Noninvasive imaging of isolated persistent fifth aortic arch.

Persistent fifth aortic arch was suspected by echocardiography and confirmed by magnetic resonance imaging (MRI) in an infant with a heart murmur. Selected images including three dimensional reconstruction from MRI demonstrating this very rare congenital anomaly are presented.

Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs.

We describe two brothers with variable expression of a unique syndrome. One sib has postaxial polydactyly of the right hand and feet, two digits on the left hand (a thumb and first digit), bilateral ulnar ray dysgenesis, ectrodactyly of one hand, and ultrasonic evidence of cystic kidneys. His brother has postaxial polydactyly and small kidneys. The parents and a third sib are normal. They do not have the Pallister ulnar-mammary syndrome but may have an unusual form of the Weyers oligodactyly syndrome. This appears to be the first report of an acro-renal syndrome with ulnar dysgenesis, oligodactyly, polydactyly, and dysplastic kidneys.

Assessment of increase in renal pelvic size on post-void sonography as a predictor of vesicoureteral reflux.

BACKGROUND: During the course of our routine renal ultrasound examinations, we noticed that some children who developed dilatation of a renal pelvis following voiding had reflux found on voiding cystourethrography (VCUG). PURPOSE: To determine if increase in renal pelvic size on post-void ultrasound is an accurate predictor of vesicoureteral reflux. MATERIALS AND METHODS: Fifty-seven children (113 kidneys) underwent renal ultrasound and VCUG on the same day. Anteroposterior dimensions of the renal pelves were prospectively measured on ultrasound prior to and following patient voiding and correlated with the results of the VCUG. RESULTS: The diameter of the renal pelvis increased in 12 and decreased in 38 kidneys on post-void ultrasound. Vesicoureteral reflux occurred in 19 kidneys and among these kidneys, renal pelvic diameter increased in 2, decreased in 7, and was unchanged in 10 following voiding. There was no significant correlation between post-void change in renal pelvic diameter and the presence of vesicoureteral reflux. CONCLUSION: Increase in renal pelvic size on post-void ultrasound is not a reliable indicator of vesicoureteral reflux.

Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.

The Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disorder. It comprises a coarse face, short neck, hirsutism, joint laxity, and normal intelligence. Bone dysplasias, include acro-osteolysis, bathrocephaly, and vertebral anomalies. In 1988, Exner [1988: Eur J Pediatr 147:544-546] coined the term "serpentine fibula-polycystic kidney syndrome" (SFPKS) when he reported on a girl with short stature, unusual facial appearance, polycystic kidneys, and elongated curved fibulae. He postulated that it was a new entity different from the Melnick-Needles syndrome. Since his report, five similar cases have been published. Similarities between both HCS and SFPKS were noticed first by us and then by other authors. In this report we show that many clinical and radiological characteristics are shared by the HCS and the SFPKS and hypothesize that they represent a single entity with a variable degree of expression.

Endoscopic findings in hypertrophic pyloric stenosis: appearance in classic and evolving disease.

BACKGROUND: Hypertrophic pyloric stenosis (HPS) is the most common abdominal surgical disorder in infants. Although the majority of cases are diagnosed by ultrasound, equivocal cases may require endoscopy. This study was performed to assess the various endoscopic appearances of HPS in infants. METHODS: A prospective study comparing the endoscopic appearance of the antrum and pylorus of 18 children with HPS to 21 children in a normal control group. RESULTS: Antral or pyloric mucosal hypertrophy was visualized endoscopically in all 18 study patients. The degree of mucosal thickening varied depending on the age of presentation and duration of symptoms. Antral fold hypertrophy was first noted at 10 days of age, and in the oldest patient (4 months of age) a pyloric mass was noted. By comparison, 21 control infants had no evidence of antral or pyloric narrowing or mucosal thickening. CONCLUSIONS: Upper endoscopy can be a valuable adjunctive diagnostic tool in select cases of HPS when imaging tests are inconclusive or when infants present with clinical symptoms outside the typical age-time frame for HPS. Because HPS may evolve over time, it is important that the endoscopist recognize the different appearances of HPS.

Pseudoprune-Belly syndrome: imaging findings and clinical outcome.

OBJECTIVE: The purpose of this study was to describe the imaging features and clinical outcome of patients with an incomplete form of the prune-belly syndrome, called pseudoprune-belly syndrome. MATERIALS AND METHODS: Imaging and the clinical course of eight boys with pseudoprune-belly syndrome (prune-belly syndrome uropathy, normal abdominal wall examination, and incomplete or absent cryptorchidism) were retrospectively reviewed. RESULTS: Voiding cystourethrography (n = 8) showed a dilated posterior urethra and megacystis in each patient (100%) and vesicoureteral reflux in six (75%). Among the eight patients, IV urography (n = 7) and renal sonography (n = 4) showed dysmorphic kidneys in each patient (100%), with bilateral hydroureteronephrosis in six (75%), and unilateral hydroureteronephrosis with a poorly functioning (or nonfunctioning) contralateral kidney in two (25%). Urologic procedures included vesicostomy (n = 3, 38%), ileal conduit (n = 2, 25%), pyeloplasty (n = 2, 25%), ureteral reimplantation (n = 3, 38%), and nephroureterectomy (n = 3, 38%). Renal failure developed in five patients (63%). CONCLUSION: Uropathy in patients with pseudoprune-belly syndrome is typically moderate to severe. Despite urologic intervention, renal insufficiency develops in most patients.

Recognition of tubo-ovarian abscess in adolescents with pelvic inflammatory disease.

PURPOSE: Ultrasonography of the pelvis is commonly used to diagnose tubo-ovarian abscess (TOA) in patients with pelvic inflammatory disease (PID). Our objective was to determine whether the clinical features of PID differ in adolescents with and without TOA. METHODS: A retrospective design was used to derive and validate a clinical model differentiating adolescents with PID who did and did not have TOA. The study population consisted of hospitalized adolescents with a discharge diagnosis of PID. Of the 208 patients discharged from January 1, 1990, to July 31, 1993, 87 (42%) met published criteria for PID and comprised the derivation set. Of the 63 patients from August 1, 1993, to June 24, 1994, 30 (48%) met criteria and comprised the validation set. All patients had pelvic ultrasonography performed during hospitalization. The ultrasonography records were reviewed retrospectively for TOA, ovarian and uterine size, clarity of tissue planes, and endometrial or cul-de-sac fluid. Medical records were reviewed for sociodemographic characteristics, medical and sexual history, physical examination, laboratory results, and hospital course. RESULTS: TOA was present in 17% of the derivation set and 20% of the validation set. A six-variable model developed on the derivation set performed best in differentiating the TOA and non-TOA groups: last menstrual period > 18 days prior to admission (60% and 17%), previous PID (53% and 22%), palpable adnexal mass (13% and 3%), white blood cell count > or = 10,500/microliters (33% and 64%), erythrocyte sedimentation rate > 15 mm/h (33% and 64%), and heart rate > 90/min (40% and 78%). In the derivation and validation sets, the model correctly identified 78 and 83% of the TOA groups and 88 and 77% of the non-TOA groups. The area under the receiver operating characteristic curve of the model was 0.92 in the derivation set and 0.87 in the validation set. CONCLUSIONS: We conclude that clinical characteristics help identify adolescents with acute PID who have TOA. These patients may have fewer signs of acute illness than those without TOA and may develop symptoms later in the menstrual cycle.

Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred: clinical observations and genetic analysis.

Congenital obstructive anomalies of the urinary tract usually occur sporadically. We describe inheritance in a three-generation kindred of a spectrum of kidney anomalies consistent with an autosomal-dominant mode of transmission, with incomplete penetrance, calyectasis (maternal grandmother), infundibulopelvic stenosis (uncle), and multicystic kidney (male proband, age 4 years). The proband's mother, father and half sister had normal renal imaging studies. Inheritance of informative polymorphic markers (3'-HVR, GGG1, GGG9, SM-7, KG8, and CW3) mapping close to the adult polycystic kidney disease type 1 (PKD-1) and tuberous sclerosis (TSC-2) loci on chromosome 16p was evaluated by Southern blot studies and by PCR-based, fluorescent genotyping for linkage to phenotype. The 3 affected individuals, as well as the unaffected mother (obligate carrier) and unaffected half-sister, inherit a common chromosome haplotype linked to the PKD1 locus. Our findings support the hypothesis that these anomalies may be part of a spectrum of obstructive renal dysplasia which are inherited as a simple Mendelian trait exhibiting an autosomal-dominant mode of transmission with variable expression and incomplete penetrance.

Ovarian torsion: clinical and imaging presentation in children.

Ovarian torsion is uncommon and has a nonspecific clinical presentation. To determine the impact of imaging on clinical management, the authors reviewed their recent experience with 12 children who had a total of 13 episodes of ovarian torsion. Three children presented as neonates, six were premenarchal, and three were postmenarchal. Ultrasound was the imaging study of choice. In all three neonates, ultrasonography showed complex abdominopelvic cysts indicating the need for surgery. In five of 10 episodes in older patients, ultrasonography showed a solid mass with an appearance strongly suggestive of torsion. Same-day surgery was performed in three patients, and the involved ovary was salvaged in one. Another patient had a small piece of normal-appearing ovary left in situ. This low rate of ovarian salvage is attributable to the combination of delay in patient presentation and surgical delay owing to the often nonspecific clinical and imaging presentation of ovarian torsion. A high level of clinical suspicion, expeditious imaging, and familiarity with the varied clinical and imaging presentations of ovarian torsion should decrease the surgical delay and improve the likelihood of ovarian salvage.

Ureterocele eversion with vesicoureteral reflux in duplex kidneys: findings at voiding cystourethrography.

OBJECTIVE: Ureterocele eversion refers to the sudden appearance of a bladder diverticulum at the site of ureterocele compression during voiding cystourethrography (VCUG). The radiologic appearance closely resembles a congenital bladder (paraureteral) diverticulum. Distinguishing ureterocele eversion with vesicoureteral reflux in duplex kidneys from congenital bladder diverticula with reflux is important for preoperative planning. This study describes the findings of ureterocele eversion and lower pole vesicoureteral reflux in duplex kidneys on VCUG and demonstrates how its appearance can be misleading. MATERIALS AND METHODS: Medical records, sonograms, and cystograms were reviewed retrospectively for 12 children who had VCUGs demonstrating bladder diverticula with vesicoureteral reflux and who, at surgery, had ureteroceles associated with duplex systems. Each case was assessed as to whether the finding of a diverticulum with reflux on VCUG had been correctly interpreted as ureterocele eversion with lower pole vesicoureteral reflux. RESULTS: Diagnosis of ureterocele eversion with lower pole reflux was uncertain or misinterpreted as congenital bladder diverticula with reflux in five patients in whom ureteroceles were not identifiable or in whom reflux occurred into what resembled single systems rather than lower poles of duplex systems. In two patients in whom ureteroceles were not initially identified, fluoroscopy recognized ureterocele eversion with lower pole reflux. Sonography confirmed ureterocele in one of these patients, and cystoscopy in the other. CONCLUSION: Ureterocele eversion with lower pole vesicoureteral reflux is readily diagnosed by VCUG when a ureterocele is initially identified or if the fluoroscopic appearance is typical. Ureterocele eversion with lower pole reflux can be mistaken for a congenital paraureteral diverticulum with reflux into a single collecting system if the ureterocele is small or not initially detected or if the refluxed system is not recognized as a lower pole moiety.

Cystic kidney disease in Hajdu-Cheney syndrome.

We report on 2 unrelated patients with Hajdu-Cheney acroosteolysis syndrome, who had cystic kidneys with ultrasonographic changes similar to those of autosomal dominant polycystic kidney disease. Neither had a family history of Hajdu-Cheney syndrome or polycystic kidneys, nor manifestations of any other syndrome. On the basis of the findings in these 2 patients and a review of published cases, we suggest that cystic kidneys are an important component of Hajdu-Cheney syndrome.

Meconium hydrocele in a female newborn: an unusual cause of a labial mass.

Meconium peritonitis results from in utero perforation of the bowel and subsequent spillage of meconium into the peritoneal cavity. Free communication of the peritoneal space with the processus vaginalis during gestation permits formation of a meconium hydrocele. Meconium hydrocele has been reported in the newborn scrotum but to our knowledge there has been no previous report of meconium hydrocele in the labium of a female neonate. The predominance of meconium hydrocele in the male infant may be due to the obliteration of the processus vaginalis occurring later in the male than in the female fetus.

Ultrasonographic features of gastrointestinal duplications.

The variable sonographic appearance of duplication cysts is presented. Eighteen sonograms from 14 patients, aged 1 day to 8 years, were reviewed over an 8 year period. Water and other aqueous contrast agents were used in six patients as part of the sonographic evaluation. All lesions were confirmed by surgery. All but two patients were symptomatic. Twenty-four cysts were detected, ranging in size from 1.7 to 15.5 cm. The duplication cysts revealed a spectrum of sonographic findings (cystic to solid appearing masses). The mass characteristics, including the "muscular rim sign," and internal debris or hemorrhage, were demonstrated. Multiple unsuspected cysts (3 of 14 or 20%) and complications such as perforation were readily seen with ultrasonography. Serial sonograms demonstrated the changing morphology of two cysts. Other unsuspected intra-abdominal and pelvic pathologic conditions, including pyloric stenosis and ovarian cysts, were identified. Identification of the muscular rim sign is the most reliable indication of a duplication cyst. Multiple masses as well as possible accompanying anomalies in the abdomen and pelvis are readily evaluated with sonography. Lesions are easily followed with serial studies if there is no surgical intervention.

Cervical trachea: dynamics in response to herniation of the normal thymus.

Nineteen infants aged 2 months to 2.5 years, first seen predominantly with stridor, were noted to have intermittent soft-tissue mass effect in the upper airway during routine evaluation with fluoroscopic or radiographic methods. The cervicothoracic trachea was always buckled posteriorly and, in almost all instances, to the right during forced exhalation (crying). Real-time ultrasound examination with the neck extended was used in these patients to define the cause of the tracheal dynamics. The intermittent cephalic movement of the homogeneous echotextured thymus from the anterior mediastinum into the neck was determined to be the probable cause of the mass effect in these infants. Magnetic resonance imaging in three infants confirmed this finding. The intermittent, physiologic suprasternal movement of the thymus in these infants did not by itself cause any luminal compromise of the trachea and did not result in any respiratory difficulty in these infants.

Sonography of the knee in normal and abused infants.

Sonography of an infant's knee is relatively easy and can show the non-ossified cartilage and adjacent soft tissues with great clarity. The normal anatomic features are characteristic and easy to learn and recognize. In abused infants, sonograms can confirm subtle or questionable radiographic abnormalities. In infants with metabolic bone disease, detection of occult fractures of the epiphyses is clinically important. Metaphyseal abnormalities due to neonatal ricktes should not be mistaken as signs of child abuse.