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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A young woman presented a mixed congenital and familial immunodeficiency syndrome consisting in an absence of IgA and lowered levels of IgG and IgM, with a defect in cellular immunity. She had a mild malabsorption syndrome with slight alterations of the jejunal mucosa. Non-caseating tuberculoid granulomata were found in skin lesions, in lymph nodes and in the spleen. At age 27 the patient died of a neurological disease of 4 months duration. Autopsy revealed a very widespread demyelinating process involving mainly the right cerebellar hemisphere but also most of the pons and left cerebellum, with the typical morphologic characters of PML. In the hemispheres lesions were limited to microscopical "microglial nodules" with discrete demyelination. A review of 86 published cases of PML revealed 9 other cases in which lesions showed a strong predilection for the subtentorial territories. This sampling allows for tha assumption that some 11% of the cases of PML have this particular lesion distribution. Other pertinent features of this case are briefly discussed.
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PMID:[Progressive multifocal leucoencephalopathy. Observation with predominant pontocerebellar lesions and association with congenital immune deficiency]. 87 53

A 24 year-old patient with a short-bowel syndrome receiving home parenteral nutrition in addition to oral feeding for 32 months was treated by oral trimethoprim-sulfamethoxazole for urinary tract infection. Three days later, he developed neurologic disorders associated with severe hyperchloremic acidosis and high plasma level of D-lactate. This is a rare complication of intestinal malabsorption due to small bowel by-pass or extensive resection due to transient alteration of intestinal microflora induced by the oral antibiotic treatment. Diagnosis requires a high indice of suspicion.
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PMID:[D-lactic acidosis and encephalopathy in short-bowel syndrome occurring during antibiotic treatment]. 239 70

The neurologic manifestations of gastrointestinal disease are generally thought to be uncommon, although an increasing number of previously unidentified associations are being established. These neurologic disorders may result from nutritional or non-nutritional causes. In the absence of clear malnutrition, it is likely that many of these disorders are underdiagnosed. As an example, Wernicke's encephalopathy is found at autopsy in as many as 2 per cent of brains, a very high percentage, given the rare recognition during life. The likely underdiagnosis of nutritional neurologic disorders is unfortunate because many are treatable and, more importantly, are preventable if malabsorption is suspected and appropriate supplementation initiated. For the neurologist, familiarity with the occasional association between neurologic abnormalities and specific gastrointestinal disorders is important, as is familiarity with the neurologic characteristics of disorders, such as Whipple's disease, that may present as isolated neurologic syndromes without gastrointestinal symptoms or signs. Renewed interest in selective deficiency states has resulted in identification of causative factors in several neurologic syndromes of previously presumed degenerative etiology. Recognition of the potential neurologic consequences of prolonged deficiency states also is important for the internist, because many of the syndromes are poorly reversible once symptomatic. The benefits of prevention invariably exceed those of treatment.
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PMID:Neurologic manifestations of gastrointestinal disease. 254 60

During the recent resurgence of interest in the clinical uses of vitamin E, one of the major foci of attention has been the neurologic role of vitamin E in humans. Studies in patients with secondary vitamin E deficiency, caused by fat malabsorption disorders and total parenteral nutrition lacking an adequate supply of vitamin E, have elucidated a clinical disorder and histologic lesions of the nervous system and muscle that closely resemble those of experimental vitamin-E-deficient animal models. Investigations of the primary form of human vitamin E deficiency, the isolated vitamin E deficiency syndrome, have further substantiated the relationship between neurologic dysfunction and human vitamin E deficiency. It is now clear that vitamin E is an essential nutrient necessary for the optimal development and maintenance of the integrity and function of the human nervous system and skeletal muscle. The task for future study is to determine the mechanism by which vitamin E deficiency causes degeneration of selective regions of the nervous system and to investigate possible benefits of vitamin E supplementation in other neurologic disorders. In addition, further study of the isolated vitamin E deficiency syndrome promises to teach us more about normal physiologic mechanisms of vitamin E absorption and transport in humans.
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PMID:Vitamin E deficiency and neurologic disease. 306 Jan 70

Vitamin E deficiency has been implicated as a causal factor in neurological disease for some time. Nevertheless, only in the last 10 years have we begun to understand the role this vitamin plays in the normal functioning and structure of the nervous system. Chronic fat malabsorption syndromes are the most common causes of low levels of this highly fat-soluble vitamin. We present a case of chronic polyneuropathy due to vitamin E deficiency caused by malabsorption in which a biliary-cholonic fistula was present. Plasma tocopherol levels were normalized by parenteral substitution, leading to substantial clinical improvement. We suggest that vitamin E levels be determined in cases of digestive disorders involving malabsorption of fats and in chronic neurological diseases, particularly spinal-cerebral degenerative and polyneuropathic diseases that are mainly sensory or motor-sensory in nature, given the potential reversibility of these disorders when caused by vitamin E deficiency.
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PMID:[Chronic polyneuropathy due to vitamin E deficiency]. 794 27

A 34-year-old woman presented with walking difficulty and pain in the legs 3 years after several abdominal operations for pancreatic cancer and intestinal obstruction thereafter. Corneal erosion, loss of deep sensation in the legs, polyneuropathy, myopathy, and memory disturbance were recognized. Deficiency of multiple vitamins (A, B1, B6, D, E, K) was found. The diagnoses were vitamin A-deficient corneal erosion, vitamin K-deficient bleeding abnormality (asymptomatic), and the neurological deficits caused by vitamin E, B1, B6 and D deficiency. Although the vitamin supplement started 2 years after the onset of the neurological disease, both clinical and electrophysiological recovery was seen. She was unable to walk on admission, but became able to walk after vitamin E supplement. To our knowledge, this is the first report showing multi-vitamin deficiency causing extensive neurological, ophthalmological, and hematological deficits. Recognition of this condition would prevent the progression of potentially irreversible neurological disorders in patients with malabsorption syndrome after extensive abdominal surgery.
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PMID:[A case of various neurological deficits caused by multi-vitamin deficiency associated with malabsorption syndrome after pancreatomy and small bowel resection]. 1058 28

Four patients, three women aged 49, 47 and 74 years, and a man aged 64 years, presented with progressive sensory deficit, pyramidal tract symptoms and postural instability. Tests revealed megaloblastic anaemia and low vitamin B12 levels. Two of the female patients had undergone gynaecological surgery with nitrous oxide anaesthesia, and the male patient had undergone a gastric resection. Subacute combined degeneration of the spinal cord is a neurological disease based on vitamin B12 deficiency. It involves the posterior and lateral columns of the spinal cord, and sometimes the peripheral nerves, the optic nerve or the brain. An MRI scan of the cervical cord revealed abnormalities for three of the four patients. Following parenteral supplementation of vitamin B12, the symptoms and the MRI abnormalities either disappeared or significantly improved. Vitamin B12 deficiency can cause subacute combined degeneration of the cord by interfering with myelin synthesis. As vitamin B12 deficiency is caused by malabsorption in the gastrointestinal tract, oral supplementation is insufficient. It is essential to recognise this treatable disease at an early stage, and not to reject the possible diagnosis if the MRI findings are abnormal. Simple blood tests can lead to the diagnosis and to effective treatment.
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PMID:[Subacute combined degeneration of the spinal cord: easy diagnosis, effective treatment]. 1172 22

Vitamin E deficiency causes a neurological disorder characterised by sensory loss, ataxia and retinitis pigmentosa due to free radical mediated neuronal damage. Symptomatic vitamin E deficiency has been reported in genetic defects of the vitamin E transport protein and in malabsorption complicating cholestasis, abetalipoproteinaemia, celiac disease, cystic fibrosis and small bowel resection. There are no reports to date of vitamin E deficiency in patients with primary immunodeficiencies. We describe two CVID patients with the associated enteropathy who developed neurological disease because of vitamin E deficiency, suggesting a possible predisposition to developing this complication. We recommend that all CVID patients with evidence of an enteropathy be screened for vitamin E deficiency, as early detection and consequent treatment may prevent, halt or reverse the neurological sequelae.
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PMID:Vitamin E deficiency induced neurological disease in common variable immunodeficiency: two cases and a review of the literature of vitamin E deficiency. 1520 78

Bile acid synthetic defects represent a specific category of metabolic liver disease. This article highlights the history and summarizes our analytical approach to the diagnosis and treatment of genetic defects in bile acid synthesis. By the application of mass spectrometry as a screening tool, it is possible to perform rapid diagnosis of potential inborn errors in bile acid synthesis from urinary bile acid analysis. Molecular techniques then afford the identification of specific mutations in genes encoding the enzymes responsible for bile acid synthesis. Using this approach, 6 of the 7 known genetic defects that are causes of progressive cholestatic liver disease, syndromes of fat-soluble vitamin malabsorption, or neurological disease, have been characterized. Bile-acid therapy using oral cholic acid has proven effective in most of these bile acid synthetic defects making early diagnosis crucial to optimum clinical prognosis.
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PMID:Defects in bile acid biosynthesis--diagnosis and treatment. 1681 96

Morbidly obese patients often have nutritional deficiencies, particularly in fat-soluble vitamins, folic acid and zinc. After bariatric surgery, these deficiencies may increase and others can appear, especially because of the limitation of food intake in gastric reduction surgery and of malabsorption in by-pass procedures. The latter result in more important weight loss but also increase the risk of more severe deficiencies. The protein deficiency associated with a decrease in the fat-free mass has been described in both procedures. It can sometimes require an enteral or parenteral support. Anemia can be secondary to iron deficiency, folic acid deficiency and even to vitamin B12 deficiency. Neurological disorders such as Gayet-Wernicke encephalopathy due to thiamine deficiency, or peripheral neuropathies may also be observed. Malabsorption of fat-soluble vitamins and other nutrients, especially if diagnosed after by-pass surgery, rarely cause clinical symptoms. However, some complications have been reported such as bone demineralization due to vitamin D deficiency, hair loss secondary to zinc deficiency or hemeralopia from vitamin A deficiency. A careful nutritional follow-up should be performed during pregnancy after obesity surgery, because possible deficiencies can affect the health of both the mother and child. In conclusion, increased awareness of the risk of deficiency and the systematic dosage of micronutrients are needed in the pre- and postoperative period in obese patients undergoing bariatric surgery. The case by case correction of these deficiencies is mandatory, and their systematic prevention should be evaluated.
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PMID:[Nutritional deficiencies associated with bariatric surgery]. 1748 73


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