Title : Recurrent diarrhea with failure to thrive
 
Clinical Problem : A 15 month old boy born of non consanguineous marriage presented with recurrent diarrhea and failure to thrive since 1 month of age. The stools are semi-loose with mucus 8-10 times, day with 2 episodes per month. He was hospitalized for similar complaints at 6 and 7 months of age. He was a full term normal delivery with a birth weight of 1.9 kg. An elder sib had died 7 months of age due to recurrent diarrhea. He had delayed gross motor milestones and is only able to sit with support. The child was on exclusive breast feeds till 8 months of age following which weaning food was started. On examination, he was malnourished with weight of 4.75 kg { Less than 5th centile} and height of 62 cm { Less than 5th centile}. He had pallor with hyperpigmented hair and hepatomegaly. Other systemic examination was normal. Investigations showed leucocytosis with anemia {Hemoglobin = 9.3 gm, dl, WBC = 19,600, cumm with 38 percent polymorphs, 61 percent lymphocytes and 1 percent monocyte and ESR of 10 mm at end of 1 hour} Venous blood gas, serum electrolytes, renal function tests were normal. Total proteins were 5.0 gm percent with serum albumin of 2.8 mg percent. Stool examination was normal. Stool for cryptosporidium was negative. Stool pH was 6.0 with reducing substance negative. HIV ELISA was negative, serum immunoglobulins were normal {IgA = 163 mg, dl, IgG = 1123 mg, dl, IgM = 62 mg, dl}. He was treated with IV antibiotics and chicken broth.
 
Question : How should one investigate this child_?
 
Expert Opinion : This child has chronic diarrhea. A differential diagnosis of infections {amoebiasis, giardiasis}, Celiac disease, cystic fibrosis, congenital immunodeficiencies, liver disease and protein losing enteropathy should be considered in this child. Thus the child should be investigated with anti gliadin antibodies, intestinal biopsy, sweat chlorides, liver function tests, lymphocyte subset analysis and albumin scan should be considered. Since diarrhea started at one month of age, celiac disease seems unlikely and since albumin: globulin ratio is maintained, protein losing enteropathy may be unlikely. The low albumin may be due to malabsorption.
Since an elder child has died due to the same problems, one must rule out a genetic problem such as cystic fibrosis and immunodeficiency. The serum immunoglobulins are normal and the child has an onset at one month of age, hence a problem in T cell immunity should be ruled out. Since the absolute lymphocyte count is normal, T cell defects also seem less likely. In this child, lymphocyte subsets were normal, liver function tests were normal. Sweat chlorides were More than 60 suggestive of a diagnosis of cystic fibrosis.
 
Funding : None
 
Conflict of Interest : None
 
DOI No. : 10.7199/ped.oncall.2013.61
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