title: Megaloblastic anaemia in infancy or early childhood and diabetes as leading symptoms of the TRMA syndrome.
abstract: Diabetes mellitus may occur in children and adolescents as an independent disease, most frequently as autoimmune type 1 diabetes, or can coexist with other abnormalities. If diabetes coincides with other disorders occurring sequentially, a syndromic form of monogenic diabetes should be suspected. Thiamine-responsive megaloblastic anaemia (TRMA) syndrome is an example of a rare form of monogenic diabetes coexisting with anaemia and deafness. In the paper, we discuss clinical features and treatment of TRMA syndrome - a unique syndromic form of vitamin-dependent monogenic diabetes. The review might be useful in establishing a prompt diagnosis and initiating optimal management in children and adolescents with the disease.
authors.affiliation: Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University, Łódź, Poland. agnieszka.zmysłowska@umed.lodz.pl
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Zmysłowska
authors.forename: Wojciech
authors.initials: W
authors.lastname: Młynarski
mesh_terms: D000293:Adolescent; D000749:Anemia, Megaloblastic / Q000175:diagnosis* / Q000628:therapy; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis* / Q000628:therapy; D042241:Early Diagnosis; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013577:Syndrome