Cases reported "Deficiency Diseases"

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11/51. selenium deficiency in long-term total parenteral nutrition.

    Although selenium is an essential trace element, it is often not routinely added to total parenteral nutrition (TPN) formulations. When selenium is not added, patients are at risk for selenium deficiency. This report describes such a patient. He had several operations for colon cancer, including a massive resection of the small bowel that resulted in a short bowel and a fistula. TPN was started after his last operation. After he was discharged, he had a normal, active lifestyle, except that he limited oral intake to water and an occasional soft drink. After 3 years of almost exclusive nourishment by TPN, he developed whitened nail beds. Investigation for possible trace element deficiency resulted in a finding that he had very low levels of selenium in his blood. He did not have any of the cardiac or skeletal muscle abnormalities that have been associated with selenium deficiency. After supplementation with selenium, his blood levels of selenium rose and the nail bed changes were reversed.
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12/51. Isolated adrenocorticotropic hormone deficiency secondary to hypothalamic deficit of corticotropin releasing hormone.

    A 42-year-old man and a 51-year-old woman with a positive history of weakness and gastrointestinal complaints were shown to have low basal plasma cortisol and ACTH levels, and low daily urinary excretion of free cortisol. An empty sella was found in patient no. 1, while patient no. 2 was hypothyroid. Both patients showed a normal plasma cortisol response to ACTH and an increment in plasma ACTH and lipotropin levels after ovine CRH (oCRH), lysine vasopressin (LVP) and oCRH-LVP stimulation tests. These studies clearly report an isolated idiopathic ACTH deficiency due to a deficit in CRH in two adult subjects.
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13/51. Recurrent recalcitrant gingival hyperplasia and plasminogen deficiency: a case report.

    BACKGROUND: Recurrent gingival hyperplasia due to plasminogen deficiency is a rare condition due to fibrin deposition in the connective tissue. Only eight cases have previously been reported in the English literature, and all cases were diagnosed before the age of 35 years. This paper presents an older patient with recurrent gingival hyperplasia due to plasminogen deficiency (hypoplasminogenemia). methods: A 59-year-old woman presented with recurrent gingival swelling of 6 years' duration. Multiple biopsies performed at various time periods were histologically reported to be gingival hyperplasia with chronic inflammation. Routine hematoxylin and eosin (H & E) staining and direct immunofluorescence were performed. RESULTS: H & E-stained sections showed subepithelial, eosinophilic, amorphous, acellular deposits. Direct immunofluorescence showed positive staining for fibrin, immunoglobulin (Ig) G, IgA, and IgM. Functional plasminogen and plasminogen activator inhibitor-1 assays were done and found to be deficient. A diagnosis of gingival hyperplasia due to plasminogen deficiency (hypoplasminogenemia) was rendered. CONCLUSIONS: Recurrent gingival hyperplasia due to plasminogen deficiency (hypoplasminogenemia) is a newly recognized and rare condition. H & E staining, direct immunofluorescence, and assessment of functional plasminogen levels are essential to differentiate this condition from other conditions in which subepithelial, eosinophilic, amorphous materials are deposited.
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14/51. Myelopathy due to copper deficiency following gastrointestinal surgery.

    BACKGROUND: Ataxic myelopathy due to copper deficiency has been described in ruminant animals and is called swayback. Neurological manifestations due to inherited copper deficiency secondary to the failure of intestinal copper absorption is well recognized as Menkes disease. The neurological consequences of acquired copper deficiency in humans are not well described. OBJECTIVE: To report 2 cases where patients developed a myelopathy with copper deficiency after gastrointestinal surgery.patients Two patients developed a myelopathy many years after gastrointestinal surgery. Both had severe copper deficiency, which was the likely cause of the myelopathy. CONCLUSIONS: Acquired copper deficiency may present as a myelopathy. Gastrointestinal surgery and resulting decreased copper absorption may be causative.
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15/51. Essential fatty acid deficiency in infants receiving parenteral nutrition.

    The clinical and biochemical features of essential fatty acid deficiency are described in an infant with gastroschisis who required long-term (6 mo) parenteral nutrition. The deficiency responded to therapy with Intralipid, topical sunflower oil, and breast milk. In a prospective study of three infants with gastroschisis, biochemical essential fatty acid deficiency developed in each during the first week of lipid-free parenteral nutrition; clinical signs of the deficiency were absent. The biochemical features were progressive in the one patient followed for 19 days, and were associated with a decrease in weight gain. Both the deficiency and weight gain were corrected by Intralipid. Biochemical essential fatty acid deficiency did not develop in three other gastroschisis infants who were given prophylactic Intralipid (two patients) or topical sunflower oil (one patient). We conclude that all infants on parenteral nutrition should receive a source of linoleic acid to prevent essential fatty acid deficiency.
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16/51. necrolytic migratory erythema: first symptom of a glucagonoma. A case report.

    necrolytic migratory erythema (NME) is a rare skin condition consisting of migrating areas of erythema with blisters that heal with hyperpigmentation. NME is a pathognomonic feature of a glucagonoma. When confronted with a xerosis cutis one should always exclude the possibility of a NME caused by a glucagonoma as demonstrated in this case report where the rash was wrongly attributed to an acrodermatitis enteropathica due to zinc deficiency. We describe a case of a glucagonoma with its classic features, diagnosis and treatment.
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17/51. Lethal toxicity after 5-fluorouracil chemotherapy and its possible relationship to dihydropyrimidine dehydrogenase deficiency: a case report and review of the literature.

    5-fluorouracil (5-FU) is a chemotherapeutic agent widely used in the treatment of solid malignancies, especially in colorectal cancer. A characteristic note seen with its use is the considerable interindividual variation in the incidence and severity of the toxicities seen among patients. We report the case of a 55-year old woman who presented with severe, lethal toxicity to standard doses of 5-fluorouracil (5-FU) and folinic acid. We discuss the known clinical determinants of toxicity. We also discuss the possible molecular factors implicated in the variable toxicity seen to 5-FU, especially in regards to dihiyropyrimidine dehydrogenase, a pivotal enzyme in the metabolism of 5-FU.
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18/51. mars treatment for a patient presenting with acquired hepatic glutamine synthetase deficiency after orthotopic liver transplantation.

    We report a 48-year-old man presenting with refractory hyperammonemia after orthotopic liver transplantation. On investigation he was found to have acquired hepatic glutamine synthetase deficiency, a rare condition that occurs after organ transplantations. The patient was started on continuous venovenous hemofiltration treatment, but the hyperammonemia did not respond. The patient was then subjected to molecular adsorption recirculation system (mars) therapy and the ammonia level gradually improved with successive treatments. In conclusion, the response was unlikely due to the hemofiltration component of mars alone but more probably due to the removal of putative albumin-bound toxin by the adsorption circuit that had ameliorated the internal milieu of the graft and reversed the enzyme deficiency.
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19/51. Biotin deficiency in an infant fed with amino acid formula.

    Biotin deficiency is rarely encountered in an infant on weaning from breast and formula feeding. It is characterized by alopecia and scaly, erythematous dermatitis distributed around the body orifices. We report a 5-month-old Japanese infant with typical skin lesions who had been diagnosed as a neonate with dyspepsia and fed only an amino acid formula. serum and urine levels of biotin were below the normal range, but zinc and biotinidase were within normal range. Urinary excretion of 3-methylcrotonylglycine, 3-hydroxyisovaleric acid, and methylcitric acid was significantly elevated. Daily oral supplementation with 1 mg of biotin resulted in dramatic improvement of the periorificial dermatitis and hair growth together with a complete disappearance of the organic aciduria. Our case shows that the characteristic skin manifestations are the most important clue to the diagnosis of biotin deficiency and demonstrated that urinary excretion of biotin and organic aciduria, rather than the serum concentration of biotin, are the sensitive indicators for evaluating the patient's status of biotin deficiency.
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20/51. 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.
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