[PAGID] Autoinmmune enteropathy?

[Nacho Gonzalez]

7 year old female (RM)  with severe chronic diarrea with neonatal onset.
Cuacasian. She has persistent malabsortion. She required parenteral
nutrition when she was eighteen month old (for severe malnutrition).
Intestinal biopsy (2002): moderate partial vellous atrophy.



Her sister (AM) suffers from refractory celiac disease (CD) with persistent
antigliadin and antitransglutaminase positive despite strictly gluten free
diet.



The patient (RM) presents negative celiac serology. HLA is not compatible
with celiac disease.  Intraepitelial lymphocytes are not compatible with CD
(in 2002 and now). Antienterocyte antibodies are also negative (in 2002 and
now).  CD25+ and FOXP3+ are in normal  range (this month). She has
persistent IgE elevation (around 1000 IU/mL). Anti TPO levels were slightly
elevated once (Dec´08) but now are in normal range. Anti PCA (parietal cell
antibodies are slightly positive: 1/80 ) ANA + 1/40 (normal) .  We have
ruled out food allergies.  IgG,A,M normal. Lymphocyte subpopulations:
normal.

She is now admitted for severe diarrhea and malnutrition.



We are not sure about starting steroid therapy. We'd really appreciate
helpful suggestions about diagnosis and treatment.
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