Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins

Abstract

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder of marrow failure syndrome and exocrine pancreatic dysfunction with an estimated incidence of 1/76,000. When present, characteristic skeletal abnormalities are strongly suggestive of SDS but most often they are seen during childhood and adolescence. We present a case of preterm twins with prenatal diagnosis of thoracic hypoplasia and a clinical evolution that lead to an early diagnosis of SDS. This report highlights the importance of a high index of suspicion for SDS in case of neonatal thoracic hypoplasia.

Keywords

thoracic hypoplasia - newborn - neutropenia - exocrine pancreatic dysfunction - limb shortness

• References

• 1 Goobie S, Popovic M, Morrison J , et al. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet 2001; 68 (4) 1048-1054
• 2 Dror Y, Donadieu J, Koglmeier J , et al. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci 2011; 1242: 40-55
• 3 Dror Y, Freedman MH. Shwachman-diamond syndrome. Br J Haematol 2002; 118 (3) 701-713
• 4 Keogh SJ, McKee S, Smithson SF, Grier D, Steward CG. Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome). BMC Pediatr 2012; 12: 48
• 5 Kozlowski K, Morris L. Shwachman's syndrome: unusual presentation as congenital rickets and asphyxiating thoracic dystrophy. Rofo 1991; 154 (3) 344-346
• 6 Karjoo M, Koop CE, Cornfeld D, Holtzapple PG. Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy. Arch Dis Child 1973; 48 (2) 143-146
• 7 Danks DM, Haslam R, Mayne V, Kaufmann HJ, Holtzapple PG. Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period. Arch Dis Child 1976; 51 (9) 697-702
• 8 Michels VV, Donovan GK. Shwachman syndrome: unusual presentation as asphyxiating thoracic dystrophy. Birth Defects Orig Artic Ser 1982; 18 (3B): 129-134
• 9 Pringle EM, Young WF, Haworth EM. Syndrome of pancreatic insufficiency, blood dyscrasia and metaphyseal dysplasia. Proc R Soc Med 1968; 61 (8) 776-778
• 10 Menne TF, Goyenechea B, Sánchez-Puig N , et al. The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat Genet 2007; 39 (4) 486-495
• 11 Finch AJ, Hilcenko C, Basse N , et al. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev 2011; 25 (9) 917-929
• 12 Ganapathi KA, Austin KM, Lee CS , et al. The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood 2007; 110 (5) 1458-1465
• 13 Georgiou-Theodoropoulos M, Agapitos M, Theodoropoulos P, Koutselinis A. Jeune syndrome associated with pancreatic fibrosis. Pediatr Pathol 1988; 8 (5) 541-544
• 14 Myers KC, Bolyard AA, Otto B , et al. Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. J Pediatr 2014; 164 (4) 866-870