Limits...
Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease.

Ciecierega T, Dweikat I, Awar M, Shahrour M, Libdeh BA, Sultan M - BMC Pediatr (2014)

Bottom Line: Celiac disease (CD) is a complex autoimmune disorder that can lead to an inflammatory small intestinal villous atrophy and malabsorption.She was diagnosed with celiac disease, which did not improve on gluten free diet.Niacin was started and followed by dramatic improvement.

View Article: PubMed Central - PubMed

Affiliation: New York Presbyterian, Weill Cornell Medical College, New York, USA. ciecierega@gmail.com.

ABSTRACT

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 with chronic diarrhea, Hypoalbuminemia and exfoliative erythema. She was diagnosed with celiac disease, which did not improve on gluten free diet. Hartnup disease was suspected and was confirmed by neutral aminoaciduria. Niacin was started and followed by dramatic improvement.

Conclusion: Presence of Celiac and Hartnup disease in single individual is very rare. Complete nutritional assessment of refractory celiac patient can reveal underlying nutritional deficiency.

Show MeSH

Related in: MedlinePlus

Initial Presentation: significant photosensitivity with severe scaly desquamating skin rash and hyperpigmentation involving the face, neck, lower and upper extremities.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
getmorefigures.php?uid=PMC4308912&req=5

Fig1: Initial Presentation: significant photosensitivity with severe scaly desquamating skin rash and hyperpigmentation involving the face, neck, lower and upper extremities.

Mentions: A 3-year-old Palestinian girl was referred with primary complains of persistent chronic diarrhea and hypoalbumenemia since one year of age. Additional symptoms included significant photosensitivity and severe scaly skin rash involving face, neck, lower and upper extremities (Figure 1).Figure 1


Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease.

Ciecierega T, Dweikat I, Awar M, Shahrour M, Libdeh BA, Sultan M - BMC Pediatr (2014)

Initial Presentation: significant photosensitivity with severe scaly desquamating skin rash and hyperpigmentation involving the face, neck, lower and upper extremities.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4308912&req=5

Fig1: Initial Presentation: significant photosensitivity with severe scaly desquamating skin rash and hyperpigmentation involving the face, neck, lower and upper extremities.
Mentions: A 3-year-old Palestinian girl was referred with primary complains of persistent chronic diarrhea and hypoalbumenemia since one year of age. Additional symptoms included significant photosensitivity and severe scaly skin rash involving face, neck, lower and upper extremities (Figure 1).Figure 1

Bottom Line: Celiac disease (CD) is a complex autoimmune disorder that can lead to an inflammatory small intestinal villous atrophy and malabsorption.She was diagnosed with celiac disease, which did not improve on gluten free diet.Niacin was started and followed by dramatic improvement.

View Article: PubMed Central - PubMed

Affiliation: New York Presbyterian, Weill Cornell Medical College, New York, USA. ciecierega@gmail.com.

ABSTRACT

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 with chronic diarrhea, Hypoalbuminemia and exfoliative erythema. She was diagnosed with celiac disease, which did not improve on gluten free diet. Hartnup disease was suspected and was confirmed by neutral aminoaciduria. Niacin was started and followed by dramatic improvement.

Conclusion: Presence of Celiac and Hartnup disease in single individual is very rare. Complete nutritional assessment of refractory celiac patient can reveal underlying nutritional deficiency.

Show MeSH
Related in: MedlinePlus