Trastornos neurológicos graves en lactante con anemia megaloblástica / Severe neurological disorders in an infant with megaloblastic anemia

La anemia megalobástica es un trastorno madurativo de los precursores eritroides y mieloides causado por déficit de vitamina B12, ácido fólico, o ambos. Es poco común en la infancia y su prevalencia se desconoce por ser una enfermedad poco frecuente. Se presenta el caso de una lactante, cuya madre tuvo una alimentación precaria durante el embarazo y la lactancia, que prolongó la lactancia materna exclusiva más de 6 meses. La paciente tuvo un desarrollo psicomotor normal hasta los 7 meses cuando comenzó a perder las habilidades ganadas y llegó a tener trastornos neurológicos graves, por lo que se consideró por neurología como una enfermedad progresiva del SNC. Al examen físico se encontró palidez en piel y mucosas, pérdida de los reflejos cocleopalpebrales bilaterales, ausencia de reflejo visual, hipertonía de los 4 miembros e hiperreflexia. Se realizaron exámenes de laboratorio por genética buscando errores congénitos del metabolismo, enfermedades mitocondriales u otras enfermedades como Tay Sachs, gangliosidosis tipo 1 y leucodistrofia metacromática, todas con resultado negativo. Se encontraron valores bajos de hemoglobina, con macrocitosis, por lo que se realizó dosificación de vitamina B12 que se encontró disminuida. Se concluyó como una anemia megaloblástica por déficit de vitamina B12.Se inició tratamiento sustitutivo con vitamina B12, con lo que se logróuna rápida recuperación clínica desde los primeros días de tratamiento y la remisión total de los trastornos neurológicos. El déficit de vitamina B12 debe ser sospechado en lactantes con anemia y trastornos neurológicos especialmente si la alimentación de la madre antes, durante el embarazo y la lactancia no es adecuada(AU)

Megaloblastic anemia is a madurative disorder of erythroid and myeloid precursors caused by deficiency of vitamin B12 and/or folic acid. It is rare in childhood and its prevalence is unknown because it is a rare disease.We report the case of a 14 month old infant with a normal psychomotor development (DPM) until 7 months after which began to lose the gained skills and had severe neurological disorders to such a degree of being studied by neurology by a progressive central nervous system disease. At physical examination pale skin and mucous membranes, loss of bilateral cocleopalpebral reflexes, no visual reflection of the 4 limbs hypertonia, hyperreflexia were found. Laboratory tests were performed reporting hemoglobin of 76 g/L, genetic tests to search for inborn errors of metabolism,mitochondrial diseases and other diseases as Tay Sachs, Gangliosidosis type 1, metachromatic leukodystrophy, all were negative. The dosage of vitamin B12 was 91 pg/mL, and megaloblastic anemia was diagnosed. At the beginning of the treatment with vitamin B12 there was a rapid clinical recovery, the severe neurological disorders were completely reversing. Vitamin B12 deficiency should be suspected in infants with anemia and neurological disorders especially if the mother´s feeding before and during pregnancy and lactation is not adequate(AU)

Deficiência de vitamina B12 e fenilcetonúria / Vitamin B 12 deficiency and phenylketonuria

A fenilcetonúria, doença metabólica hereditária, autossômica recessiva, é a mais frequente das aminoacidopatias. Quando não diagnosticada e tratada precocemente, causa retardo mental grave. Os programas de triagem neonatal transformaram a histó- ria natural dessa doença, possibilitando o diagnóstico neonatal e a instituição imediata do tratamento dietético. Atualmente, os pacientes com controle adequado têm vida normal. Nas últimas décadas, alterações nutricionais têm sido relacionadas ao tratamento dietético e aos seus desvios, especialmente após a primeira década de vida. Neste artigo apresenta-se o caso de um adolescente que desenvolveu anemia megaloblástica por deficiente ingestão de vitamina B12 e uma revisão da literatura sobre o tema.(AU)

Phenylketonuria, inherited metabolic disease, autosomal recessive, is the most common of aminoacidopathies. If not diagnosed and treated early, causes severe mental retardation. The newborn screening programs have transformed the natural history of this disease, allowing the neonatal diagnosis and the immediate institution of dietary treatment. Currently, patients with adequate control have normal life. In recent decades, nutritional changes have been related to dietary treatment and its deviations, especially after the first decade of life. In this article we present the case of a teenager who developed megaloblastic anemia due to poor intake of vitamin B12 and a literature review on the topic(AU)

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.

Etiological spectrum of pancytopenia based on bone marrow examination in children

To determine the spectrum of pancytopenia with its frequency, common clinical presentation and etiology on the basis of bone marrow examination in children from 2 months to 15 years. Observational study. Department of Paediatrics, Liaquat University of Medical and Health Sciences [LUMHS], Jamshoro, from October 2005 to March 2007. All patients aged 2 months to 15 years having pancytopenia were included. Patients beyond this age limits, already diagnosed cases of aplastic anemia and leukemia, clinical suspicion of genetic or constitutional pancytopenia, history of blood transfusion in recent past, and those not willing for either admission or bone marrow examination were excluded. History, physical and systemic examination and hematological parameters at presentation were recorded. Hematological profile included hemoglobin, total and differential leucocyte count, platelet count, reticulocyte count, peripheral smear and bone marrow aspiration/biopsy. During the study period, out of the 7000 admissions in paediatric ward, 250 patients had pancytopenia on their peripheral blood smear [3.57%]. Out of those, 230 patients were finally studied. Cause of pancytopenia was identified in 220 cases on the basis of bone marrow and other supportive investigations, while 10 cases remained undiagnosed. Most common was aplastic anemia [23.9%], megaloblastic anemia [13.04%], leukemia [13.05%], enteric fever [10.8%], malaria [8.69%] and sepsis [8.69%]. Common clinical presentations were pallor, fever, petechial hemorrhages, visceromegaly and bleeding from nose and gastrointestinal tract. Pancytopenia is a common occurrence in paediatric patients. Though acute leukemia and bone marrow failure were the usual causes of pancytopenia, infections and megaloblastic anemia are easily treatable and reversible

Megaloblastic anaemia, seen in 48 cases of pancytopenia

To assess megaloblastic anaemia in patients presenting with pancytopenia. Descriptive study. Hospitalized patients referred for bone marrow examination for the work up of pancytopenia were selected. Complete blood count was done on haematology auto analyzer. Bone marrow aspiration was done for cytology. Perl's iron staining was done in patients showing low blood indices. Forty eight [48] patients underwent bone marrow aspiration for cytology for the work up of pancytopenia. Nineteen [19] patients [39%] showed megaloblastic anaemia. Macrocytosis and hypersegmented neutrophils were the most common finding on peripheral blood smear. Fregmented red cells were seen in 13 patients showing classical finding of megaloblastic anaemia. Megaloblastic anaemia was found to be the most common cause of pancytopenia. Diagnosis of megaloblastic anaemia requires only complete blood count, peripheral blood smear and bone marrow cytology, which is cost effective. Nutritional factors and recurrent infection seem to be associated strongly with megaloblastic anemia

Thrombocytopenia: analysis of 415 patients

To find out the relative frequency of conditions associated with thrombocytopaenia. Descriptive study Combined Military Hospital Attock in collaboration with Armed Forces Institute of Pathology Rawalpindi, from March 2003 to March 2004. Materials and All patients referred for blood counts. Patients with platelet count below 150x10[9]/L, were registered. Investigations including peripheral blood counts and smear examination, blood/smear for bacterial culture, IgM for Dengue virus, Hepatitis B surface antigen and anti-hepatitis C Antibodies, ultrasound abdomen and bone marrow examination were performed. Out of 18,000 patients, 415[2.3%] revealed thrombocytopaenia [341 adults and 74 children]. In adults, viral anti-body was found in 27.7%, malaria in 17%, bacterial infections in 12.4%, megaloblastic anaemia in 8.2%, bone marrow infiltrates in 7.9%, drug induced thrombocytopaenia in 4.4%, chronic liver disease in 3.5%, hypersplenism in 2.9%, DIC in 2.9%, pregnancy associated thrombocytopenia in 2%, aplastic anaemia in 1.5%, ITP in 1.2% and upper respiratory viral infection in 8%. In paediatric age group malaria was detected in 27%, megaloblastic anaemia in 23%, bacterial infections in 13.5%, leukaemia in 13.5%, neonatal thrombocytopenia in 9.5%, ITP in 2.7%, DIC in 1.4%, aplastic anaemia in 1.4% and upper respiratory viral infections in 8%. Malaria, viral and bacterial infections and megaloblastic anaemia are the most common causes of thrombocytopenia in our setup

Pancytopenia--a clinico-hematologic analysis of 77 cases.

The present study was conducted in the department of Haematology and Transfusion Medicine, Government Medical College & Hospital, Chandigarh over a period of 32 months. During this period pancytopenia was an indication for bone marrow (aspiration and or trephine) in 77 out of a total of 205 cases (37.6%). The most common cause of pancytopenia as revealed by bone marrow was megaloblastic anaemia (68%) followed by aplastic anaemia (7.70%). This study also revealed few uncommon and rare, but interesting causes of pancytopenia like drug induced agranulocytosis, hemophagocytic syndrome and waldenstroms macroglobinemia.

Pancitopenia: expresión de la patología hematológica en un hospital general / Pancitopenia: an expresion of the hematologic pathology

En el estudio se incluyeron 45 pacientes con pancitopenia, internados en el Hospital `Dos de Mayo', entre agosto de 1987 y marzo de 1990. El promedio de hospitalización fue de 5 semanas, siendo mayor que el de los demás pacientes internados en las salas de medicina. Las entidades etiológicas causantes fueron: Anemia Megaloblástica (37 por ciento), Anemia Aplásica (31 por ciento), Leucemias Agudas (26 por ciento), Anemia Refractaria (4 por ciento) y Linfoma (2 por ciento). Las manifestaciones más frecuentes fueron: Anemia (100 por ciento), sangrado (60 por ciento) e infección (45 por ciento). El sangrado, su duración, extensión y fallecimiento se relacionó con el número de plaquetas. Así: si el número fue igual o mayor de 80,000 no hubo sangrado, si el número fue igual o menor de 20,000 se evidenció sangrado, si el número fue igual o menor de 5,000 se presentó sangrado mayor de 24 horas y muerte. La infección como complicación de neutropenia está en relación con la entidad causal y fue más frecuente Anemia Aplásica y Leucemias Agudas. El germen causal se demostró en 7 del total de los pacientes infectados, ocupando el primer lugar los GRAM negativos. El 65 por ciento de las infecciones fueron intrahospitalarias. Fallecieron 11 pacientes (24 por ciento), siendo los grupos más afectados: Leucemias Agudas (45 por ciento) y Anemia Aplásica (36 por ciento). Las causas de muerte fueron : La Anemia Megaloblástica principal causa de pancitopenia en nuestro hospital según este trabajo, es una entidad benigna, por lo que se puede recuperar a los pacientes que la padecen

Anemia megaloblástica y manifestaciones gastrointestinales en Lima: ¿La punta del iceberg? / Megaloblastic anemia and gastrointestinal aspects in Lima: The tip of the iceberg?

Se revisa la casuística, de los tres últimos años, del servicio de Hematología y de un total de 316 casos se escogieron veinte que reúnen los criterios de inclusión (6.23%). Resultados: palidez y malestar en el 100%, alteraciones en el ritmo defecatorio 75%, náusea, vómito y sangrado en 40%, ictericia 25%, asco por los alimentos 20%, infección 10%. Anemia severa hiporregenerativa en el 100%, trombocitopenia 75% pancitopenia 60% como procesos asociados encontramos: antecedentes gineco-obstétricos en el 25%, tuberculosis entero-peritoneal 15%, y sin causa aparante el 40% primaria. En once pacientes se hicieron dosaje de Vitamina B12 y ácido fólico, encontrándose: déficit de B12 en 6 (54.5%), de ácido fólico en 3 (27.2%) y de ambos en dos (118.1%). Salvo un paciente que falleció en sepsis, los restantes respondieron adecuadamente al tratamiento vitamínico. Encontramos que la deficiencia de ácido fólico asociada a ferropenia, predominó en pacientes con antecedentes obstétricos; el déficit combinado, en aquellos con patología asociada y la falta de B12 en el grupo sin causa aparente. De la información nacional disponible y nuestra observaciones, podemos concluir que estamos frente a un brote de anemia megaloblástica que cursa frecuentemente con manifestaciones gastrointestinales y cuya causa aún no ha sido esclarecida

Bleeding manifestations in megaloblastic anemia.

Ten children with megaloblastic anemia and a hemorrhagic diathesis are reported. Four of them had life-threatening bleeds necessitating an emergency blood transfusion. Seven had platelet counts of less than 30,000/cu mm, and nine had hemoglobin values of less than or equal to 5.2 g/dl at initial presentation. Deficiency of vitamin B12 was more frequently encountered. Response to therapy was excellent and hemostasis was possible within 12 to 24 hours of initiating treatment.

Enfermedad de Addison, anemia megaloblástica y artritis reumatoidea: presentación de un caso / Addison's disease, megaloblastic anemia and rheumatoid arthritis: report of a case

Se presenta un paciente de 41 años que padece de artritis reumatoidea e ingresa en el Hospital Provincial Clinicoquirúrgico de Sancti Spíritus por presentar astenia marcada, pérdida de peso de 41,2 kg e hipotensión postural. Durante su estancia en la sala se le diagnostica insuficiencia suprarrenal crónica primaria y anemia megaloblástica por déficit de vitamina B12. Se hacen consideraciones etiológicas con respecto a estas entidades