However, our patient presented diabetic ketoacidosis. [latunisiemedicale.com]

• Anemia

  ANEMIA DI BLACKFAN DIAMOND RDG010 ANEMIE EREDITARIE ANEMIA DI COOLEY RDG010 ANEMIE EREDITARIE ANEMIA DI FANCONI RDG010 ANEMIE EREDITARIE ANEMIA DISERITROPOIEITICA CONGENITA CON TROMBOCITOPENIA RDG010 ANEMIE EREDITARIE ANEMIA DISERITROPOIEITICA CONGENITA [malattierare.regione.veneto.it]

  Megaloblastic anemia is the main haematological manifestations. [latunisiemedicale.com]

  Síndrome de anemia megaloblástica sensible a la tiamina de aparición en la niñez, con mutación en el genSLC19A2: caso clínico Facebook Twitter Outras redes sociais Google+ LinkedIn Reddit StambleUpon CiteULike Mendeley Outras redes Métricas SciELO Analytics [search.scielo.org]

  Pediatr Neurol 33: 98–104 CrossRef PubMed Google Scholar Neufeld EJ, Fleming JC, Tartaglini E, Steinkamp MP (2001) Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport. [link.springer.com]

• Turkish

  Validity and reliability of the Clinical Learning Environment, Supervision and Nurse Teacher (CLES+T), Turkish version Facebook Twitter Outras redes sociais Google+ LinkedIn Reddit StambleUpon CiteULike Mendeley Outras redes Métricas SciELO Analytics [search.scielo.org]

• Developmental Delay

  He had a developmental delay. He could not speak; he had hearing loss and was an agitated and disturbed boy. He was the third child of the family. His two sisters died at the age of two and three years. [latunisiemedicale.com]

• Aspiration

  The bone marrow aspirate showed normal cellularity but abnormal erythropoiesis with megaloblastic and dyserythropoietic changes, ringed sideroblasts up to 50%. He had low iron level of 7 μg/l (reference range: 9-30μg/l). [latunisiemedicale.com]

• Polydipsia

  This patient had polyuria and polydipsia for the last one week before admission. On physical examination, the child could not hear or speak and was agitated. [latunisiemedicale.com]

• Heart Disease

  In addition to the cardinal triad features of thiamine responsive megaloblastic anemia, abnormalities of the retina and optic nerve, congenital heart disease, arythmya, have been reported in some patients [2,3,4,5]. [latunisiemedicale.com]

• Retinal Pigmentation

  Human retinal pigment epithelial cells play a pivotal role in supplying thiamine to the highly metabolically active retina. [latunisiemedicale.com]

• Suggestibility

  It is suggestive of a myelodysplasic state and has lead authors to term this condition “thiamine responsive myelodysplasia” [4]. [latunisiemedicale.com]

• Seizure

  Br J Haematol 134: 125–36 CrossRef PubMed CAS Google Scholar Plecko B, Stockler S (2009) Vitamin B6 dependent seizures. [link.springer.com]

  Our patient presented retinitis pigmentosa, nystagmus, seizure and development delay; these features are more common in respiratory chain deficiency. [latunisiemedicale.com]

• Agitation

  He could not speak; he had hearing loss and was an agitated and disturbed boy. He was the third child of the family. His two sisters died at the age of two and three years. [latunisiemedicale.com]

• Anisopoikilocytosis

  The peripheral smear showed anisopoikilocytosis with macrocytosis and microcytosis. The bone marrow aspirate showed normal cellularity but abnormal erythropoiesis with megaloblastic and dyserythropoietic changes, ringed sideroblasts up to 50%. [latunisiemedicale.com]

• Microcytic Anemia

  The association of anemia even microcytic, diabetes mellitus and deafness should suggest thiamine responsive megaloblastic anemia and make manuel differential blood cells to search macrocytes. [latunisiemedicale.com]

• Absent A-Waves

  Audiometry failed to demonstrate any amelioration and on the electrocardiogram, P waves were absent. [latunisiemedicale.com]

After two months of the combined treatment a complete resolution of anemia was observed. Insulinotherapy was successfully stopped at one month after beginning treatment with thiamine. [latunisiemedicale.com]