Shwachman syndrome

Infants often become ill with symptoms by the age of four or six months old. Early problems include failure to thrive, loose, foul-smelling, greasy stools, feeding problems and recurrent infections. The bone marrow in which blood cells are produced is also affected. White blood cells may be low in number and/or not function properly. Anemia and problems with blood clotting may be present. Growth soon slows and remains below normal; only a few children show growth beyond the third percentile. Infections are present early in at least 85% of children. These occasionally lead to death. Diagnosis is generally made in the first few years of life, although occasionally diagnosis is delayed. A typical hyposignal in T2 is showed on magnetic resonance imaging (MRI). Other clinical signs include bone defects with metaphyseal dysostosis, pectus carinatum, cutaneous deffects like ichthyosis, and psychomotor retardation. Hematological disturbances like neutropenia with lowered chemotaxis, thrombopenia and anaemia worsens and evolves toward aplasia.

Therapeutic options

  • Pancreatic enzyme supplementation, as long as neutropenia is moderate and asymptomatic. Prevention or treatment of invasive infections. Correction of hematologic abnormalities, the hematopoietic growth factor is sometimes beneficial. Prevention of orthopedic deformities. In cases when the disease evolves towards medular aplasia or malignant transformation, bone marrow transplant is requiered.
  • Shwachman-Diamond Syndrome, eMedicine