Hartnup disease masked by kwashiorkor

J Health Popul Nutr. 2010 Aug;28(4):413-5. doi: 10.3329/jhpn.v28i4.6049.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Acrodermatitis / complications
  • Amino Acids, Neutral / urine
  • Buttocks / pathology
  • Diagnosis, Differential
  • Fatal Outcome
  • Female
  • Hartnup Disease / complications*
  • Hartnup Disease / diagnosis*
  • Hartnup Disease / urine
  • Humans
  • Indican / urine
  • Infant
  • Kwashiorkor / complications*
  • Kwashiorkor / urine
  • Perineum / pathology
  • Turkey

Substances

  • Amino Acids, Neutral
  • Indican