1/43. Myeloneuropathy following nitrous oxide anesthaesia in a patient with macrocytic anaemia.The neurological condition triggered by anaesthesia with nitrous oxide involves the cyanocobalamine pathway and is characterised by progressive demyelination and axonal lesions of the peripheral nerves and cervicothoracic spinal cord (posterior and anterolateral columns) giving a peripheral neuropathy and very frequently subacute combined degeneration of the spinal cord. It is possible to show these demyelinating lesions by MRI of the spine, allowing early diagnosis and follow-up. We describe a case of myeloneuropathy with onset a few hours after nitrous oxide anaesthesia in a patient with macrocytic anaemia and possible subclinical vitamin B(12) deficiency and MRI evidence of a lesion of the cervical spinal cord. Neurological and haematological improvement followed cyanocobalamine replacement.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/43. Acute axonal polyneuropathy in chronic alcoholism and malnutrition.In contrast to the classic, slowly progressive polyneuropathy in alcoholic patients, acute forms, clinically mimicking guillain-barre syndrome, are rare. We present a patient who developed motor weakness and sensory loss in all four limbs within four days. Laboratory data were consistent with long-term alcohol abuse and documented thiamine deficiency. Repeated cerebrospinal fluid examinations were normal. Electrophysiological studies showed an acute sensorimotor polyneuropathy with predominantly axonal involvement. We conclude that acute alcoholic neuropathy has to be distinguished from guillain-barre syndrome and other forms of acute polyneuropathy by using clinical, laboratory, and electrophysiological data. Both ethanol toxicity and vitamin deficiency could play a role in the pathogenesis.- - - - - - - - - - ranking = 2keywords = deficiency (Clic here for more details about this article) |
3/43. Dihydrofolate reductase deficiency causing megaloblastic anemia in two families.To determine the cause of severe megaloblastosis detected at birth and at four weeks in two unrelated infants their bone marrow and liver cells were studied. Both patients had abnormal deoxyuridine suppression tests, corrected to normal by 5-formyl tetrahydrofolic acid. Liver-cell homogenate from one patient had a previously undetectable level of dihydrofolate reductase restored to normal by high cation concentration in the assay. Activity of the liver-cell homogenate from the other patient, which was one quarter of the normal level, was restored to only half normal activity by high cation concentration. Dihydrofolic acid reductase deficiency prevents this conversion of folic acid to tetrahydrofolic acid; the enzyme activity appears to differ in each patient. A satisfactory clinical response in both patients followed parenteral therapy with 5-formyl tetrahydrofolic acid. One sibling in each family died of a similar illness. Autosomal recessive inheritance is probable.- - - - - - - - - - ranking = 1465.1188503273keywords = folic acid, folic, deficiency, acid (Clic here for more details about this article) |
4/43. Molecular characterization and diagnosis of Hb Crete [beta129(H7)Ala-->Pro].We report the molecular characterization of Hb Crete [beta129(H7)Ala-->Pro] in a female subject from the Greek island of Crete. dna sequence analysis revealed a 1368 GCC-->CCC base substitution in exon 3 of the beta-globin gene, leading to the Ala-->Pro amino acid change at codon 129. Both the proband and her mother, who were found to be heterozygotes for Hb Crete, presented with mild microcytic anemia and normal Hb A2 levels and iron metabolism indices. This is the first description of an heterozygous Hb Crete case, and also the first report on the molecular basis of Hb Crete. Moreover, the proposed NlaVI restriction enzyme-based detection of Hb Crete at the dna level is a fast and accurate approach, useful for molecular diagnostics.- - - - - - - - - - ranking = 0.025799350318129keywords = acid (Clic here for more details about this article) |
5/43. Acquired copper deficiency following prolonged jejunostomy feeds.A 19-year-old man who developed extensive oesophageal lye (Alkali) stricture and received long-term enteral nutrition (eight months) with a jejunostomy tube developed macrocytic anaemia (Hb: 41 g/L) with leucopenia (white blood cell [WBC]: 3.0 x 10(9)/L). The patient's serum vitamin B12, folate, iron and liver function tests were normal. bone marrow examination revealed gross erythroid hyperplasia and cytoplasmic vacuolization of erythroid and myeloid elements. Further investigations revealed low serum copper (0.3 micromol/L) and ceruloplasmin concentrations (<30 mg/L) with marginally low normal serum concentration of red cell peroxidase (13 U/gHb), establishing the diagnosis of copper deficiency anaemia. The anaemia and leucopenia responded intermittently to intravenous copper therapy, but the serum copper concentration dropped when intravenous copper therapy was withdrawn. Enteral jejunostomy copper supplementation failed to maintain adequate serum copper concentrations. After stabilizing the general condition of the patient, a pharyngo-gastric anastamosis was performed and normal oral diet commenced, which restored normal serum copper concentration. This case report suggests that copper supplements in the form of copper sulphate are not adequately absorbed when administered through a jejunostomy tube.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
6/43. Neuropsychiatric manifestations of vitamin B12 deficiency in the absence of anemia or macrocytosis: a case report.We describe an atypical case of a young adult who had the acute onset of neuropsychiatric symptoms consistent with vitamin B12 deficiency despite a normal hematocrit, a normal MCV, a normal peripheral blood smear, a normal bone marrow biopsy, a normal schilling test but abnormally low serum vitamin B12 levels. The patient responded quickly to parenteral vitamin B12 therapy but had mild residual symptoms at the time of his last clinic visit.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
7/43. life-threatening maternal and fetal macrocytic anemia from antiretroviral therapy.BACKGROUND: Antiretroviral therapy is recommended for human immunodeficiency virus (hiv)-infected patients during pregnancy to reduce the vertical transmission to the newborn. Complications from this therapy are uncommon. CASE: A 38-year-old hiv-positive pregnant woman was treated with lamivudine and zidovudine. At 28 weeks of gestation, her hemoglobin had fallen to 4.6 g/dL with an mean corpuscular volume (MCV) of 126 microm. At 36 weeks the fetal biophysical profile was abnormal. A pale hydropic infant was delivered via emergency cesarean, with a hemoglobin of 2.1 gm and MCV of 131 microm. The newborn hemoglobin normalized after withdrawal of the neonatal retroviral therapy. CONCLUSION: Maternal-fetal macrocytic anemia may complicate antiretroviral therapy.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
8/43. Answer to hypotonia: a simple hemogram.A 1-year-old boy with weight loss, decreased activity, and psychomotor regression is presented. He was subjected to an extremely detailed evaluation, including electroencephalography (EEG) and magnetic resonance imaging (MRI), until a simple hemogram in our center revealed that he had macrocytic anemia with megaloblastic changes in the bone marrow. His history revealed that he had been exclusively breast-fed by his vegetarian mother. Further investigations showed low serum vitamin B12 concentration, methylmalonic aciduria, and homocysteinemia, indicating that the macrocytic anemia was due to vitamin B12 deficiency. This boy represents a case of macrocytic anemia and hypotonia owing to vitamin B12 deficiency that developed because of exclusive breast-feeding by a vegetarian mother.- - - - - - - - - - ranking = 2.0257993503181keywords = deficiency, acid (Clic here for more details about this article) |
9/43. Anterior ischemic optic neuropathy associated with macrocytic anemia.A 37-year-old man experienced the acute onset of blurred vision, particularly in the inferior hemifield of his left eye. Neuro-ophthalmic examination showed a left afferent pupillary defect, a left inferior altitudinal visual field deficit, bilateral nerve fiber layer infarcts and hemorrhages, and left optic disc elevation with edema of the nerve fiber bundle. Complete examination and laboratory studies revealed only a severe folate deficiency anemia. This is the first well-documented report of anterior ischemic optic neuropathy associated with anemia in the absence of other systemic abnormalities.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
10/43. Developmental regression as an early manifestation of vitamin B12 deficiency.Loss of previously attained developmental milestones in an infant is often associated with central nervous system tumor, neuromuscular disease, or an inborn metabolic error. An infant with developmental regression and involuntary movements who was found to be vitamin B12 deficient on the basis of unrecognized maternal vitamin B12 deficiency is described. The infant had a dramatic neurologic recovery after receiving vitamin B12. The case and a review of similar cases is presented.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
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