Pediatr Radiol (1993) 23:111-112

Pediatric Radiology 9 Springer-Verlag 1993

Schinzel-Giedion syndrome and congenital megacalyces T. E. H e r m a n 1, D. A. S w e e t s e r 2, W. H. McAlister 1, S. B. D o w t o n 2 1 Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, USA 2 Division of Genetics, Elizabeth Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, USA Received: 1 October 1992/Accepted: 16 November 1992

Abstract. The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who had bilateral congenital megacalyces. Congenital megacalyces is believed to be a developmental abnormality, occurs in other malformation syndromes and has not previously b e e n described in the Schinzel-Giedion syndrome.

The Schinzel-Giedion sydnrome is characterized by mid face retraction, hypertrichosis, abnormal auricles, characteristic skeletal findings and so-called congenital hydronephrosis [1]. We report an infant with Schinzel-Giedion syndrome in w h o m an intravenous urogram and renal sonogram demonstrated bilateral congenital megacalyces and discuss this association.

Subsequently a renal ultrasonogram (Fig. 1), intravenous urogram (Fig.2) voiding cystourethrogram and furosemide radionuclide renogram were performed. The significant skeletal findings were broad ribs, particularly anteriorly, hypoplastic fight first rib, broad proximal and middle phalanges of the hands, narrow distal phalanges of the hands, slight sclerosis of the skull base, wide metopic suture, and broad ischial bones bilaterally. Bilateral marked caliectasis was present on the intravenous urogram and sonograms. The voiding cystourethogram was normal and the radionuclide renogram with furosemide induced wash-out phase was normal without evidence of obstruction. These findings in combination with the clinical appearance allowed a diagnosis of the Schinzel-Giedion syndrome. The metabolic abnormalities, including uremia, resolved quickly during the hospitalization on adequate oral and intravenous intake. The family was informed of the diagnosis of Schinzel-Giedion syndrome. The patient was discharged on seizure medication and frequent feedings to be followed closely.

Discussion Clinical history A. C. was admitted at 4 months old because of hyperkalemia, hyponatremia acidosis and uremia. The infant had been a 3600 g full-term infant delivered by repeat C-section. Dysmorphic features had been noted in the neonatal nursery including coarse facies. Studies at that time included normal chromosomes. During the weeks prior to admission the child had difficulty with feedings and episodes of head posturing and eye rolling. Examination at the time of the current admission demonstrated a microcephalic infant with a wide anterior fontanelle, hypertrichosis of her forehead, bushy eyebrows and a depressed nasal bridge. The weight was 5.15 kg (50th percentile), the head circumference 37.8 cm (less than the 5th percentile). The serum sodium and bicarbonate were low; the blood urea nitrogen was high. Because of the concern for congenital adrenal hyperplasia a cortisol level was drawn and was significantly elevated indicating a normal response to stress. Video electroencephalogram (EEG) demonstrated brief myoclonic seizures accompanied by epileptiform changes on the EEG. Skeletal radiographs were obtained.

Correspondence to: Dr. T. E. Herman, Department Radiology, Mallinckrodt Institute of Radiology, 510 South Kingshighway Blvd. St. Louis, Missouri 63110, USA

Schinzel-Giedion syndrome was certainly present in the infant reported. The characteristic skeletal features of Schinzel-Giedion syndrome include broad ribs [1, 2], 1st rib hypoplasia [1, 3], sclerosis of the skull base, wide sutures particularly the synchondrosis between the exocciput and supraocciput, multiple wormian bones, slightly broad proximal phalanges and middle phalanges and narrow distal phalanges in the hands, p o o r ossification or hypoplasia of the middle and distal phalanges of the feet [13], broad ischial bones and hypoptastic pubic bones [1]. Most of these features were present in this patient. Additional skeletal features described in the Schinzel-Giedion syndrome include polydactyly and talipes equiovarus. These were not present in this patient. Nonskeletal features seen include atrioseptal defect, hypospadias in males, hemangiomas of the face and abnormal auricles. The patient reported here had an atrioventricular canal and characteristic facies. So-called congenital hydronephrosis is an important feature of the Schinzel-Giedion syndrome [1-4]. This hydronephrosis has b e e n variably described as massive hy-

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Fig. 1. a (righO and b (left) LongitudonaI renal sonograms. There is bilateral hydronephrosis with significant medullary parenchymal thinning

Fig.2. Image from intravenous urogram with patient prone. There are numerous dilated and blunted calyces bilaterally. The right ureter is normal and not dilated; the left is minimally dilated

dronephrosis, but with short ureters [1], as pelvocalyceal dilatation [3] and as non-refluxing, non-obstructive dilatation. In our patient, a voiding cystourethrogram, intravenous urogram and renal ultrasonogram were performed because of the patient's uremia. There was no vesicoureteral reflux at the time of the voiding cystourethrogram. The ultrasonogram demonstrated hydronephrosis with blunted calyces. An intravenous urogram better delineated multiple polygonal appearing dilated calyces bilaterally. The number of calyces appeared to be increased. The pelves and ureters were less dilated than the calyces. Furthermore, the radio-nuclide renogram with furosemide-induced wash-out phase did not demonstrate evidence of obstruction. These are the usual findings of congenital megacalyces [5, 6]. Congenital megacalyces is believed to be due to an abnormal development of the renal medulla leading to hypoplastic renal pyramids and blunted calyces [5, 6]. Megacalyces may be unilateral or bilateral and is a nonprogressive dilatation of calyces occasionally accompanied by lithiasis, infection and hematuria, but with normal renal function. The renal pelvis and ureter are most frequently not dilated although primary megaureter can occur with megacalyces [7]. Congenital megacalyces has been reported to be a familial condition [8], and to be associated with other congenital malformation syndromes: cat-eye syndrome [9], a syndrome of phocomelia and heart disease [9] and with Hirschsprungs disease [8].

The patient reported had congenital bilateral megacalyces and the Schinzel-Giedion syndrome. Infants who have the Schinzel-Giedion syndrome should be imaged in sufficient detail to determine whether congenital megacalyces is a common cause of the congenital hydronephrosis in this syndrome.

References 1. Schinzel A, Giedion A (1978) A syndrome of severe midface retraction, multiple skull anomalies, clubfeet and cardiac and renal malformations in sibs. Am J Med Genet 1:361 2. Donnai D, Harris R (1979) A further case of a new syndrome including midface retraction, hypertrichosis and skeletal anomalies. J Med Genet 16:483 3. Kelley RI, Zachai EH, Charney EB (1982) Congenital hydronephrosis, skeletal dysplasia and severe developmental retardation: the Schinzel-Giedion syndrome. J Pediatr 100:943 4. Pul M, Nuran Y, Komsuoglu B (1990) The Schinzel-Giedion syndrome. Clin Pediatr 29:235 5. Kimsche D, Lask D (1982) Megacalycosis.Urology 19:478 6. Talner LB, Gittes RF (1972) Megacalyces. Clin Radio123: 355 7. Vargas B, Lebowitz RL (1986) Coexistence of congenital megacalyces and primary megaureter. A JR 147:313 8. Lam AH (1988) Familial megacalyces with autosomal recessive inheritance. Pediatr RadioI 19:28 9. Kozakewich HPW, Lebowitz RL (1974) Congenital megacalyces. Pediatr Radiol 2:251