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A Case of Unusual Combination of Dandy Walker Syndrome with Congenital Lobar Emphysema 01/09/2014 00:00:00

A Case of Unusual Combination of Dandy Walker Syndrome with Congenital Lobar Emphysema

Sharmila R Rathi , Chetan G, P Narayanan, S Srinivasan.
Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.

Rathi Sharmila.R, Dept. of Pediatrics, JIPMER, PONDICHERRY 605 006.
A 12 months old male child presented to our outpatient department for evaluation of persistent respiratory symptoms. Mother also gave history of developmental delay and progressive enlargement of head. He was the first child of consanguineous parentage and had an uneventful neonatal period. Mother noticed delay in development of milestones since two months of age with occasional vomiting after feeds. Child was also treated repeatedly for respiratory infections with multiple antibiotics and bronchodilators since 3 months of age. She denied any family history of developmental delay or congenital malformations. On examination he had motor and cognitive developmental delay, increased muscle tone and exaggerated reflexes. Child's head circumference was increased for age. He had tachypnea. There were no other obvious external malformations. Cranial ultrasonogram revealed enlargement of lateral and third ventricles with posterior fossa cyst.(Figure1) Chest radiograph showed congenital lobar emphysema of left lung.(Figure2) Child was advised neurosurgical intervention along with surgical removal of the affected lobe of left lung.

Figure 1: Ultrasound cranium showing dilated ventricles.
Figure 1: Ultrasound cranium showing dilated ventricles.

Figure 2: Chest radiograph showing left sided congenital lobar emphysema.
Figure 2: Chest radiograph showing left sided congenital lobar emphysema.

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.
Compliance with Ethical Standards
Funding None
Conflict of Interest None
  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.  [CrossRef]
  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.  [CrossRef]
  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.  [CrossRef]
  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.  [CrossRef]
  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.  [CrossRef]
  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.  [CrossRef]

Cite this article as:
Rathi S R, G C, Narayanan P, Srinivasan S. A Case of Unusual Combination Of Dandy Walker Syndrome With Congenital Lobar Emphysema. Pediatr Oncall J. 2008;5: 122.
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