Congenital lobar emphysema (CLE) represents overexpansion of a pulmonary lobe with resultant compression of the remaining ipsilateral lung which usually presents in the newborn period as respiratory distress but may remain asymptomatic and present later in life. Dandy-Walker Syndrome (DWS) is a congenital malformation of brain consisting of agenesis of the midline vermis of the cerebellum due to developmental failure of roof of fourth ventricle to perforate to form the foramina of luschka and magendie during embryogenesis. The result is cystic dilatation of fourth ventricle with a large posterior fossa. Many associations have been reported with Dandy walker syndrome in literature. Ritscher et al. reported the cases of two sisters with Dandy Walker malformation and atrioventricular septal defect together with craniofacial anomalies (1). Other associations which have been reported are Ellis-van Creveld syndrome (2), polyhydramnios, cerebellar vermis agenesis, postaxial polydactyly (3,4) and discrete dilatation of the right kidney pelvis (4). Chitayat et al. reported two brothers with an apparently new constellation or manifestations, including DWS, migrational brain disorder, macrocephaly, and facial abnormalities (5). Polycystic kidneys, Congenital heart defect, Immunodeficiency and craniofacial abnormalities have also been reported (6).

In our case, CLE was diagnosed incidentally during routine evaluation for the respiratory symptoms. So far no association of Dandy walker syndrome with congenital lobar emphysema has been described. Hence in a case with DWS with respiratory symptoms, CLE should also be considered in the differential diagnosis after ruling out common problems like recurrent aspiration and immunodeficiency.

1. Ritscher D, Schinzel A, Boltshauser E, Briner J, Arbenz U, Sigg P. Dandy-Walker (like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome- Am J Med Genet. 1987; 26: 481-491.
2. Christian J. C, Dexter R. N, Palmer C G, Muller J. A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment. Am J Med Genet. 1980; 6: 301-308.
3. Cavalcanti D. P, Salomao M. A. Dandy-Walker malformation with postaxial polydactyly : further evidence for autosomal recessive inheritance. Am J Med Genet. 1999; 85: 183-184.
4. Pierquin G, Deroover J, Levi S, Masson T, Hayez-Delatte F, Van Regemorter N.Dandy-Walker malformation with postaxial polydactyly: a new syndrome- Am J Med Genet. 1989; 33: 483-484.
5. Chitayat D, Moore L, Del Bigio M. R, MacGregor D, Ben-Zeev B Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome- Am J Med Genet. 1994; 52: 406-415.
6. Lauener R, Seger R, Jorg W, Halle F, Aeppli R, Schinzel A. Immunodeficiency associated with Dandy-Walker-like malformation, congenital heart defect, and craniofacial abnormalities. (Letter) Am J Med Genet. 1989; 33: 280-281.

Last Updated: 1st September 2008 Vol 5 Issue 9 Art # 38

Advance Access: 1st November 2007

Sharmila RR, Chetan G, Narayanan P, Srinivasan S. A Case of Unusual Combination of Dandy Walker Syndrome with Congenital Lobar Emphysema. Pediatric Oncall [serial online] 2008 [cited 2008 September 1];5. Art # 38. Available from: