Hartnup Disease Masked by Kwashiorkor
نویسندگان
چکیده
This report describes an 11-month old girl with Hartnup disease presenting with kwashiorkor and acrodermatitis enteropathica-like skin lesions but free of other clinical findings. This case with kwashiorkor had acrodermatitis enteropathica-like desquamative skin eruption. Since zinc level was in the normal range, investigation for a metabolic disorder was considered, and Hartnup disease was diagnosed.
منابع مشابه
Natural history of Hartnup disease.
Hartnup disease was diagnosed in 12 children and 3 of their 15 sibs in the course of routine urine screening of 6-week-old infants in New South Wales. These children were followed for up to 8 years, during which time there were only two clinical episodes which might be ascribed to Hartnup disease. The mental development of all the children was normal. 10 had height centiles less than the midpar...
متن کاملSevere persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease
BACKGROUND Celiac disease (CD) is a complex autoimmune disorder that can lead to an inflammatory small intestinal villous atrophy and malabsorption. Hartnup disease is an autosomal recessive disorder caused by increased urinary excretion of neutral amino acids. Co-occurrence of Hartnup disease and CD is extremely rare with only a single case reported. CASE PRESENTATION We report a 3-year girl...
متن کاملTransport of dibasic amino acids, cystine, and tryptophan by cultured human fibroblasts: absence of a defect in cystinuria and Hartnup disease.
Transport of lysine, arginine, cystine, and tryptophan was studied in cultured skin fibroblasts from normal controls and from patients with cystinuria and Hartnup disease. Each of these amino acids was accumulated against concentration gradients by energy-dependent, saturable mechanisms. Lysine and arginine were each transported by two distinct processes which they shared with each other and wi...
متن کاملStudies on intestinal absorption of amino acids and a dipeptide in a case of Hartnup disease.
A severely affected case of Hartnup disease is reported, where the patient responded rapidly to nicotinamide. This supports the view that all the clinical features, except reduced stature from general nutritional defect, are secondary to tryptophan and nicotinamide deficiency rather than to an unknown toxic factor. Severe malabsorption of both tryptophan and phenylalanine was demonstrated. The ...
متن کاملA case of Hartnup disease.
This new disease was first described last year by Dr. Hart and Professor Dent and their colleagues (Baron, Dent, Harris, Hart and Jepson, 1956) under the title 'Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant aminoaciduria, and other bizarre biochemical features'. The name 'Hartnup disease'-after the family then described-was later used in a reference to the syndro...
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