MEDICAL INSIDER
DR. RIA MASLOG
FOR AUG 20, 2023
Shwachmann’s Syndrome
What is the Shwachmann’s Syndrome all about? This is a
rare multi-organ disease due to:
- Exocrine pancreatic insufficiency and
- Bone marrow dysfunction
The cause of this syndrome is unknown; but it is
speculated to be an inherited disease with the basic defect
lying in the secretory function of the endoplasmic reticulum
of the cell.
Clinically, the syndrome may manifest in the following:
- loose, greasy , malodorous stools during infancy
- vague abdominal discomfort
- growth retardation
- frequent bacterial infections
- mild anemia that is nonresponsive to hematinics or
vitamin B 12 supplementation - coxa vara deformity
- kyphoscoliosis
- narrow thoracic cage due to short ribs and
- hepatomegaly
Affected children are given pancreatic supplementations
and their diet should be with the use of medium chain
triglycerides.
The frequent bacterial infections are given appropriate
antimicrobials.