RESUMO
A nine years old boy presented with history of pallor and anaemia since early infancy along with neural hearing loss responding to empirical multivitamin and folic acid therapy started on basis of blood complete picture showing anaemia and megaloblastic anaemia. On investigation he was diagnosed with Thiamine Responsive Megaloblastic Anaemia, a very rare condition in our settings.
Assuntos
Anemia Megaloblástica/diagnóstico , Diabetes Mellitus/diagnóstico , Perda Auditiva Neurossensorial/tratamento farmacológico , Complexo Cetoglutarato Desidrogenase/deficiência , Criança , Perda Auditiva Neurossensorial/diagnóstico , Humanos , Complexo Cetoglutarato Desidrogenase/efeitos dos fármacos , Masculino , Tiamina/administração & dosagem , Deficiência de Tiamina/congênitoRESUMO
A 3.5 months old female infant presented with acute history of loose motions, fever and irritability for 5 days. The infant had history of respiratory distress since birth that exaggerated while feeding along with sweating and increased milk intake. Patient had poor weight gain. On investigations she was found to have anomalous origin of the left coronary artery from the left pulmonary artery (ALCAPA) with dilated cardiomyopathy and anterior wall myocardial infarction which is a very rare diagnosis in paediatrics and very rare condition diagnosed in our settings.
