An 11 month old with recurrent respiratory infections and failure to thrive with bulky stools
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An 11 month old with recurrent respiratory infections and failure to thrive with bulky stools
02/01/2014
02/01/2014
Kumud P Mehta
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Kumud P Mehta.
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Clinical Problem
An 11 month old female child born on non-consanguineous marriage was admitted with a history of failure to thrive since birth more so since 2-3 months and vomiting since 1 month. Since one month the child was passing bulky, foul smelling, and oily stools. She had recurrent respiratory infections since the age of 7 months.
Birth history: She was a Full term normal delivery with a birth weight of 3.2 kg and no antenatal complications.
Feeding history – She was breast fed exclusively for the first 3 months; however there was very poor weight gain. Top feeds with addition of Simyl MCT oil and weaning food were started but there was slow weight gain
Past history – No history of meconium ileus in neonatal period
Family history – No history of contact with TB. There was a history of a cousin with similar illness who expired at the age of 7 years due to recurrent respiratory infections, diarrhea and malnutrition.
Developmental history – normal
Immunization history – Fully immunized for age.
On physical examination:
Weight = 5.30 kg (expected 9.5 kg)
Height = 65 cm (expected 70-75 cm)
Pallor +,
Mild respiratory distress +,
Temp – Normal,
Dehydration 2+,
Rickets + (frontoparietal bossing, rachitic rosary, widening of wrists).
Hepatomegaly 2 cm +, soft, non tender
Respiratory system – bilateral wheeze, coarse crepitations bilaterally.
Other systems – normal
Investigations
Initial on admission:
S.sodium = 118 meq/L, S.potassium = 1.9 meq/L, S. chloride = 55 meq/L
ABG showed metabolic alkalosis (pH 7.547) with respiratory acidosis (PCO2 – 54 meq/L).
She was treated with Intravenous Fluids with potassium and sodium correction over 24-48 hrs. Child’s condition improved rapidly and she starting taking feeds orally.
Urine culture: Significant growth of E.Coli,
Stool: excess of fat globules
X-ray chest – Normal,
Hb – 10.3-15 gm%
WBC – 12,700-23,400/cm. (polymorphs = 62-70%)
HRCT chest – Normal,
Mantoux test - Negative
Sweat chloride test - equivocal 34 meq/L (N: 0-30 meq/L)
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What is the differential diagnosis? How to proceed further?
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Discussion
In view of failure to thrive, fat malabsorption, chronic cough along with positive family history a diagnosis of cystic fibrosis was entertained. However, presence of significant vomiting, and dyselectrolytemia seen in initial investigations prompted evaluation of renal tubular function tests. Recurrent respiratory infections with diarrhea suggested a possibility of immune deficiency.
A further Genetic study for cystic fibrosis is required. There was a delta F508 genetic defect suggestive of cystic fibrosis. Both parents were screened and found to be heterozygote for cystic fibrosis. Mother of the cousin who died of similar illness also was heterozygote for cystic fibrosis. Treatment given was Pancreatic enzyme supplements and mobilization with bronchodilators, steam, oral mucolytic agents. Parents were counseled for future conception and advised about prenatal diagnosis of CF. During the yearly follow up, the diarrheas has improved and growth has improved to 50th centile with minor respiratory infections.
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Funding: None
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Conflict of Interest: None
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Cite this article as:
Mehta K P. An 11 month old with recurrent respiratory infections and failure to thrive with bulky stools. Pediatr Oncall J. 2004;1.
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