Chronic pancreatic insufficiency-think of Shwachmann Diamond Syndrome.

Exocrine pancreatic insufficiency which is not due to cystic fibrosis is a diagnostic dilemma until attention is paid to the other systemic findings. We present such a child where focusing on other systems helped us reach a diagnosis. A one year one month old male child was brought to us with onset of complaints since the first few months of life. Parents complained of failure to thrive since birth, repeated anemia needing transfusions to maintain his hemoglobin, extensive seborrheic dermatitis of the scalp, radiologically confirmed pneumonia at four months needing hospitalization and intravenous antibiotics, BCG lymphadenitis at four months needing two drug AKT isoniazid and rifampin, acute otitis media at 6 months, and frequent oily stools since birth. Examination revealed a child with a weight of 6 kg, height of 68 cm and a head circumference of 43.5 cm. Systemic examination revealed seborrheic dermatitis on the scalp and florid rickets. Investigations showed anemia, thrombocytopenia, and intermittent neutropenia. The immunoglobulin pattern and T cell and B cell distribution on flow cytometry was normal.