ABSTRACT
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus and progressive sensorineural deafness. We report the cases of two infants, aged 4 and 5 months, hospitalized for diabetic ketoacidosis requiring insulin therapy. Laboratory tests revealed megaloblasic anemia, thrombocytopenia and normal thiamine level. Neurosensorial investigations showed bilateral deafness and ophthalmic involvement. Treatment with oral thiamine normalized hematological disorders and controlled diabetes; however, thiamine therapy had no impact on neurosensorial disorders.
Subject(s)
Anemia, Megaloblastic/diagnosis , Anemia, Megaloblastic/genetics , Diabetic Ketoacidosis/diagnosis , Thiamine/therapeutic use , Anemia, Megaloblastic/drug therapy , Blood Cell Count , Bone Marrow Cells/pathology , Diabetes Mellitus/drug therapy , Diabetes Mellitus/genetics , Diabetic Ketoacidosis/drug therapy , Diabetic Ketoacidosis/genetics , Female , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/genetics , Humans , Infant , Insulin/therapeutic use , Male , Membrane Transport Proteins/genetics , Mutation , Thiamine/blood , Thrombocytopenia/diagnosisSubject(s)
Esophagus , Foreign Bodies/complications , Gastrointestinal Hemorrhage/etiology , Adolescent , Chronic Disease , Humans , MaleABSTRACT
Eosinophilic pneumonias are a group of heterogeneous disorders, rarely reported in children. We describe a case of a 12-year-old boy hospitalized for an acute febrile respiratory failure. Chest radiograph showed bilateral diffuse infiltrates. A pulmonary eosinophilic infiltration was confirmed by a major blood eosinophilia at 33,800/mm(3) associated with increased eosinophilic rate (90%) on bronchoalveolar lavage fluid. Outcome improved markedly with mechanical ventilation and corticosteroid therapy. Laboratory screenings for parasitic or allergic disease were negative. Bone marrow smear and medullar caryotype eliminated an acute leukemia. No further visceral eosinophilic injury were found. Acute eosinophilic pneumonia should be included in etiological investigation of patients with acute respiratory distress syndrome (ARDS) even in young subjects.