A case of Hartnup disease.
نویسنده
چکیده
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 syndrome by Harris (1957) and is that at present preferred by the original authors. No further accounts of cases have yet been published in this country and it seemed, therefore, that the following case was worthy of record. A brief reference to two further cases in Holland has been made by Jonxis (1957).
منابع مشابه
Hartnup Disease Masked by Kwashiorkor
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 dia...
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 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 کاملNatural 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 کاملAbsorption of amino acids and peptides in a child with a variant of Hartnup disease and coexistent coeliac disease.
Tarlow, M. J., Seakins, J. W. T., Lloyd, J. K., Matthews, D. M., Cheng, B., and Thomas, A. J. (1972). Archives of Disease in Childhood, 47, 798. Absorption ofamino acids and peptides in a child with a variant of Hartnup disease and coexistent coeliac disease. A child with a variant of Hartnup disease and coexistent coeliac disease is described. Oral tolerance tests with L-histidine, L-tyrosine,...
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عنوان ژورنال:
- Archives of disease in childhood
دوره 33 168 شماره
صفحات -
تاریخ انتشار 1958