A rare congenital defect characterized by pancreatic
insufficiency with neutropenia (60% of cases) and growth retardation.
Other features may include recurrent and fatal infections, aplastic anemia,
leukemia, skeletal abnormalities (metaphyseal dysostosis, thoracic
dystrophy), hepatic failure, and ichthyotic skin changes.
Approximately 1:50,000 live births.
Autosomal recessive but may occur
A multiorgan condition whose underlying cause is
uncertain. Reduction in pancreatic exocrine function that is partly a result
of fatty infiltration of the pancreas; evidenced by low or absent amylase,
lipase and trypsin activity resulting in malabsorption, and the need for
enzyme supplementation. Skin sweat test is normal. Bone marrow has varying
degrees of hypoplasia resulting in intermittent neutropenia and
thrombocytopenia. Neutrophil chemotaxis is impaired.
Based on clinical scenario in addition to evidence of
pancreatic exocrine insufficiency, intermittent or persistent neutropenia
and thrombocytopenia, and abnormal neutrophil chemotaxis. Hypoplastic bone
marrow may be present.
Initially, neonates may present with failure to
thrive, diarrhea, feeding difficulties, and hypotonia. Growth retardation
persists into adulthood. Although pancreatic exocrine function is abnormal,
endocrine function is normal. Motor and speech development are invariably
delayed and intelligence quotient low. Skeletal abnormalities are common and
include metaphyseal dysplasia in long bones, knees, wrists, ankles, and
vertebrae. Clinodactyly or duplication of the thumb has been described. Ribs
are frequently short, resulting in a narrow thoracic cavity. This frequently
improves with age. Chest wall compliance is reduced and lung compliance
normal. Forced expiratory volume at 1 second (FEV1) and forced vital
capacity (FVC) are usually reduced. Renal tubular dysfunction may be
present. Myocardial fibrosis and cardiomegaly have been described and may
make patients extremely sensitive to chemotherapy-induced cardiotoxicity.
Leukemic transformation has been described in 5 to 33% of patients.
Hematologic: evaluate for evidence of
pancytopenia and correct abnormalities preoperatively. Pulmonary function
testing particularly in patients with chest wall abnormalities. Cardiac function:
particularly echocardiogram following chemotherapy.
Patient cooperation may be limited as a
consequence of developmental delay. Pulmonary function usually is not
severely impaired. Consider side effects of steroids and chemotherapeutic
agents used in treatment of malignant transformation and bone marrow
Cardiac-depressant drugs should be
used with care. Corticosteroid coverage following steroid use.
Aggett PJ, Cavanagh NPC, Matthew DJ, et al: Shwachman's syndrome: A
review of 21 cases. Arch Dis Child
Dror Y, Ginzberg H, Dalal I, et al: Immune function in patients with
Shwachman-Diamond syndrome. Br J Haematol
Okcu F, Roberts W, Chan K: Bone marrow transplantation in Shwachman-Diamond
syndrome: Report of two cases and review of the literature. Bone Marrow Transplant
Tamhane P, Newton NI, White S: Anaesthetic management of quinsy in a patient with
Shwachman-Diamond syndrome. Anaesthesia 59:198, 2004.