1/258. Neuropathy in two cobalamin-deficient breast-fed infants of vegetarian mothers. We describe the electrophysiological findings in 2 infants with deficient cobalamin intake. After normal development, psychomotor regression appeared after the 6th month, leading to severe hypotonia and apathy before the 12th month. Electrodiagnostic evaluation showed sensory neuropathy in both cases, associated with motor neuropathy in 1 case. Thus, in an acquired floppy infant syndrome, electrophysiological signs of peripheral neuropathy contributed to the diagnosis of a curable metabolic disorder. ( info) |
2/258. A focused approach to anemia. If all the elements of the complete blood cell count are considered in clinical context, they can provide an invaluable guide to the possible causes of a patient's anemia and the tests needed for definitive diagnosis. Unnecessary tests not only add to the expense of treatment but may result in delayed diagnosis and inappropriate treatment in some cases. ( info) |
3/258. MRI in vitamin B12 deficiency myelopathy. BACKGROUND: Little is known about vitamin B12 deficiency myelopathy's magnetic resonance imaging (MRI) manifestations and their relationship to the onset, evolution, and resolution of neurologic signs and symptoms. methods: We present a case and review eleven additional reported cases of subacute combined degeneration of the spinal cord detected by MRI. RESULTS: Our patient had increased T2-weighted signal and gadolinium contrast enhancement of the posterior columns in the cervical and thoracic regions and enhancement of the lateral columns in the high cervical region. This is a case with imaging evidence for lateral column lesions. Two prior reports have shown posterior column enhancement. T1-weighted images may show decreased signal in the posterior columns and sometimes demonstrate reversible spinal cord swelling. MRI abnormalities typically improve after vitamin replacement therapy. However, clinical signs may persist despite resolution of imaging abnormalities, and these abnormalities do not always resolve completely. In addition, symptoms may precede the imaging abnormality. CONCLUSIONS: Vitamin B12 deficiency may produce an increased T2-weighted signal, decreased T1-weighted signal, and contrast enhancement of the posterior and lateral columns of the spinal cord, mainly of the cervical and upper thoracic segments. Because the symptoms may precede any imaging abnormality, it is clear that spinal cord MRI may not be a highly sensitive, early test for subacute combined degeneration. ( info) |
4/258. multiple myeloma involving the stomach with vitamin B12 deficiency. Involvement of the gastrointestinal tract by plasmocytoma is rare. In a 78-year-old man with IgA lambda multiple myeloma stage IIIB, the evaluation of a megaloblastic anaemia revealed a subnormal vitamin B12 level. Urinary excretion of isotope-labelled vitamin B12 was reduced. Tests for gastric parietal cell and intrinsic factor antibodies were negative. There were no clinical signs of an insufficient absorption in the ileum. biopsy specimens of the stomach showed a dense, diffuse infiltrate of malignant plasma cells in the lamina propria of fundus and corpus. A urease test for helicobacter pylori was positive. There was a minor haematological improvement when vitamin B12 was given parenterally. Several combinations of cytostatic drugs had no effect on the manifestations of the multiple myeloma. In our patient the vitamin B12 deficiency may be related to a displacement or destruction of parietal cells by malignant plasma cells. ( info) |
5/258. Imerslund-Grasbeck syndrome in an African patient. Imerslund-Grasbeck syndrome (IGS) is a rare cause of megaloblastic anaemia in young children. We wish to report the first case described from africa. The diagnosis of IGS was made on the findings of a low vitamin B12 level, mild proteinuria, and a vitamin B12 absorption test unaffected by the intrinsic factor. The patient responded well to treatment with intramuscular vitamin B12. ( info) |
6/258. MRI of the spinal cord in myelopathy complicating vitamin B12 deficiency: two additional cases and a review of the literature. Focal spinal cord lesions have been present in all previously reported cases of MRI appearances in myelopathy complicating vitamin B12 deficiency. We describe two further cases showing mild atrophy only and review the salient features of the previous 11 publications. MRI findings reflect quite closely the known pathological changes in this condition. ( info) |
| We report a patient with dementia due to B-12 deficiency and syphilis who presented to a forensic hospital after killing his ex-wife with a gun. Despite current awareness on the occurrence of aggression and violence in patients with dementia, there has been no report discussing dementia secondary to an infectious or nutritional origin causing homicide or severe violent behavior. We discuss possible mechanisms and several predisposing factors for violent behavior in the elderly. We also discuss use and access of a gun in demented patients and its complications. We recommend availability of neuropsychiatric assessments in the elderly, limitation of gun access to demented patients and inquiry about weapon possession in the elderly. ( info) |
8/258. 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. ( info) |
9/258. Transcobalamin II deficiency with methylmalonic aciduria in three sisters. Transcobalamin II (TC II) is a plasma protein that binds vitamin B12 (cobalamin, Cbl) and facilitates cellular Cbl uptake by receptor-mediated endocytosis. In autosomal recessive TC II deficiency, intracellular Cbl deficiency results in an early onset of megaloblastic anaemia that may be accompanied by neurological abnormalities. Inadequate treatment may lead to neurological abnormalities. We describe three sisters, the daughters of first cousins of Moroccan origin, with TC II deficiency requiring continuous and long-term vitamin B12 treatment. The diagnosis was suspected from the finding of low unsaturated vitamin B12 binding capacity and confirmed by absence of detectable TC II by radioimmunoassay and by inability of cultured fibroblasts to synthesize TC II. ( info) |
10/258. Nutritional deficiencies in a patient with glycogen storage disease type Ib. The current mainstay of treatment in glycogen storage disease type i (GSD I) is dietary management that includes providing a frequent source of glucose to prevent hypoglycaemia. To ensure compliance, routine follow-up by a health care team, including a dietitian, experienced in the treatment of GSD is necessary. We describe an adolescent patient with GSD Ib in good metabolic control who was admitted with a 3-month history of weakness, depression, vomiting, decreased appetite and a 11.4-kg weight loss. He had a recent onset of unsteady gait, inability to write, and sore mouth. After an extensive work-up, the patient was found to have vitamin B12, folate, iron and other nutritional deficiencies, which explained his symptoms. The patient improved within 72 h of initiation of total parenteral nutrition and therapeutic doses of deficient micronutrients, with a complete recovery in 2 months. Dietary restrictions, dependence on non-food products (e.g. cornstarch in GSD I), and social and developmental issues place individuals with metabolic disorders at a high risk for developing an array of nutritional deficiencies. This case highlights the importance of both close follow-up of the metabolic control and close monitoring of growth and nutritional intake in individuals with inborn errors of metabolism. This case also illustrates the importance of daily supplementation with appropriate multivitamins, calcium and other minerals needed to meet the Recommended Dietary Allowances (RDAs) in these patients. ( info) |