Perinatal/Neonatal Casebook ⅢⅢⅢⅢⅢⅢⅢⅢⅢⅢⅢⅢⅢⅢ Special Imaging Casebook

Marilyn J. Siegel, Section Editor infant was noted to have bilateral postaxial polydactyly of the hands. Because of a bulging membrane at the vaginal introitus, perforation Contributed by: Thomas E. Herman, MD of a presumed hymen was performed with copious return of fluid. The Marilyn J. Siegel, MD child was then transferred to this hospital for further evaluation and treatment. Further evaluation, including fundoscopic examination, revealed a pigmented retinopathy. Sonography of the kidneys (Figure Case Presentation 1) and a voiding cystourethrogram and genitogram (Figure 2) were A 3800-gm girl was born at term at a rural hospital after an uncom- also performed. plicated pregnancy to a 28-year-old gravida 1, para 1 mother. The

From Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Mo.

Address correspondence and reprint requests to Thomas E. Herman, MD, Mallinckrodt Insti- tute of Radiology, Washington University School of Medicine, 510 S. Kingshighway Blvd., St. Louis, MO 63110.

Denouement and Discussion NEONATAL BARDET–BIEDL SYNDROME WITH RENAL ANOMALIES AND HYDROCOLPOS WITH VESICOVAGINAL FISTULA

Ophthalmologic, genetic, and imaging studies were all consistent neys with parenchymal thinning; bilateral, multiple renal calyceal with the Bardet-Biedl syndrome. The imaging studies demon- diverticula (multidiverticular renal dysplasia); and a histologic glo- strated a vesicovaginal fistula, an enlarged vagina, after treatment merulopathy and tubulo-interstitial nephropathy.3–5 Complications of for hydrocolpos at the outside hospital, and multidiverticular renal multidiverticular renal dysplasia include infection and stone forma- dysplasia. Bardet-Biedl syndrome is an autosomal recessive condition.2 The earliest finding of clinical renal disease is usually polydip- tion previously referred to as Laurence-Moon-Bardet-Biedl syn- sia and polyuria due to a concentrating ability resulting from de- drome. Laurence-Moon syndrome has been recently separated creased responsiveness to vasopressin. In some cases this may progress from the Bardet-Biedl syndrome.1 It is a very rare condition with to nephrogenic diabetes insipidus.6 some features of Bardet-Biedl syndrome but characterized addi- Multidiverticular renal dysplasia is characteristically a stable, tionally by spastic paralysis and ataxia. Six cardinal features are congenital anomaly not related to reflux.3,4 Radiographically similar now recognized for the Bardet-Biedl syndrome2: obesity (92%), cavities may be seen in renal tuberculosis, isolated calyceal diverticula, retinitis pigmentosa (92%), mental retardation (82%), polydactyly and renal papillary necrosis. The congenital nature and multiplicity of the (72%), hypogenitalism (67%), and renal disease (approximately diverticula excludes these diagnoses in Bardet-Biedl syndrome. 100%). Other occasional features include heart disease (7%) and Hypogonadism has been thought to be more common in male diabetes mellitus (32% of patients by 55 years of age).1 patients with Bardet-Biedl syndrome than in female patients.2 How- Complications of the Bardet-Biedl syndrome are often severe. ever, a search for internal anomalies in girls with Bardet-Biedl syn- Almost all patients are blind by 30 years of age. Hypertension re- drome often demonstrates hydrocolpos and vaginal atresia.7,8 Bardet- quiring medication occurs in 66% of patients. Approximately 25% Biedl syndrome should be added to the list of other conditions of patients are dead by 44 years of age; renal failure is frequently frequently associated with genital hypoplasia, including Kaufmann- the cause of death.1 McKusick syndrome, hereditary urogenital adysplasia, and MURCS The characteristic renal findings include calyceal clubbing syndrome.7 The latter two are possibly related syndromes of Mullerian and blunting in the absence of reflux; fetal lobulation; small kid- duct anomalies, renal anomalies, and in the patients with MURCS

Figure 1 Transverse sonograms of right kidney (A) and left kidney (B) and longitudinal sonogram of left kidney (C). Blunted, dilated calyces (C) with parencymal thinning is present. In addition, there are multiple calyceal diverticula extending into the cortices (arrows).

Figure 2 Anterior-posterior pelvis view (A) and lateral view of voiding cystourethrogram and genitogram (B). The hips are dislocated bilaterally. The bladder is normal. No vesicoureteral reflux was seen. There is a small fistula to the vagina (arrows). The vagina (V) is enlarged, consistent with the hydrocolpos treated at the outside hospital.

Journal of Perinatology (1999) 19(1) 74–76 75 Herman and Siegel Special Imaging Casebook

syndrome cervicothoracic somatime anomalies.9 Polydactyly occurs 4. Tieder M, Levy M, Gulber MC, Gagnadoux MF, Broyer M. Renal abnormalities in in Kaufmann-McKusick syndrome, renal anomalies, especially renal the Bardet-Biedl syndrome. Int J Pediatr Nephrol 1982;3:193–203. agenesis, occur in hereditary urogenital adysplasia syndrome, and 5. Cramer B, Green J, Harnett J, Johnson GJ, McNamamon P, Farid N, Pryse-Philips cervical spine anomalies and renal anomalies occur in the MURCS W, Parfrey PS. Sonographic and urographic correlation in Bardet-Biedl syndrome. syndrome. Urol Radiol 1988;10:176–80.

References 6. Fralick RA, Leichter HE, Sheth KJ. Early diagnosis of Bardet-Biedl syndrome. Pedi- 1. O’Dea D, Parfrey PS, Harnett JD, Hefferton D, Cramer BC, Green J. The importance atr Nephrol 1990;4:264–5. of renal impairment in the natural history of Bardet-Biedl syndrome. Am J Kidney 7. Stoler JM, Herrin JT, Holmes LB. Genital abnormalities in females with Bardet Dis 1996:6:776–83. Biedl syndrome. Am J Med Genet 1995;55:276–8. 2. Ucar B, Yakut A, Kural N, Buyukasik F, Bardarel E. Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of 5 cases. Pediatr Nephrol 1997; 8. Mehrota N, Taub S, Covert TF. Hydrometrocolpos as a neonatal manifestation 11:31–7. of the Bardet-Biedl syndrome. Am J Med Genet 1997;69:220. 3. Michel JR, Labrune M, Moreau JF, Brault B. Une nouvelle entite´ radio-clinique: la 9. deCassia R, Povenello M, Eigier A, Otto PA. Relationship between Mayer Rokitan- dysplasia re´nal multidiverticulaire: rapports avec le syndrome de Laurence-Moon- sky Kuster (MRK) anomaly and hereditary renal adysplasia (HRA). Am J Med Bardet-Biedl. Ann Radiol 1975;18:533–41. Genet 1988;29:845–9.

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