were 130/70 mmHg, 120/minute and 26/minute, respectively. He had an oxygen saturation of 87% in room air. His electrocardiography revealed a complete right bundle-branch block, chest X-Ray was normal. In front of the clinical presentation and the origin of the patient coming from an endemic country, COVID-19 infection was suspected but ruled out by pharyngeal swabs testing negative by real-time reverse-transcription polymerase chain reaction test and massive pulmonary embolism was diagnosed from his chest computed tomography images. The symptoms improved with anticoagulation treatment.