ISSN - 0973-0958

Pediatric Oncall Journal



Dr Ira Shah.
Medical Services Department, Pediatric Oncall, Mumbai.

Dr Ira Shah, Medical Sciences Department, Pediatric Oncall, 1, B Saguna, 271, B St. Francis Road, Vile Parle {W}, Mumbai 400056.
Clinical Problem
Case Report:- A 10 month old boy born of non consanguineous marriage presented with diarrhea and fever since 20 days. Initially, there were 30-40 episodes/day of watery stools which had now decreased to 10-15 episodes/day. He had been hospitalized for the same in a nursing home and was treated with IV fluids and antibiotics. He had been on mixed feeds with breast milk and rice moong dal paste (RMP) in water. Birth history and immunization history was normal. On examination, the child was not dehydrated and vital parameters were normal. He had perianal excoriation and 6 café au lait spots (largest being 25 x 20 mm on left thigh). On systemic examination, he had hepatomegaly. Other examination findings were normal. Investigations:
 CBC = Normal
 Stool = 7.5 pH with fat globules. No reducing substances
 Renal function tests & electrolytes = Normal  Rotavirus ELISA = Negative  Stool culture = E. coli  Blood Bactec Resin = No growth  HIV = Negative  Stool for 3 consecutive days = No cysts, giardia

What is the diagnosis ?
Expert’s opinion :- Dr. Ira Shah:

Cryptosporidia with primary immunodeficiency

This child has presented with an unremitting diarrhea since 20 days though the frequency has decreased. Since it is watery, large quantity stools it is suggestive of small bowel diarrhea. Of the small bowel diarrheas, viral infections are the commonest causes but they are usually self limiting and do not last for 20 days. The commonest viral infection at this age is Rotavirus which is negative in this child. Other infective causes of small bowel diarrhea are bacterial infection especially E.coli and Salmonella. This child’s stool culture did grow E.coli but the child has not responded to any antibiotics and also the child has never developed dysentery. Thus E. coli also seems an unlikely cause. Another possibility is lactose intolerance secondary to post infectious state especially since the child has perianal excoriation. However, the stool is not acidic and reducing substances are also negative and thus lactose intolerance may be less likely. The perianal excoriation could be due to frequent passage of stools itself leading to chemical dermatitis. Other possibilities are zinc deficiency and other infective causes of small bowel diarrhea such as giardiasis and cryptosporidia. Giardia usually causes loose, green stools with flatulence. In this case a stool examination for cryptosporidia requires a modified acid fast stain. In this child, stool did show multiple oocysts of cryptosporidia.
Now the question arises is that how did the child get cryptosporidia. Cryptosporidia is found in the intestinal and respiratory epithelium of mammals, birds and reptiles. It is transmitted by human to human feco-oral route and is common pathogen in traveler’s diarrhea and in day care centres. In immunocompetent children, it leads to acute watery diarrhea where as in immunocompromised children it leads to severe resistant diarrhea. The oocysts are not destroyed by boiling. Thus boiling alone is not enough and filtering of water is required as oocysts are big in size and get caught in the filter. Nitazoxanide has been found to control infection in immunocompetent patients but may show no response in immunocompromised patients.
This child was treated with Nitazoxanide but had no response. In view of multiple café au lait spots a neurocutaneous marker, and underlying immunodeficiency was considered. Café au lait spots are seen in Neurofibromatosis, Tuberous Sclerosis and Ataxia Telangiectasia. Of these ataxia telangiectasia is associated with both cellular and humoral immunity abnormality with low IgA, IgE and IgG. These patients have recurrent infections and other signs of the disease such as telangiectasia and ataxia appear later. In this child, S. IgG was 74.6 mg/dl (Normal = 350-1180 mg/dl), IgA and IgM were normal. He was treated with intravenous immunoglobulin following which diarrhea responded. This child needs a close follow up to see if he develops signs of ataxia and telangiectasia. He did have elevated alpha fetoprotein.
Compliance with ethical standards
Funding:  None  
Conflict of Interest:  None
Cite this article as:
Shah I. Chronic Diarrhea With Cafe Au Lait Spots. Pediatr Oncall J. 2008;5: 121.
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License
Disclaimer: The information given by is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0