Click on Images for Enlarged View

Findings:
1. Plain films : Images of the hands and feet demonstrate post-axial polydactly of both the right hand and left foot. There is also syndactly involving the right hand, fifth and sixth digits. In addition the metacarpals and proximal phalanges of both hands are abnormally short and widened.

2.Ultrasound of the kidneys and pelvis: Images demonstrate bilateral hydronephrosis. Within the pelvis, a large heterogeneous mass was identified which exerted marked mass effect on the overlying bladder. Initially it was thought this might represent the patient's uterus, however with additional scanning it was found to represent a distended vagina. The mixed echogenicity material contained within the vagina was felt to be secondary to blood and debris. The uterus was also identified and was not distended.

3.VCU#1: The initial VCU corroborates the ultrasound findings of marked mass effect on the bladder by the patient's distended vagina. The examination was performed because the patient was noted to have only one opening in the perineal region. Contrast administration demonstrated opacification of the bladder only. There was no opacification of the vagina or urogenital sinus.

4.VCU#2: A follow-up VCU was performed to seek a communication between the bladder and vagina. This was performed following an upper GI examination performed to evaluate for malrotation which was not present. The second VCU showed a dilated distal ureter on the left which had an ectopic insertion either inferiorly within the bladder or within the proximal urethra. A communication between the bladder and vagina was discovered. The patient appeared to have a thin septum between the two.

Diagnosis: McKusick-Kaufman Hydrometrocolpos-Polydactly Syndrome

Discussion: The McKusick-Kaufman syndrome, (MKS), was first described by Stjimorovic in 1956 and later by McKusick and Kaufman. This was found to be inherited in an autosomal recessive fashion. The hallmark features in these cases and in subsequent cases include postaxial polydactly and hydrometrocolpos in female patients. The diagnosis has also been made in male patients with polydactly who have an affected female relative.

In a series of six patients and review of previous cases by Chitayat et al, it was again shown that polydactly and hydrometrocolpos were the cardinal features of this syndrome, seen in 93% and 95% respectively. Additional less consistent findings were gastrointestinal abnormalities (28%) including: imperforate anus, rectovaginal or vesicovaginal fistula, Hirschprung's disease, and malrotation. Abnormalities of the cardiovascular system (9%) and eyes (5%), have also been described. Other manifestations invloving the limbs include developmental dysplasia of the hips and lower extremity edema. Vaginal duplication, cervical atresia, hypospadias, and undescended testicle are additional gential abnormalities.

In this patient as others, the presence of hydrometrocolpos can result in partial or complete obstruction of the bladder leading to dilatation of the proximal urinary tract. This can ultimately damage the kidneys and if occurring early in utero, can also cause oligohydramnios and pulmonary hypoplasia.

Chitayat et al and others have demonstrated the ability to diagnose this entity in utero in patients with a midline abdominal mass seen at sonography. Consideration of this entity in the appropriate setting may enable early intervention. Hydrometrocolpos may recur after therapy. Because of this and the associated risk of chronic renal failure, close medical follow up is recommended.

References:
Chitayat D, et al.: Further delineation of the McKusick-Kaufman
hydrometrocolpos-polydactly syndrome. Am. J. Dis. Child. 141:1133, 1987.

Farrell SA, et al: Abdominal distension in Kaufman-McKusick
syndrome. Am. J. Med. Genet. 25:205, 1986.

Taybi, Hooshong and Lachman, Ralph S., Radiology of Syndromes,
Metabolic Disorders, and Skeletal Dysplasias, 4th ed., 1996, 268-269.

Return to Pediatric Imaging Page