Images in Clinical Practice

Klippel Feil Syndrome

A full term female child delivered by assisted breech delivery presented with short neck. Apgar score was 3 and 5 at one and five minutes, respectively. On examination the head was fused with back, neck was absent and posterior hair line was low. She was also having bilateral parietal cephalhematoma, discolored nose and compressed ears (Fig. 1). There was no obvious organomegaly. Umbilical cord had 2 arteries and 1 vein. In limbs there was bilateral congenital talipes equino varus with quadriparesis of upper motor neurone type. Anal opening was patulous. Roentgenogram showed fusion of cervicothoracic vertebrae (Fig. 2). The child was diagnosed as Klippel Feil syndrome with severe birth asphyxia and was treated symptomatically but expired after 10 hours of birth.

Fig. 1. Photograph of baby showing head fused with back, absent neck and low posterior hair line.

Fig. 2. Roentgenogram showing fusion of cervicothoracic vertebrae.

Klippel Feil syndrome is characterized by synostosis (fusion of cervical vertebrae), brevicollis (short/absent neck) and low posterior hairline with many other associated malformations. This child had all cardinal features with bilateral congenital talipes equino varus and quadriparesis. The condition should be differentiated from Sprengel deformity and Iniencephaly. Roentgenogram is a good tool for this purpose. In Sprengel deformity there is asymmetry of shoulder with high-up scapula while in Iniencephaly there is absence of occiput at the base of skull. Klippel Feil syndrome is a rare congenital malformation occuring predominantly in females. The inheritance pattern is usually sporadic but sometimes autosomal dominant. The exact cause is still not known.

R.L. Suman,
Minal Savani,
Department of Pediatrics,
R.N.T. Medical College,
Udaipur, Rajasthan, India.

Dandy Walker Malformation

A 10-year-old male child presented with seizures, enlarging head and mild mental retardation. There was history of excision of occipital encephalocele and insertion of a ventriculo-peritoneal shunt at birth. The axial CT (Fig. 1) revealed a large posterior fossa cyst of CSF density, communicating with the fourth ventricle and associated cranial defect (due to encephalocele excised at birth) in the occipital bone. Normal cerebral hemispheres but dilatation of third ventricle and temporal horns was seen. On coronal CT (Fig. 2), the cerebellar hemispheres were widely separated ("winged" appearance), vermis was absent and the tentorium appeared superiorly displaced. The CT appearances were diagnostic of Dandy Walker malformation. A cystoperi-toneal shunt was advised but was refused by the child's parents.

Fig. 1. Axial CT Scan head showing large posterior fossa cyst communicating with fourth ventricle and associated defect in occipital bone (excised encephalocoele) with dilated ventricular system.

Fig. 2. Coronal CT Scan head. Tentorium is superiorly displaced, widely separated hypoplastic cerebellar hemispheres ("winged appearance of cerebellum") with absent vermis (shunt tube in the right lateral ventricle).

Dandy Walker malformation, is a rare entity occurring one in 25,000-30,000 births and is characterized by a triad of complete or partial agenesis of the vermis; cystic dilatation of fourth ventricle and enlarged posterior fossa; and upward displacement of lateral sinuses, tentorium and torcula. Commonly associated anomalies are hydrocephalus and encephalo-coele.

In children, other posterior fossa cysts are Dandy Walker variant, mega cisterna magna and arachnoid cyst. In Dandy Walker variant there is only a mild vermian hypoplasia, and in mega cisterna magna, the vermis, the cerebellar hemispheres and fourth ventricle are typically normal. In arachnoid cyst, the fourth ventricle and vermis are normal but displaced by the cyst.

Although, MR imaging exquisitely delineates cystic posterior fossa malformations, it is not superior to CT scan in their classification or differential diagnosis. These classifications are useful only in understanding the em

bryogenesis rather than in surgical management. The prognosis of these patients depends mainly upon decompression of the cyst by cystectomy or cystoperitoneal shunt at an early stage.

Shabnam Bhandari Grover,
Ashutosh Pathak, N.C. Saxena
Department of Radiology,