Shwachman diamond syndrome

NEET PG Pathology
#1

#SHWACHMAN-DIAMOND SYNDROME (SDS):-

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● Autosomal recessive
● a/w chromosome 7 mutation
● C/F:-

  1. Anemia, thrombocytopenia and neutrophil motility defects
  2. Developmental and mental retardation, diarrhea, weight loss, failure to thrive, eczema, recurrent otitis media and pneumonia
    ● RISK:-
  3. Bone marrow failure
  4. leukemic transformation
    ● Treatment of choice is Bone Marrow Transplantation.