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.

Bone marrow aspiration revealed low grade myelodysplasia. Stool pancreatic elastase I was less than 15mcg/g suggestive of severe pancreatic insufficiency. The karyotype was normal and when the sweat chloride too came normal [10 meq/L], we were at a dead end until a CT of the abdomen showed a classical appearance of extensive fatty infiltration of the entire pancreas diagnostic of Shwachmann Diamond Syndrome. He was put on pancreatic enzyme replacement [Creon] with every meal along with lansoprazole. His height and weight percentiles now approach 25, he been able to maintain a hemoglobin of 11 without transfusions and his stool output has considerably reduced.

Schwachmann Diamond Syndrome is an autosomal recessive syndrome characterized by exocrine pancreatic insufficiency, neutropenia which may be cyclical, metaphyseal dysostosis [the most variable feature] and failure to thrive with short stature.

These children typically present in infancy with poor growth and greasy foul smelling stools as did our child. The pancreatic insufficiency may be transient and steatorrhea may spontaneously improve with age. Our child may have either responded to enzyme replacement or may be following the natural course of spontaneous improvement with time. Recurrent pyogenic infections are common [otitis media, pneumonia, osteomylitis, dermatitis, sepsis] and a frequent cause of death. Such infections could be related to the cyclical neutropenia or to the neutrophil hemotactic defects that some of these children possess. Thrombocytopenia occurs in 70%; anemia occurs in 50% while neutropenia occurs in virtually all patients. Severe anemia needing repeated transfusions, as experienced by our patient, is unusual. Development of a myelodysplastic syndrome or transformation to acute myeloid leukemia has been reported in upto 33% and 24% patients respectively, especially associated with monosomy 7 [1]. While our child’s bone marrow did reveal mild MDS, subsequent follow up did not demonstrate any deterioration. Shwachmann Diamond Syndrome is the second commonest cause of exocrine pancreatic insufficiency after cystic fibrosis from which it is readily differentiated by normal sweat chloride levels, lack of cystic fibrosis gene, metaphyseal lesions and the characteristic hypodense appearance on CT or MRI. Though a large number of invasive and non-invasive tests are available for pancreatic insufficiency [2], fecal elastase is a standard screening test with a sensitivity and specificity [3] of over 90%. A detailed study of the SBDS gene is planned for this family since they have requested for genetic counseling prior to the subsequent pregnancy. Only occasional case reports appear from India, some of which highlight the importance of the study of the SBDS gene located on chromosome 7q11 and its pseudogene [SBDSP] located in the vicinity of the SBDS gene [4]. Such a molecular diagnosis is critical before therapy such as stem cell transplant is attempted as also for genetic counseling for subsequent pregnancies.

Acknowledgment: D Jain, Senior Resident in Pediatrics at Bombay Hospital for her help in working up the case.

1. Rothbaum R, Perrault J, Vlachos A. Shwachmann Diamond Syndrome: report from an international conference. J Pediatr. 2002;141:266-70.

2. Walkowick J, Nousia Arvanitakis S, Henker J. Indirect pancreatic function tests in children. J Pediatr Gastroenterol Nutr. 2005;40:107-14.