Background: Shwachman syndrome has been recognized as the second most frequent cause of pancreatic insufficiency in children and its is related to hematological and bony abnormalities.
Aims: To know the main clinical symptoms, analytical data, radiological and sonographic findings in the Shwachman syndrome.
Materials and methods: We present a 1 year 4 months old girl with Shwachman syndrome. We reviewed the clinical history taking into consideration height/weight relationship according to percentiles and physical examination. Analytical data: blood counts, fetal hemoglobin, vitamin B12 and folate levels, bone marrow examination, stool cultures and examination for ova and parasites, transaminase levels, sweat electrolytes, serologic tests for viral hepatitis. Radiological studies: bone series and bone age, abdominal sonography and computed tomography. Liver and intestinal biopsies.
Results: In this patient we confirmed the presence of exocrine pancreatic insufficiency, dysfunction of the bone marrow and bony abnormalities typical in Shwachman syndrome.