cases

Case-1

  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 . Chest radiograph showed (Figure2). Child was advised neurosurgical intervention along with  chest surgical  intervention.

Figure : 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). (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.

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.