Thiamine responsive megaloblastic anemia syndrome.

Thiamine responsive megaloblastic anemia syndrome (TRMA) is a clinical triad characterized by thiamine-responsive anemia, diabetes mellitus and sensorineural deafness. We report a 4-year-old girl with TRMA whose anemia improved following administration of thiamine and this case report sensitizes the early diagnosis and treatment with thiamine in children presenting with anemia, diabetes and deafness.

Incidence of megaloblastic anaemia and its correction in leishmaniasis--a prospective study at BPKIHS hospital, Nepal.

Fifty (50) cases of Leishmaniasis were included in a prospective study after making the diagnosis based on the demonstration of L D Bodies on bone marrow aspirate. Hemoglobin (Hb) and total leucocyte count (TLC) were less than 10 gm/dl and 4000 per/ml respectively in 22 out of 50 cases. Among 50 cases, 30 showed macrocytic red cell and hypersegmented neutrophils on peripheral blood smear as features of megaloblastic anemia. Out of 30 cases of leishmaniasis with megaloblastic anemia, 10 cases showed decreased reticulocyte count. Bone marrow aspiration cytology showed megaloblastic maturation in erythroid series and giant metamyelocytes in myeloid series in all 30 cases of leishmaniasis with megaloblastic changes. Bone marrow iron was also increased in these cases. However megakaryocyte was normal in all. Among 30 cases of leishmaniasis with megaloblastic changes, 15 cases were treated with sodium antimony gluconate (SAG) only and other 15 with SAG, folic acid and Vit. B12. Rest 20 cases of leishmaniasis without megaloblastic changes were also treated with SAG only. After treatment with SAG alone as well as with SAG, folic acid and vit. B12, hemoglobin and TLC improved in all 50 cases. Of 15 cases of leishmaniasis with megaloblastic changes, who were treated with SAG, folic acid and vit. B12, the reticulocyte count reached at peak on the 7th day and normalized at the end of 4th week. Red blood cells (RBC) also became normocytic normochromic and neutrophils became normal on peripheral blood smear. But no change was observed in reticulocyte count, RBC and white blood cell (WBC) morphology on peripheral blood smear in cases of leishmaniasis without megaloblastic changes and other 15 cases of leishmaniasis with megaloblastic changes, who received SAG only.

Homocystinuria: a rare cause of megaloblastic anemia.

We present an eight-year-old boy who initially presented to us with megaloblastic anemia and subsequently developed dislocation of lens. The child had a positive sodium nitroprusside test and homocystinuria. He was diagnosed to have homocystinuria type 1. His anemia improved on oral pyridoxine and folic acid therapy. Homocystinuria should be remembered as a cause of megaloblastic anemia.

Visual evoked responses in megaloblastic anemia.

Pattern shift visual evoked responses (PSVER) were studied in thirty patients suffering from severe megaloblastic anemia (mean Hb level was 4.25 +/- 1.22 g/dL) of nutritional origin. All patients lacked clinical stigmata of visual and neurologic impairment. Mean P100 latency in thirty age and sex matched controls was 96.35 +/- 6.75 ms (range 86-108 ms) and mean amplitude was 10.37 +/- 3.88 microV (range 4.8-20.8 microV). Mean P100 latency in megaloblastic anemia was 114.77 +/- 11.68 (range 91-142) ms, P < 001 vs. control) and mean amplitude was 8.85 +/- 2.8 microV (range 5.1-16.2 microV). Seventy percent cases had prolonged latency of P 100. After correction of anemia with therapeutic doses of vitamin B12 and folic acid in three months (mean Hb level was 12.08 +/- 1.86 g/dL), the mean P100 latency was 105.13 +/- 9.30 ms (range 92-121 ms P < 0.001 vs. controls) and mean amplitude was 10.72 +/- 4.13 microV (range 5.1-21.4 microV). There was significant improvement in P100 latency after correction of anemia (P < 0.01). There was a negative correlation between P100 latency and hemoglobin levels, though it was statistically not significant.

Anemia megaloblastica en el Hospital 2 de Mayo: agosto 1984 - abril 1987 / Megaloblastic anemia in the Hospital 2 de Mayo: August 1984 - april 1987

Se estudian 34 casos de Anemia Megaloblástica por deficiencia de vitamina B12 y/o ácida fólico, atendido a diferentes parámetros hematológicos, bioquímicos, clínicos y otros datos complementarios comparando los resultados obtenidos con lo publicado en la literatura médica. Los datos más relevantes que se ha obtenido se pueden concretar diciendo que la Anemia Megaloblástica es una enfermedad de ligero predominio femenino y con preferencias por las edades avanzadas. Las manifestaciones de anemia son las alteraciones clínicas más frecuentemente encontradas. Se trata generalmente de anemias marcadas acompañadas de discretas leucopenia y trombocitopenia. En nuestro medio se tipifica la etiología y a todos los pacientes se les trata con la administración simultánea de vitamina B12 y ácido fólico. La incidencia real de esta anemia es difícil de establecer, puesto que los tratamientos polivitamínicos administrados muchas veces de forma indiscriminada pueden enmascarar un número elevado de casos, sobre todo en el ámbito extrahospitalario