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2008, Number 86

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Rev Enfer Infec Pediatr 2008; 21.22 (86)

Shwachman-Diamond syndrome. Report of two cases

Figueroa SR, Hernández GRL, Zárate MF, Cervantes BR, Mata RN, Montijo BE, Bacarreza ND, Ramírez MJ

Language: Spanish
References: 16
Page: 60-65
PDF size: 269.77 Kb.


ABSTRACT

Introduction: The Shwachman-Diamond syndrome is a pathological entity characterized by exocrine pancreatic insufficiency, dysfunction of the bone marrow and metaphyseal chondrodysplasia. It is the second leading cause of exocrine pancreatic insufficiency of children, their exact frequency is unknown and apparently is inherited in an autosomal recessive trait.
Objective: To present two cases of Shwachman-Diamond syndrome.
Materials and methods: We reviewed the clinical records of two patients, one female and one male, with ages of five and 16 months at the time of diagnosis, which began their illness during the first month of life with evacuations of diminished consistency in terms of number of four to six in 24 hours, steatorrhea, detention of the curve of weight and height, and hematological disorders (anemia, neutropenia and thrombocytopenia), with hypocellular bone marrow, skeletal abnormalities (metaphyseal chondrodysplasia) and normal electrolytes in sweat. A diagnosis of Shwachman-Diamond syndrome was made, starting the management with pancreatic enzymes. The outcome was very satisfactory in both cases.
Conclusions: In all patients with exocrine pancreatic insufficiency associated with hematological disorders, bone and bone marrow hypocellularity, the Shwachman-Diamond syndrome must be considered, but since it starts with watery stools, can be thought initially it is an infectious process, although it will be ruled out with the complete clinical presentation. Cystic fibrosis must be ruled out, since it is the first cause of congenital exocrine pancreatic insufficiency.


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