Case of the Week: May 3-May 10, 2012

6 year old short stature

(Click for a larger image.)



Case Details

Not cystic fibrosis. Think Queen Elizabeth diamond anniversary.

Fatty replacement of the pancreas

Answer

Diagnosis: Shwachman-Diamond Syndrome

Shwachman-Diamond Syndrome(SDS) is a rare congenital disorder characterized by pancreatic insufficiency,bone marrow dysfunction, and short stature.

SDS is the second most common cause of inherited pancreatic insufficiency, after cystic fibrosis(CF).

Approximately 3% of childhood pancreatic insufficiency is attributed to SDS, which occurs in 1 in 10,00-200,000 births.

SDS has been reported among all racial and ethnic groups with male-to female ratio of 1.7:1.

In individuals with this condition, pancreatic acinar cells do not develop in utero and are replaced by fatty tissue with preserved islet cells.

Patients with SDS have defective neutrophil chemotaxis, which as been linked to chromosome 7q abnormality.

Faiure to thrive has been attributed to nutritional deficits-malabsorption and steatorrhoea.

Skeletal anomalies include delayed bone age,thoracic dysotosis,metaphyseal widening and cupping, tabulation of long bones, clinodactyly,syndactyly, supernumerary metatarsals,valgus deformity at knees and elbows,dental abnormalities,osteomyelitis,otitis media,myelodysplasia,leukemic transformation.

Other causes of fatty replacement are:

Cystic fibrosis

Steroid therapy

Cushing syndrome

Johansson-Blizzard syndrome

Obesity

Diabetes mellitus

Post pancreatitis

Correct answers by users

VCU Resident
Radiology Pediatrics
  • Susan Back
  • Mamta Gupta
  • Bradford Moore
  • Mark Notley
  • Brad Pollard
    Others
  • Watfa Al DhaheriCanada
  • Vijay AroraIndia
  • Bakhtiar BakhshiTurkey
  • Salim ElzawamLibya
  • Ramazan JafariIran
  • John KirkhamUnited States of America
  • Naganathan ManiUnited States of America
  • Amr NazihKuwait
  • Wael NemattallaEgypt
  • Sachinkumar ShelkeIndia
  • Trevor WatkinsAustralia
  • Lincoln WongUnited States of America
    VCU Department of Pediatric Radiology Virginia Commonwealth University VCU Medical Center