Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A middle-aged man developed impotence, gynaecomastia, peripheral neuropathy, pigmentation lymphadenopathy, scleroderma, malabsorption and Raynaud's phenomenon following prolonged exposure to trichlorethylene. Somes, but not all, of these features have previously been reported in vinyl chloride disease, and trichlorethylene is related chemically to vinyl chloride. Seven patients with a similar but not identical syndrome have been described in Japan and U.S.A., apparently unrelated to exposure to industrial toxins.
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PMID:A new syndrome with pigmentation, scleroderma, gynaecomastia, Raynaud's phenomenon and peripheral neuropathy. 21 95

Four patients with chronic non-specific ulcerative duodenojejunoileitis (CNSUDJI) are reported. The clinical picture included abdominal pain, fever, and a malabsorption syndrome. Main rediological findings were diffuse narrowing of the jejunal loops with total effacement of the mucosal folds. Multiple peroral biopsies of the small intestine showed various degrees of mucosal abnormalities from total villous atrophy to normal villi, but ulcerations were diagnosed only by operative full thickness biopsies or resection of the small bowel. The ulcerative process was associated with well-documented coeliac disease in two patients: in one of them it occurred as a fatal complication involving also the colon, three years after the start of a gluten free diet, while the disease was in full clinical and histological remission. In the other case, coeliac disease was revealed by obstructive symptoms due to stenosing ulcerations; five months after surgical resection of the stenosis, institution of a gluten free diet induced a dramatic improvement. In the two other patients ulcerations were not associated with coeliac disease: one of them had a patchy villous atrophy and resisted a gluten free diet and total parenteral nutrition; she was improved by and dependent upon steroids but finally died. The last patient had normal villous height; ulcerations were located exclusively along the mesenteric border of the small bowel; he had a low-grade protracted evolution resisting any form of therapy and developed a peripheral neuropathy of unknown aetiology. On the basis of our cases and of a review of the literature the discussion focuses on the difficulty in diagnosing CNSUDJI, its relationship with coeliac disease, and its management and prognosis.
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PMID:Chronic non-specific ulcerative duodenojejunoileitis: report of four cases. 44 13

Although a neuromuscular syndrome has been induced experimentally by vitamin E deficiency, a human syndrome has not yet been documented. This report describes a 7-year-old boy with severe malabsorption since birth who presented with progressive external ophthalmoplegia, proximal muscle weakness, peripheral neuropathy, hyporeflexia, and bilateral Babinski signs. Abnormalities on neurologic examination included elevated creatine phosphokinase and aldolase, slowed distal sensory latencies, type II muscle fiber atrophy, and a plasma vitamin E level of 8 microgram per deciliter (normal, 550-1500 microgram per deciliter). Treatment with oral water-solubilized vitamin E (400 IU daily; greater than 50 times the normal daily intake) was begun, with repeat laboratory studies at 3-month intervals. Over a 16-month period, plasma vitamin E content gradually increased to 350 microgram per deciliter, associated with declining sarcoplasmic enzyme activities and clinical improvement.
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PMID:Reversibility of human myopathy caused by vitamin E deficiency. 57 10

Three siblings, offspring of normal consanguineous parents, had a progressive neurological disorder characterized primarily by chorea and leading to death in the fourth or fifth decade. The most carefully studied patient had neither malabsorption nor absent serum beta-lipoprotein but did have erythrocyte acanthocytosis. Postmortem examination showed marked neuronal loss and gliosis of the caudate nucleus and putamen. Activities of glutamic acid decarboxylase and choline acetyltransferase were normal in cortex, caudate, and putamen. Autosomal recessive inheritance, acanthocytosis, and probable peripheral neuropathy help differentiate this disorder from Huntington's disease.
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PMID:Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological, and neurochemical study. 66 66

A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. A metabolic disturbance consisted of lactic acidosis after moderate glucose loads with increased excretion of hydroxybutyric and fumaric acids. Post-mortem studies revealed gastrointestinal scleroderma as the morphological manifestation of her malabsorption syndrome, ocular and skeletal myopathy with ragged red fibers, peripheral neuropathy, vascular abnormalities of meningeal and peripheral nerve vessels. Biochemical examination of the liver and muscle tissues revealed a partial defect of cytochrome-c-oxidase (complex IV of the respiratory chain). This mitochondrial multisystem disorder may represent a separate entity to be classified between the spectrum of myoencephalopathies and oculo-gastrointestinal muscular dystrophy.
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PMID:Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. 282 22

Whipple's disease is an inflammatory illness primarily afflicting middle-aged men. Although originally seen as a disease of intestinal malabsorption, it may affect any body system causing numerous signs and symptoms. These are due to infiltration of macrophages containing sickleform particles which stain PAS-positive. Definitive diagnosis is made by biopsy, and treatment is with broad-spectrum antibiotics. There seems to be an infectious component to the disease although defective immunologic responses may be implicated. Exact etiology is unknown. Although a rare illness, there has recently been increased recognition of this disease. Neurological involvement occurs with dissemination of lesions to the nervous system. Symptoms are quite varied but most often include dementia. As is apparent from the patient history, early diagnosis and treatment is imperative. Even without symptoms, there should probably be treatment for central nervous system involvement since neurological manifestations are often fatal. The case study presented illustrates a multisystem illness. The neurological presentation includes peripheral neuropathy, cranial nerve involvement, brainstem dysfunction, endocrine disturbance, thalamic or pituitary symptoms, and changes in cerebral function. Nursing measures reinforce the importance of the role of primary nursing for patient care and the necessity of comprehensive nursing care plans. Management problems were alleviated by providing consistency and continuous orientation, by involving the patient and his family in the plan of care, and by establishing a safe and consistent environment. Nursing process can improve and enhance patient responses, family coping ability, and the quality of care given. A "difficult" patient can help to expand nursing knowledge as well as promote personal growth and satisfaction.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Neurological involvement with Whipple's disease. 620 14

A 57-year-old woman developed dementia and peripheral neuropathy 16 years after a partial gastrectomy (Billroth II). Serum cobalamin was 198 pmol/l (reference interval 150-550), and the vitamin B12 absorption test (Schilling) showed decreased absorption (1.7% without and 2.2% with intrinsic factor). In spite of 20 months' therapy with vitamin B12, the neurological symptoms progressed. Folate deficiency was suggested by a very low erythrocyte folate and a slightly abnormal FIGLU test. There were no other signs of general malabsorption. A few months' treatment with folic acid significantly improved the massive neurological manifestations which were verified neurophysiologically as well as histologically. A common role of vitamin B12 and folate in the development of neuropathy is suggested.
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PMID:Reversible dementia and neuropathy associated with folate deficiency 16 years after partial gastrectomy. 625 53

Brown bowel syndrome is the name applied to a brown discoloration of the intestine. This is due to lipofuscin deposition in intestinal smooth muscle and occurs in association with malabsorption. Three cases occurring in a coeliac registry of 559 patients are described. One patient presented with acute massive bleeding per rectum, and two were diagnosed at autopsy. The syndrome may be accompanied by vitamin E deficiency and neurologic dysfunction. Two patients had evidence of peripheral neuropathy, and one had low vitamin E levels. Concomitant vitamin D deficiency was present. Fat-soluble vitamin malabsorption, especially if there is a poor response to a gluten-free diet or neuropathy, might alert the clinician to the possibility of brown-bowel syndrome and suggests careful search for lipofuscin in biopsy material, using special histologic techniques.
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PMID:Brown bowel syndrome occurring in coeliac disease in the west of Ireland. 812 83

The literature on folate related neuropathy has been reviewed. Twenty patients fulfilled the following criteria (a) they presented with neurological findings for which no other cause could be found (b) the serum or red cell and/or the CSF folate was low (c) the serum vitamin B12 or vitamin B12 absorption was normal and (d) they showed a significant response to folic acid. Ten presented with a peripheral neuropathy, eight with subacute combined degeneration of the cord and two with a myelopathy. In two patients the neuropathy occurred when treatment for congenital malabsorption of folate--an isolated lesion affecting folate alone--lapsed. Two patients with subacute combined degeneration died and posterio-lateral sclerosis of the cord was confirmed at autopsy. Three patients were mentally retarded and nine showed mental changes which also responded to folate in addition to the neurological disorder. A single biochemical reaction, the methionine synthetase reaction, is suggested as the basis for the neurological as well as the haematological consequences of both vitamin B12 and folate deficiency. The pitfalls in diagnosis are discussed and a greater awareness of the condition urged.
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PMID:Folate responsive neuropathy. 817 46

A 22-year-old man presented with progressive gait instability, tremor, and dysarthria since childhood. Electrophysiologic studies revealed a sensorimotor polyneuropathy. Laboratory studies documented vitamin E deficiency; however, no gastrointestinal, hepatic, or lipoprotein disorder could be identified. Vitamin E therapy normalized the serum level, but there was no neurologic improvement. Isolated vitamin E deficiency, in the absence of lipid malabsorption, should be considered in the evaluation of children and adults with ataxia and peripheral neuropathy.
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PMID:Isolated vitamin E deficiency. 876 Dec 74


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