Pseudomicroangiopatía trombótica por deficiencia de vitamina B12 en un lactante / Pseudo-thrombotic microangiopathy due to vitamin B12 deficiency in an infant

La seudomicroangiopatía trombótica o síndrome de Moschcowitz es una manifestación infrecuente del déficit de vitamina B12. Se caracteriza por anemia hemolítica con características microangiopáticas, reticulocitos e índices hematimétricos normales o con ligera megaloblastosis, asociados a manifestaciones neurológicas. La vitamina B12 está presente en alimentos proteicos de origen animal. La lactancia materna es una fuente adecuada para los niños cuando los niveles maternos son normales. Se presenta a una paciente de 16 meses que se internó por anemia hemolítica con requerimiento transfusional, plaquetopenia, mal progreso pondoestatural y retraso neuromadurativo. Durante su internación se arribó al diagnóstico de seudomicroangiopatía trombótica secundaria a déficit de vitamina B12.

Pseudo-thrombotic microangiopathy, or Moschcowitz syndrome, is a rare manifestation of vitamin B12 deficiency. It is characterized by microangiopathic hemolytic anemia, reticulocytes, and hematimetric indices that can be normal or that might present a mild megaloblastosis, and which are associated with neurological manifestations. Vitamin B12 can be found in animal-based protein foods. Breastfeeding is an adequate source of this vitamin for children, when maternal serum levels are normal. The case of a 16-month-old infant is presented. She was admitted for hemolytic anemia with transfusion requirement, thrombocytopenia, failure to thrive and developmental delay. During her hospitalization, she was diagnosed with pseudothrombotic microangiopathy caused by vitamin B12 deficiency.

Gluten and Neuroimmunology. Rare association with Myasthenia Gravis and Literature Review

SUMMARY As the celiac disease (CD), the non-celiac gluten sensitivity (NCGS) has also been associated with several autoimmune manifestations. It is rarely associated with myasthenia gravis (MG). This paper shall introduce the case of a young female patient, initially presenting a peripheral neuropathy framework. During clinical and neurological follow-up, she began to present symptoms of various immune-mediated morbidities. Diseases related to gluten represent a clinical spectrum of manifestations with a trigger in common, the ingestion of gluten. CD is the most well-known and serious disease of the spectrum, also called gluten-sensitive enteropathy. The NCGS is diagnosed from clinical evidence of improvement in symptoms followed by a Gluten Free Diet (GFD) in patients without signs of enteropathy in duodenal biopsy. There are indications that, although rare, with a prevalence of 1 in 5000, myasthenia gravis (MG) may occur more often when CD is also present. Between 13 to 22% of the patients with MG have a second autoimmune disorder. However, it is often associated with dermatomyositis or polymyositis, lupus erythematosussystemic lupus erythematosus, Addison's disease, Guillain-Barré syndrome and juvenile rheumatoid arthritis. Thus, the symptoms of neuromuscular junction involvement may give a diagnostic evidence of this rare association.

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)

Secuelas neurofuncionales por déficit de cobalamina (vitamina B12) en un adulto joven: estudio de caso / Neurofunctional sequelae by cobalamin deficiency (vitamin B12) in a young adult: case study / Sequelas neurofuncionales por défice de cobalamina (vitamina B12) em um adulto jovem: estudo de caso

El objetivo del presente artículo fue caracterizar las principales alteraciones neurofuncionales en un adulto joven en condición de déficit de vitamina B12. Para esto, se utilizó un estudio de caso único con enfoque cuantitativo, de corte descriptivo. Los resultados arrojados por las pruebas, dieron cuenta de alteraciones en la memoria de trabajo, para la memoria verbal y visual, con una mayor afectación en la memoria de contenido verbal, además de dificultades en comprensión y en la fluidez verbal y fonológica. De igual manera, el sujeto presentó deterioro en la atención sostenida, selectiva y alternante, y se dieron fenómenos como las perseveraciones, intrusiones, errores de denominación y alteraciones en la planeación y organización, esto referente a las funciones ejecutivas. Por otra parte, no se halló compromiso en la capacidad de repetición, ni dificultades en las praxias, grafestesias y esterognosias, sumado a la ausencia de signos negativos para los componentes generales de la Teoría de la Mente.

The aim of the present article was to characterize the main neurofunctional alterations of vitamin B12 deficits in young adults. To do this, we used a single case study with a quantitative approach, of descriptive criteria. The results of the tests showed alterations in working memory, for verbal and visual memory, with a greater involvement in the memory of verbal content, as well as difficulties in comprehension of verbal and phonological fluency. Likewise, the subject presented deterioration in sustained, selective and alternating attention, and phenomenas such as: perseverations, intrusions, naming errors and alterations in planning and organization, this refers to executive functions. On the other hand, there was no compromise in the ability to repeat, nor difficulties in praxis, graphesthesia and steerognosies, and this is added to the absence of negative signs for the general components of Theory of Mind.

O objetivo do presente artigo foi caracterizar as principais alterações neurofuncionales num jovem adulto em condição de deficiência de vitamina B12. Para isto, utilizouse um estudo de caso único com abordagem quantitativa, de corte descritivo. Os resultados para as provas, deram conta de distúrbios na memória de trabalho, para a memória verbal e visual, com uma maior envolvimento na memória de conteúdo verbal, além de dificuldades na compreensão ena fluidez verbal e fonológica. Da mesma forma, o sujeito apresentou deterioração na atenção sustentada, seletiva e alternada, e deu-se fenômenos como as perseverações, intrusões, erros de denominação e alterações no planejamento e organização, isto se refere às funções executivas. Por outro lado, não foi encontrado nenhum compromisso na capacidade de repetição, nem dificuldades nas praxias, grafestesias e esterognosias, somado à ausência de sinais negativos para os componentes gerais da teoria da mente.

Manifestaciones neurológicas del déficit de vitamina B12 en pediatría / Neurological manifestations of vitamin B12 deficiency in pediatrics

Introducción: El déficit de vitamina B12 genera un proceso de desmielinización neuronal, manifestándose con anormalidades cerebrales y degeneración del cordón espinal. En pediatría, las manifestaciones neurológicas son una de las formas de presentación. Usualmente, se observa en niños alimentados con lactancia materna exclusiva cuyas madres tienen escaso consumo de alimentos de origen animal. Objetivo: Describir las manifestaciones neurológicas del déficit vitamínico e identificar factores de riesgo alimentario. Pacientes y método: Se realizó un estudio de serie de casos de 6 pacientes internados en el Hospital Garrahan con deficiencia de vitamina B12 en el periodo comprendido entre julio 1996 y diciembre 2013 cuyo diagnóstico se realizó mediante determinación sérica de vitamina B12. Resultados: La edad media de presentación de los síntomas fue de 3,6 meses. El 83.3% de los pacientes presentaron convulsiones, 60% las manifestaron de forma exclusiva y en el 40% se asociaron a hipotonía y pérdida de pautas madurativas. Un 16.7% presentó hipotonía más pérdida de pautas sin presentar convulsiones. Respecto de la alimentación, la totalidad recibía lactancia materna, el 83.3% de forma exclusiva, el 16.7% asociada a leche maternizada. En cuanto a la dieta de las madres de pacientes alimentados con pecho materno exclusivo, el 40% realizaba dieta vegetariana estricta, en otro 40% no se hallaron datos relacionados con su alimentación, pero se diagnosticó déficit de vitamina B12 por dosaje sérico, y el 20% restante refería recibir dieta general. Conclusión: Ante el aumento de la incidencia de la población vegetariana/vegana, se debería considerar la deficiencia de vitamina B12 ante pacientes con manifestaciones neurológicas de etiología desconocida, dado que es una enfermedad con un tratamiento inocuo y efectivo, y se evidencia mejoría clínica, y de los parámetros de laboratorio en todos los casos (AU)

Introduction: Vitamin B12 deficiency may cause a process of neuronal demyelination associated with brain abnormalities and degeneration of the spinal cord. In pediatrics, neurological manifestations are one of the forms of presentation. It is usually observed in exclusively breast fed children whose mothers do not consume food of animal origin. Aim: To describe neurological manifestations of vitamin B12 deficiency and identify nutritional risk factors. Patients and method: A series of 7 patients admitted to Hospital Garrahan with vitamin B12 deficiency diagnosed by vitamin B12 serum level testing were evaluated between July and December of 1996-2013. Results: Mean age at symptom presentation was 3,6 months. Overall, 83.3% of the patients presented with seizures, in 60% as the only symptom and in 40% associated with hypotonia and developmental delay. Hypotonia and developmental delay without seizures were observed in 16.7%. A single patient presented with pancytopenia only. All infants were breastfed, 83.3% exclusively, 16.7% in combination with formula, and the remaining 14.3% in combination with food. Regarding the diet of the mothers of the exclusively breastfed children, 40% followed a strict vegetarian diet, for another 40% no data on their diet were available but they were diagnosed with vitamin B12 based on serum values, and the remaining 20% followed a general diet. Conclusion: As the incidence of vegetarianism/veganism is increasing in the population, vitamin B12 deficiency should be considered in patients with neurological symptoms of unclear etiology, as treatment of the condition is innocuous and effective and leads to clinical and laboratory parameter improvement in all cases (AU)

Acute myocardial infarction in a young lady due to vitamin B12 deficiency induced hyperhomocysteinemia

Hyper-homocysteinemia is a risk factor for coronary artery disease in young patients. A 32 years old female without any conventional risk factors except obesity presented with acute anterior wall myocardial infarction [MI]. Her echocardiography showed anterior wall hypokinesia with moderate left ventricular dysfunction. Angiography showed tight stenosis of the proximal left anterior descending [LAD] and borderline lesion in left circumflex coronary artery [LCX]. She underwent percutaneous coronary intervention [PCI] to LAD with good result. Her blood tests showed low vitamin B12, folate and serum iron levels and elevated serum homocysteine level. She was given folic acid and vitamin B12 and her homocysteine levels normalized. This case demonstrates that hyperhomocysteinemia caused by nutritional deficiency of vitamin co factors may lead to MI. Hyperhomocysteinemia should be considered in the evalauation of young people with MI, especially those without conventional risk factors

Mielopatia por deficiência de cobalamina: resolução clínica e de imagem / Cobalamin deficiency myelopathy: clinical and imaging resolution

Embora o quadro clássico de mielopatia por deficiência de vitaminaB12 seja a degeneração subaguda combinada da medula, a manifestaçãoclínica pode ser variável. Homem branco de 36 anos de idade com hipotireoidismo e vitiligo apresentou dormência nas mãos de início súbito. Exame físico: sinal de Lhermitte e hipoestesia nas palmas. Evidenciada alteração de sinal na ressonância magnética (RM) da medula cervical. Foram evidenciados nível sérico de vitamina B12 de 150 pg/mL, gastrite atrófica e hemograma normal. Paciente foi tratado com reposição intramuscular de vitamina B12. Após seis meses, houve remissão completa dos sintomas com normalização do exame de imagem em um ano. O presente caso ilustra discreta alteração clínica e lesão extensa na RM (dissociação entre a clínica e o exame de imagem) na deficiência de B12. A melhora dos sintomas precedeu a resolução da alteração no exame de imagem, no presente caso.

Although the classic manifestation of myelopathy due to vitamin B12deficiency is a subacute combined degeneration of the spinal cord, the clinical manifestation may be varied. A 36-year-old white man with hypothyroidism and vitiligo presented sudden onset of numbness in hands. Physical examination: Lhermitte's sign and hypoesthesia in palms. Signal change on magnetic resonance image (MRI) of the cervical spinal cord was evidenced. Serum vitamin B12 of 150 pg/mL, gastric atrophy and normal hemogram were shown. The patient was treated with intramuscular vitamin B12 replacement. After six months there was complete remission of the symptoms, and within one year the MRI was normal. This case illustrates mild clinical signs and extensive changes on MRI (dissociation between clinic and image) in B12 deficiency. Resolution of MRI was observed after the clinical signs, in the present case.

Frequency of intrinsic factor antibody in megaloblastic anaemia

To evaluate the presence of intrinsic factor antibody in vitamin B12 deficient patients. Cross-sectional, observational study. Fauji Foundation Hospital, Foundation University Medical College and Armed Forces Institute of Pathology, Rawalpindi, from January 2011 to June 2012. A total of 120 patients of megaloblastic anaemia were selected on the basis of low serum vitamin B12 level. The intrinsic factor antibody tests were performed by ELISA method. The patients were considered positive or negative on the basis of presence or absence of intrinsic factor antibody respectively. The data was analyzed by using SPSS version 14. Pernicious anaemia with intrinsic factor deficiency was found in 13.3% in 120 vitamin B12 deficient patients. The mean age of patients of pernicious anaemia was 41.5 years, with a male to female ratio of 1:2.5. It was relatively more common in older age [17% in age more than 60 years] as compared to other age groups. Frequency of pernicious anaemia in megaloblastic anaemia was 13.3%. The male to female ratio was 1:2.5 and it was relatively more common in age group of more than 60 years

Prevalence and aetiology of anaemia in lymphoid malignancies.

Background. We prospectively studied the prevalence, type and causes of anaemia in newly diagnosed patients with lymphoid malignancies. Methods. Between January 2007 and June 2008, a total of 316 newly diagnosed, consecutive patients (aged 15 years or above) of Hodgkin lymphoma, non-Hodgkin lymphoma and chronic lymphocytic leukaemia with anaemia (haemoglobin <11 g/dl), were analysed to determine the prevalence and a subgroup of 46 patients was analysed for the cause of anaemia. Results. Hodgkin lymphoma, non-Hodgkin lymphoma and chronic lymphocytic leukaemia were the diagnoses in 81 (25.8%), 203 (64.7%) and 30 (9.6%) patients, respectively. Anaemia was present in 134 patients (42.4%). Anaemia of chronic disease was present in 33/46 (71.7%) and iron deficiency in 18/46 (39.1%) patients. Vitamin B12 and/or folate deficiency was detected in 10/46 (21.7%) patients (B12 deficiency alone in 7, folate deficiency alone in 1 and combined B12 and folate deficiency in 2). Autoimmune haemolytic anaemia was detected in 5/46 (10.9%) although direct Coombs test was positive in 17/46 (37%) patients. Among patients with Hodgkin lymphoma and non-Hodgkin lymphoma, anaemia due to bone marrow involvement was present in 16/40 (40%). In most patients with bone marrow involvement, anaemia was due to other causes. In only 3 patients, anaemia was attributable to bone marrow involvement alone. Anaemia was multifactorial in 18/46 (39.1%) patients. Nutritional deficiency alone or in combination was present in 22/46 (47.8%) patients. Conclusion. Anaemia is common in lymphoid malignancies at initial presentation. Besides managing anaemia of chronic disease and bone marrow involvement, nutritional and autoimmune causes should be ruled out.

Correlation between hematological parameters and recurrent aphthous stomatitis

Recurrent Aphthous Stomatiitis is a painful oral mucosal lesion affecting about 20% of the world's population. On morphological basis RAS lesions can be divided into three main types including minor RAS [MiRAS], major RAS [MjRAS] and herpetiform RAS [HuRAS]. Eighty five percent of all RAS lesions are Minor in nature. Classification based on severity of the lesion includes simple aphthosis and complex aphthosis. The etiology of the lesion is unknown. Many factors contribute in the Pathogenesis of RAS like inflammatory bowel disease, food allergy, stress, hormonal and immunological disturbances. Vitamin B12, Iron and Ferritin deficiencies. Deficiency of Hematological parameters especially Folate and Vit b 12 causes Megaloblastic anemia which is more common in developing countries. Pakistan is a developing country and nutritional anemia is very common in the country. These nutritional deficiencies cause RAS. The aim of this review is therefore to determine the hematological parameters correlated with recurrent aphthous stomatitis

High frequency of low serum levels of vitamin B [12] among patients attending Jordan University Hospital

This study aimed to estimate the status of serum vitamin B[12] level in patients attending Jordan University Hospital in Amman, and to examine the relationship with demographic data, chronic illness, dietary habits, haematological parameters and symptoms related to vitamin B[12] levels. A total of 838 patients completed a questionnaire and gave blood samples; 44.6% were vitamin B[12] deficient [< 180 pg/mL] and 34.2% had hypovitaminosis [180-300 pg/mL]. Vitamin B[12] deficiency was associated with memory impairment, low meat intake and strict vegetarian [vegan] diets. The high frequency of low vitamin B[12] warrants the development of a strategy to correct this problem in Jordan

Psychiatric presentations of vitamin B 12 deficiency.

Vitamin B12 deficiency has been implicated in various psychiatric conditions for a long time. The association could be primary, secondary to the psychiatric disorder, or even just coincidental. However, left untreated, the deficiency can delay or preclude recovery. Hence early recognition is important, especially when the traditional manifestations of B12 deficiency like anaemia, macrocytosis or spinal cord symptoms are not prominent. Three cases are presented here where vitamin B12 deficiency and psychiatric symptomatology were coexistent, and the patients recovered only on a combination of B12 supplementation and psychiatric medication.

Elevated red cell volume in North Indian students.

In a survey for beta-thalassemia carrier status among students in the State of Punjab in India, a surprisingly large number were found to have an elevated red cell volume over 99 fl. The finding was predominantly but not exclusively in females. Similar student surveys from other states showed less macrocytosis. Follow-up tests in a group of affected students were carried out. Volunteers were asked to modify their diet then after six months they were provided with oral vitamin B12. The resulting changes are reported and the implications of the probable vitamin B12 and or folic acid deficiency are considered.