SHWACHMAN-DIAMOND SYNDROME
 
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SHWACHMAN-DIAMOND SYNDROME

 

DEFINITION:

A rare disorder characterized by exocrine pancreatic insufficiency, metaphyseal dysostosis, and a congenital form of neutropenia (+/- pancytopenia).

EPIDEMIOLOGY:

  • incidence: rare (over 200 cases worldwide)
  • age of onset:
    • infancy
  • risk factors:
    • familial - autosomal recessive
      • chrom.#: ?
      • gene: ?
    • M > F (1.8:1)

PATHOGENESIS:

1. Background

  • etiology unknown but it is considered to be one of at least 4 disorders characterized by congenital pancytopenia
    • other congenital pancytopenias:
      • Dubowitz Syndrome
      • Dyskeratosis Congenita Syndrome
      • Fanconi Anemia
  • considered a rare form of osteochondrodysplasia
  • prognosis: mean survival of >35 years but drops to 14 years in those with aplastic anemia

2. Genetic Defect

  • genetic defect -> reduced number of hematopoietic progenitor cells

CLINICAL FEATURES:

1. Pancreatic Insufficiency

  • first manifestation and apparent early in infancy (mean between 7-9 months of age)
  • malabsorption - steatorrhea, diarrhea, protruberant abdomen, failure to thrive

2. Pancytopenia

1. Neutropenia(>95% of cases)

  • usually detected in infancy or early childhood
  • chronic, intermittent, cyclic
  • skin and mucous membrane infections
  • pneumonia (chronic cough)

2. Anemia (>20% of cases)

  • pallor, lethargy

3. Thrombocytopenia (>10% of cases)

  • bleeding, bruising

3. Other Manifestations

1. Musculoskeletal

  • SHWACHMAN-DIAMOND SYNDROME, short neck, coxa vara, syndactyly

2. Ocular

  • ptosis, strabismus

3. Cutaneous

  • ichthyotic skin rash, skin pigmentation

4. Oral

  • cleft palate, dental dysplasia

5. Neoplasms

  • lymphoreticular tumors (5% of cases)
    • leukemia - AML, ALL

INVESTIGATIONS:

1. Serum

  • neutropenia - WBC < 3
  • Hb: macrocytic anemia, mean = 8

 

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