1/18. Malnutrition-associated rash of cystic fibrosis.Rash is a rare presenting sign of cystic fibrosis (CF) complicated by protein-calorie malnutrition. We measured essential fatty acid (EFA) levels in the serum of a 4-month-old girl with an erythematous, desquamating, periorificially accentuated rash in association with malnutrition and her 2-year-old sister who was diagnosed concurrently with CF but had no rash or signs of malnutrition. Both patients had biochemical evidence of EFA deficiency, suggesting that development of the rash is multifactorial. Clinical presentation, management, and possible modes of pathogenesis of the rash are reviewed. Pathogenesis of the rash appears to involve a complex interaction among deficiencies of EFAs, zinc, protein, and possibly copper, leading to disordered prostaglandin metabolism or cytokine production, or free radical-induced damage to cellular membranes due to a lack of nutrient-derived protective antioxidants.- - - - - - - - - - ranking = 1keywords = malnutrition (Clic here for more details about this article) |
2/18. Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case.A 15-month-old girl with severe hemolytic anemia and progressive respiratory failure is presented. She was well until the age of six months when she developed a pulmonary infection. During the next six months, she had frequent respiratory infections and her paleness became evident. At the age of 12 months, she was observed to have easy fatigability and muscle weakness, and she received her first blood transfusion. She was referred to our hospital at the age of 15 months. The physical examination revealed a malnourished girl with hypotonia, nystagmus, generalized muscle weakness and severe breathing difficulty requiring ventilatory support The hemoglobin (Hb) was 9.7 g/dl; hematocrit (Hct) 29%, mean corpuscular volume (MCV) 101 fl and reticulocyte count 15%. Peripheral blood smear revealed macrocytosis and stomatocytosis (30% of the red cells) and polychromasia. sweat chloride test was 90 and 94 mEq/L on two separate occasions. The serum vitamin e level was 0.26 mg/dl (N: 0.44-0.68). She was found to be heterozygous for factor v Leiden mutation. Although malnutrition, low serum vitamin e and elevated sweat chloride test were suggestive of cystic fibrosis, this diagnosis failed to account for all the findings in the patient. A search for a red cell enzyme deficiency revealed that the red cell triosephosphate isomerase (TPI) activity was low. dna analysis showed the 315 G-C (105 Glu-Asp) TPI mutation, thus confirming the diagnosis of TPI deficiency.- - - - - - - - - - ranking = 0.33333333333333keywords = malnutrition (Clic here for more details about this article) |
3/18. dermatitis as a presenting sign of cystic fibrosis.BACKGROUND--Three percent to 13% of patients with cystic fibrosis present with protein-energy malnutrition that is characterized by hypoproteinemia, edema, and anemia and is associated with high morbidity and mortality. Cutaneous manifestations of malnutrition are rare in patients with cystic fibrosis and have been attributed to deficiencies of protein, zinc, and essential fatty acids. OBSERVATIONS--We describe five patients who presented with failure to thrive, hypoproteinemia, edema, and a cutaneous eruption before the onset of pulmonary symptoms and before the diagnosis of cystic fibrosis was made. The rash had a predilection for the extremities (lower > upper), perineum, and periorificial surfaces. In most cases, erythematous, scaling papules developed by 4 months of age and progressed within 1 to 3 months to extensive, desquamating plaques. alopecia was variable, and mucous membrane or nail involvement was not observed. The rash was associated with malnutrition and resolved in all survivors within 10 days of providing pancreatic enzyme and nutritional supplementation. The pathogenesis of the rash is unclear, but it appears to stem from deficiencies of zinc, protein, and essential fatty acids and may be mediated by alterations in prostaglandin metabolism. CONCLUSIONS--cystic fibrosis should be included in the differential diagnosis of the red, scaly infant, particularly when failure to thrive, hypoproteinemia, and edema are also present. Recognition of rash as a sign of cystic fibrosis complicated by protein-energy malnutrition will allow earlier diagnosis and treatment of these patients and may improve their outcome.- - - - - - - - - - ranking = 1.3333333333333keywords = malnutrition (Clic here for more details about this article) |
4/18. Novel CFTR mutations in black cystic fibrosis patients.cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected patients from Central africa. We report here four novel mutations, i.e., IVS2 28 (intron 2), 459T > A (exon 4), EX17a_EX18del (exons 17-18), and IVS22 IG > A (intron 22), in such patients. An update of CFTR mutations reported in black patients from various ethnies is included. These data might be helpful for genetic counselling regarding CF in black patients.- - - - - - - - - - ranking = 0.33333333333333keywords = malnutrition (Clic here for more details about this article) |
5/18. Severe CF manifestation with anaemia and failure to thrive in a 394delTT homozygous patient.We report on a 394delTT homozygous cystic fibrosis (CF) patient with severe disease progression. At the diagnosis made at the age of 2.5 months, he suffered from macrocytic anaemia as the most prominent symptom of CF, malnutrition, hypoproteinaemia and profound hypoalbuminaemia, but demonstrated only minimal pulmonary symptoms. Abnormal sweat chlorides confirmed the diagnosis of CF. Severe pulmonary and liver disease caused death after 6 years.- - - - - - - - - - ranking = 0.33333333333333keywords = malnutrition (Clic here for more details about this article) |
6/18. noma: life cycle of a devastating sore - case report and literature review.noma (cancrum oris) is an orofacial gangrene, which during its fulminating course causes progressive and mutilating destruction of the infected tissues. The disease occurs mainly in children with malnutrition, poor oral hygiene and debilitating concurrent illness. noma is well documented in the literature, but because most patients do not report to a doctor until the disease is at an advanced stage, its onset and progression remain a mystery. This case report, with a survey of recent relevant literature, highlights the different stages in the development of tissue necrosis, including onset and progression, with an emphasis on the need for early diagnosis and prompt treatment.- - - - - - - - - - ranking = 0.33333333333333keywords = malnutrition (Clic here for more details about this article) |
7/18. Behavioral assessment and management of food refusal in children with cystic fibrosis.Four children with cystic fibrosis, ranging in age from 10 to 40 months, were admitted to a specialized pediatric unit for evaluation and treatment of malnutrition. All were below the fifth percentile for weight despite appropriate pancreatic enzyme replacement and outpatient nutritional counseling. Dietary evaluation revealed oral intake of 48% to 62% of that required for growth. Standardized nursing and psychological assessments of feeding behaviors during meals indicated a low acceptance rate of foods and a high rate of maladaptive feeding behaviors. Treatment consisted of behavioral management using positive reinforcement of food acceptance, extinction of negative behaviors, and parent training. Mean percentage of caloric intake increased from 54% to 92% for the four patients. At long-term follow-up, the patients who continued the program demonstrated substantial and persistent catch-up growth. Behavioral feeding disorders may contribute to failure to thrive in patients with cystic fibrosis and must be considered when growth failure occurs despite correct medical management and apparently mild pulmonary and gastrointestinal involvement.- - - - - - - - - - ranking = 0.33333333333333keywords = malnutrition (Clic here for more details about this article) |
8/18. Massive hepatomegaly, steatosis, and secondary plasma carnitine deficiency in an infant with cystic fibrosis.hepatomegaly and steatosis are common findings in children with cystic fibrosis and are most often attributed to malnutrition. An infant fed a carnitine-free soy formula is described. Massive hepatomegaly and steatosis developed in the baby at a time of severe viral respiratory illness, prolonged fasting, hypoglycemia, and hypoketonuria. The infant was found to have secondary plasma carnitine deficiency and excessive loss of carnitine in the urine as part of a more generalized renal tubular dysfunction accompanying vitamin d deficiency and secondary hyperparathyroidism. With correction of the metabolic abnormalities and institution of a high carnitine diet, the hepatomegaly disappeared, plasma carnitine returned to normal levels, and the renal carnitine loss ceased. The findings suggest that secondary carnitine deficiency may play a role in fatty infiltration of the liver in patients with cystic fibrosis, especially during times of severe fasting stress.- - - - - - - - - - ranking = 0.33333333333333keywords = malnutrition (Clic here for more details about this article) |
9/18. Advanced xerophthalmia as a presenting sign in cystic fibrosis.xerophthalmia is a common complication of vitamin a deficiency in communities where malnutrition is found. We report on a 16-month-old infant with severe photophobia and failure to thrive. On examination, her major presenting sign was corneal xerosis, with corneal and conjunctival keratinization, and corneal stromal edema with opacification. Based on these findings, vitamin a deficiency secondary to fat malabsorption was suspected, and a workup confirmed the diagnosis of cystic fibrosis. With parenteral vitamin A supplementation, she had complete resolution of her ocular signs and symptoms. This case illustrates the value of a complete ophthalmic examination in the diagnosis of fat malabsorption syndromes.- - - - - - - - - - ranking = 0.33333333333333keywords = malnutrition (Clic here for more details about this article) |
10/18. Improved exercise tolerance with long-term parenteral nutrition in cystic fibrosis.Two cystic fibrosis (CF) patients with severe pulmonary disease and malnutrition were followed during a course of long-term home total parenteral nutrition (TPN), which included iv fat emulsion. They gained 7 and 12 kg in body weight, respectively, and their ability to participate in daily activities increased. Progressive exercise testing before and during TPN showed a marked increase in maximal work load: 100% and 30%, respectively. At any given work load, oxygen uptake was increased while the respiratory quotient remained lower after the course of TPN. We believe that the lower respiratory quotient and greater oxygen consumption during exercise were due to a reduction in anaerobic metabolism after TPN.- - - - - - - - - - ranking = 0.33333333333333keywords = malnutrition (Clic here for more details about this article) |
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