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Nutritional Deficiencies
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Deepa Bhupali, Fernando D. Testai
Vitamin B6 deficiency may be inherited or acquired. Inborn errors leading to vitamin B6 deficiency may affect its synthesis, transport, or intracellular metabolism. Acquired vitamin B6 deficiency commonly occurs in association with: Alcohol dependence.Pregnancy.Older age.Hemodialysis and peritoneal dialysis.Malabsorption syndromes.Drugs: isoniazid, penicillamine, cycloserine, theophylline, and hydralazine. Vitamin B6 deficiency has also been described in association with phenytoin and carbamazepine.
Lysinuric protein intolerance
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Most infants present with anorexia, vomiting and finally full-blown failure to thrive (Figures 32.2, 32.3, and 32.4) [3]. There may be alopecia. Subcutaneous fat is diminished or absent, and the skin folds loose. Diarrhea may suggest a malabsorption syndrome. Skin lesions may resemble those of kwashiorkor or acrodermatitis, and zinc deficiency (Figures 32.2 and 32.3). A dry scaly rash is sometimes seen, as well as sores on the sides of the mouth [16]. Dystrophic nails may contribute to the picture of acrodermatitis enteropathica (Figure 32.4). A five-year-old boy with chronic diarrhea and pitting edema of the lower extremities was thought to have celiac disease because villous atrophy was found on intestinal biopsy [16]. There was no improvement with a gluten-free diet. There is usually some hepatomegaly and muscular hypotonia. The spleen may be palpable. Body weight is reduced, and linear growth falls off. Of 20 Finnish patients [6], 16 had heights that were 2–6 SDs below the mean. Head circumference is normal. Skeletal maturation is usually delayed. Anemia is the rule, leukopenia common, and serum ferritin highly elevated. Increased plasma concentrations of cholesterol and triglycerides are frequently increased [17]. As in protein-deficient malnutrition (Kwashiorkor), there is fatty degeneration, and inflammation of the liver.
Unexplained Fever Associated with Diseases of the Gastrointestinal Tract
Published in Benedict Isaac, Serge Kernbaum, Michael Burke, Unexplained Fever, 2019
The malabsorption syndrome is defined as an impairment of the small bowel to absorb normal dietary constituents such as fat, protein, carbohydrates, essential minerals, and vitamins. The principal clinical features are diarrhea, steatorrhea, weight loss, weakness, edema, tetany, muscle cramps, osteoporosis, bleeding diathesis, and anemia. The diagnosis depends upon the demonstration of abnormal fecal fat loss, decreased xylose or vitamin B12 absorption, small bowel X-ray, and peroral jejunal biopsy.
Intestinal Giardiasis in Children Undergoing Upper Endoscopy for Unexplained Gastrointestinal Symptoms: Implication for Diagnosis
Published in Fetal and Pediatric Pathology, 2023
Nora E. Saleh, Hend M. Sharaf, Hossam I. Elnemr, Sherine M. Elzeiny, Khadiga M. Ali, Nairmen Nabih
Although duodenal aspirate microscopic examination can detect Giardia trophozoites, duodenal biopsies have a better detection rate [35]. A prospective study showed that there was no difference between duodenal biopsy and duodenal aspirate in the detection of Giardia infection, however, biopsy acquisition was recommended due to cost [42]. According to Santos et al. [43], no endoscopic or histopathologic finding was pathognomonic of parasitic infection and 1% of duodenal endoscopic biopsies showed parasites. Endoscopic diagnosis could be of lower sensitivity for Giardia infection detection compared to routine stool examination methods. In cases of repeated negative stool testing, endoscopy may be necessary to rule out malabsorption syndromes, in addition to potential identification of Giardia trophozoites in the biopsy [44].
Current knowledge for the microbiological diagnosis of Tropheryma whipplei infection
Published in Expert Opinion on Orphan Drugs, 2020
Sophie Edouard, Léa Luciani, Jean-Christophe Lagier, Didier Raoult
Protean clinical entities involving T. whipplei have been described including systemic generalized or localized chronic infection, acute infection, and asymptomatic carriage [15,16]. Classic Whipple’s disease is a rare clinical entity with an estimated prevalence from 3/1,000,000 in Italy [26] to 9.8/1,000,000 in the United States [27], mainly affecting middle-aged white men. This chronic infection is characterized by a malabsorption syndrome associated with duodenal involvement resulting in gastrointestinal disorders, including diarrhea, abdominal pain, and weight loss [16]. Intermittent arthralgias are present in between 73% and 80% of patients during the early stage of the disease, which takes place many months or years before the onset of gastrointestinal manifestations [16,28]. Other extra-digestive symptoms may be associated, including neurological disorders (6–63% of cases), as well as endocarditis [28]. Nonspecific clinical findings such as asthenia, fever, adenopathy, cough, headache, or myalgia are also been frequently observed.
Challenges and opportunities in the diagnosis of nutritional optic neuropathy
Published in Expert Review of Ophthalmology, 2020
Among people with malabsorption syndromes other than pernicious anemia, multiple micronutrient deficiencies may co-exist. For example, celiac disease, inflammatory bowel disease and, in recent decades, people who have undergone bariatric surgery are all at risk of developing multiple nutritional deficiencies that affect vision, including A and B vitamins and copper [13,14,15]. Purely dietary causes of nutritional optic neuropathy are less common in developed countries but can also result in multiple combined nutritional deficiencies [16]. For example, many individuals profess to follow restrictive diets of various sorts to promote their health, but actually have an underlying eating disorder [17]. Children on the autism spectrum are particularly prone to restrictive eating behaviors [18]. It is important to remember that any diet limited to only a few food types can lead to multiple nutritional deficiencies despite an adequate calorie intake. Hence, body mass index is not a good indicator of nutritional status [16].