Ultrasound diagnosis of Clostridium difficile-associated diarrhea.

Clostridium difficile colitis is diagnosed using an immunoassay or polymerase chain reaction (PCR) assay for toxins A/B. Since ultrasound is frequently used as a screening test for hospitalized patients suffering from different abdominal morbidities, we searched for sonographic indicators of C. difficile infection (CDI). In a prospective and blinded case-control study, abdominal ultrasound was performed on hospitalized patients for whom stool samples were sent for C. difficile toxin immunoassay. All patients with positive toxin were included as the case group and patients with negative toxin comprised the control group. Sonographic parameters of both groups were compared. Demographic variables of the 67 patients in the toxin-positive group were similar to those of the 71 patients in the toxin-negative group. The sonographic parameters which were found to be associated with CDI included colonic wall thickening, appearing in 61 (91%) patients of the toxin-positive group versus 15 (21%) patients of the toxin-negative group (p < 0.001), and also internal ring (24 versus 0%, p < 0.001), external ring (15 versus 0%, p < 0.001), ascites (24 versus 10%, p < 0.001), and diminution of large bowel content (16 versus 1%, p < 0.001). Bowel wall thickening had high positive and negative predictive values (0.80 and 0.90, respectively), while the other features had only high positive predictive values (0.7-1.0). Abdominal ultrasound may contribute to the diagnosis of C. difficile colitis in patients developing hospital-acquired diarrhea.

Masculinizing genitoplasty in intersex patients.

PURPOSE: We reviewed cosmetic and functional outcome of masculinizing genitoplasty (MPG) in intersex patients assigned as a male performed in our service for more than 12 years. MATERIALS AND METHODS: A total of 57 patients underwent MPG in our department during a 20-year period. Of these cases MPG was performed using modern 1-stage surgical techniques from 1991 to 2003 in 39 (68%). Of the 39 children 8 (21%) had 17beta-hydroxysteroid dehydrogenase deficiency, 2 (5%) had 3beta-hydroxysteroid dehydrogenase deficiency, 8 (21%) had 5alpha-reductase deficiency, 2 (5%) had mixed gonadal dysgenesis, 1 (2.6%) was a true hermaphrodite, 1 (2.6%) had Klinefelter's syndrome, 1 (2.6%) had partially androgen insensitivity syndrome and 16 (41%) had idiopathic male pseudohermaphroditism. The presenting disease was severe proximal penoscrotal hypospadias in 30 cases (77%), perineal hypospadias in 9 (23%) and müllerian duct opening in the perineum along with the urethral meatus in 16 (28%). Median patient age at surgery was 1.8 years. MPG was performed with a transverse pedicled preputial island flap as an onlay in 29 cases (74%). The remaining 10 patients (26%) underwent tubularization of the mucosa in the perineal area and end-to-end anastomosis to a tube made from the pedicled prepuce. Scrotal transposition as well as orchiopexy was performed in some patients as an independent operation so as not to jeopardize the perineal and preputial flaps. RESULTS: In 23 (59%) of the 39 children 1 operation achieved satisfactory cosmetic and functional results in terms of good urinary stream and straight phallus during erection. Three (7%) children presented with various degrees of breakdown of the urethroplasty and required a repeat operation. In 5 patients (12.8%) a small urethral fistula developed and closure was performed. CONCLUSIONS: A 1-stage male genitoplasty for male pseudohermaphroditism is accompanied by a reasonable incidence of major complications. It should be performed in early childhood to avoid psychological and social anxiety by the child and parents.

Does prenatal diagnosis influence the morbidity associated with left in situ nonfunctioning or poorly functioning renal moiety after endoscopic puncture of ureterocele?

PURPOSE: We compared long-term morbidity associated with left in situ nonfunctioning or poorly functioning renal moiety of a duplex system in children with prenatal vs postnatal diagnosis of ureterocele who underwent endoscopic puncture. MATERIALS AND METHODS: A total of 48 children underwent primary endoscopic puncture of duplex system ureterocele. Of the cases 35 (73%) were diagnosed prenatally (group 1) and 13 (27%) postnatally (group 2). Median age at time of puncture was 4 months in group 1 and 3.5 years in group 2. A total of 20 patients in group 1 (57%) and 8 in group 2 (62%) presented with intravesical ureterocele, while 15 in group 1 (43%) and 5 in group 2 (38%) had ectopic ureterocele. A total of 20 children in group 1 (57%) and 7 in group 2 (54%) had a nonfunctioning renal moiety, and 15 in group 1 (43%) and 6 in group 2 (46%) had a poorly functioning ureterocele moiety. Vesicoureteral reflux (VUR) was present in 23 children in group 1 (66%) comprising 30 renal refluxing units (RRUs), and in 12 in group 2 (92%) comprising 14 RRUs. Median followup was 9 years (range 1 to 15) for both groups. RESULTS: Preoperative urinary tract infection (UTI) was common in group 2 (92%) vs group 1 (20%). No patient in group 1 had development of UTI after puncture, while 23% of the children in group 2 presented with UTI. Four children (2 from each group) with ectopic ureterocele required secondary puncture resulting in satisfactory drainage. A total of 14 RRUs (47%) showed spontaneous resolution of VUR in group 1 compared to 3 (21%) in group 2. Four RRUs (13%) required endoscopic correction due to high grade VUR in group 1. Two RRUs (17%) were treated with endoscopic correction and 2 (17%) with ureteral reimplantation due to UTI in group 2. Only 1 patient in group 1 underwent nephrectomy due to nonfunctioning kidney, while 2 patients in group 2 required partial nephrectomy due to UTI. CONCLUSIONS: Our data reveal that prenatal diagnosis of duplex system ureterocele is associated with fewer UTIs, and early endoscopic management may decrease UTI and the need for additional surgery. Nonfunctioning or poorly functioning renal moieties left in situ following successful endoscopic decompression of ureterocele are not associated with additional morbidity and do not require partial nephrectomy in the majority of the cases.

Postpartum ovarian vein thrombophlebitis: sonographic diagnosis.

BACKGROUND: We describe our experience with sonographic diagnosis of ovarian vein thrombosis, an uncommon but dangerous postpartum complication. METHODS: We retrospectively reviewed the medical records of seven patients in our institution who developed postpartum ovarian vein thrombophlebitis within the past 5 years. RESULTS: In all cases the diagnosis was made by ultrasound, which showed tubular hypoechoic masses lateral to the great abdominal vessels. The postpartum ovarian vein thrombophlebitis was on the right side in six cases and on the left side in one. In five cases, it protruded into the inferior vena cava. The first three cases were referred to computed tomography after the sonographic diagnosis. In the last four cases, the diagnosis relied solely on sonography and no further evaluation was necessary. CONCLUSION: Sonographic examination can be diagnostic for ovarian vein thrombosis if performed very carefully in symptomatic postpartum patients.

Ultrasound vs CT for the detection of ureteric stones in patients with renal colic.

The aim of our study was to compare the accuracy of non-contrast spiral CT with ultrasound (US) for the diagnosis of ureteral calculi in the evaluation of patients with acute flank pain. 62 consecutive patients with flank pain were examined with both CT and US over a period of 9 months. All patients were prospectively defined as either positive or negative for ureterolithiasis, based on follow-up evaluation. 43 of the 62 patients were confirmed as having ureteral calculi based on stone recovery or urological interventions. US showed 93% sensitivity and 95% specificity in the diagnosis of ureterolithiasis; CT showed 91% and 95%, respectively. Pathology unrelated to urinary stone disease was demonstrated in six patients. Although both modalities were excellent for detecting ureteral stones, consideration of cost and radiation lead us to suggest that US be employed first and CT be reserved for when US is unavailable or non-diagnostic.

Lung involvement and enzyme replacement therapy in Gaucher's disease.

Symptomatic lung involvement in Gaucher's disease is relatively rare, being restricted to patients with other severe manifestations. We describe our experience in eight of 411 patients in our referral clinic, who presented with prominent pulmonary signs or symptoms. There were four adults and four children; all have been successfully treated with enzyme replacement therapy. Routine means of monitoring pulmonary status including clinical assessment, chest X-ray, pulmonary function tests, and high-resolution CT (HRCT) were used. Enzyme treatment resulted in decreased hepatosplenomegaly, improved haematological parameters, and increased well-being; There was decreased clubbing and decreased dyspnoea in some of the patients, although on radiology, lung pathology had not normalized. All four children showed improved respiratory compliance, with significant improvement of the radiological findings in one and unchanged disease in the others. Two adults showed improvement in oxygen saturation but worsening of pulmonary hypertension. On chest X-ray, both had increased interstitial markings; one had gradual progression of pulmonary artery accentuation and fine interstitial stable pattern on HRCT. The other two adults had no change in lung function or on chest X-ray, but on HRCT there was apparent improvement in one patient. There is great heterogeneity in presentation and response to enzyme therapy in patients with Gaucher's disease and symptomatic lung involvement. Clinically, some benefited significantly from enzyme therapy, but in contrast to the dramatic reduction in organomegaly, there was no normalization in pulmonary function or lung architecture.

Outcome of total hip arthroplasty in patients with Gaucher disease.

This retrospective survey includes 29 total hip arthroplasties (THAs) in 23 patients with Gaucher disease, with heterogeneous techniques, with various prostheses, and performed by 9 different surgical teams. THA was discouraged in patients with Gaucher disease because of a tendency toward infection, poor bone matrix because of Gaucher cell infiltration, and deterioration of matrix with disease progression. Subjective assessment of pain and function, objective examination of outcome, and radiologic signs of loosening after THA were evaluated. In primary THAs, there was enhancement of quality of life, allowing restoration of full participation in normal activities; function was improved; radiologic evidence of loosening was low; and there were no infections. In revisions, the results were not as good. THA is recommended in this population using criteria comparable to those in other patients, with equally good results.

Withdrawal of enzyme replacement therapy in Gaucher's disease.

Although enzyme replacement therapy is safe and effective in ameliorating the signs and symptoms of Gaucher's disease, some patients have withdrawn from treatment. The purpose of this study was to evaluate the response to withdrawal and to discuss the implications for patients currently on unaltered therapy regimens since the advent of treatment. Fifteen patients, who had been treated with enzyme replacement for 5-56 months and then withdrew for 8-47 months, were assessed for changes in haematological parameters and in liver and spleen index volume. Despite non-uniformity of duration of on and off periods, degree of organomegaly, anaemia and thrombocytopenia, most patients did not revert to respective baseline values in most parameters after withdrawal. None of the patients suffered exacerbation of bone involvement or had new or aggravated pulmonary hypertension. Adult patients with stable Gaucher's disease may be withdrawn from therapy for circumscribed periods without forfeiting most gains accrued during enzyme therapy. Therefore, stopping and restarting may be considered in some patients. Alternatively, maintenance at reduced dosage and/or frequency may be appropriate in some adult patients who are stable or non-responsive after the first years of enzyme therapy. This caveat does not apply to children.

Torsion of the fundus of gallbladder demonstrated on ultrasound and treated with ERCP.

A rare case of torsion of the gallbladder fundus, which was diagnosed by ultrasound and endoscopic retrograde cholangiopancreatography (ERCP) and released during ERCP, is presented. The case illustrates the sonographic and ERCP findings of this rare condition and suggests using ERCP as a therapeutic tool.

Familial Mediterranean fever: abdominal imaging findings in 139 patients and review of the literature.

BACKGROUND: The purpose of this study was to investigate the imaging findings in patients with familial Mediterranean fever (FMF) during and between acute attacks. METHODS: Computerized search of medical records from 1989 to 1998 identified 139 patients with a discharge diagnosis of FMF. Medical records, imaging studies, and pathologic findings were reviewed. RESULTS: Sixty-eight patients had a documented acute attack of FMF, and 71 patients known to have FMF were asymptomatic. Imaging was performed in 68 patients. Radiologic findings included ascites, splenomegaly, hepatomegaly, lymphadenopathy, focal peritonitis, peritoneal cysts, renal changes, and other incidental findings. CONCLUSIONS: Radiologic findings in symptomatic and asymptomatic FMF patients are not uncommon. Imaging in selected cases may facilitate diagnosis and show complications.

Echinococcal ovarian cyst. A case report.

BACKGROUND: Echinococcal disease, although known to occur in most organs and body areas, is extremely rare in the female reproductive system. A literature search revealed only three anecdotal non-English language case reports of ovarian echinococcosis. CASE: A 20-year-old woman presented with epigastric pain. Abdominal ultrasonography and computed tomography showed three multicystic masses, one intrahepatic, one intraperitoneal and the third situated in the left ovary. Serologic examination confirmed the diagnosis of echinococcal disease. Marked regression of all the cysts occurred following a short course of albendazole. CONCLUSION: Echinococcal cysts should be included in the differential diagnosis of multicystic ovarian lesions if the patient has cysts elsewhere and is from an endemic area.

Transabdominal pelvic sonography in the preoperative evaluation of patients with congenital adrenal hyperplasia.

PURPOSE: We assessed the clinical value of transabdominal pelvic sonography in the preoperative evaluation of patients with congenital adrenal hyperplasia (CAH) who required feminizing genitoplasty. METHODS: From 1987 to 1998, 31 patients with female pseudohermaphroditism due to CAH underwent feminizing genitoplasty. The median age of the patients was 9 months (range, 1-18 years). Radiologic evaluation performed before surgical reconstruction included retrograde genitography in the first 10 patients and sonographic examination in all 31 patients. Imaging was used to evaluate the anatomic positions and the length of the vagina, whether the junction of the vagina and the urogenital sinus occurred distal or proximal to the pelvic floor, and the presence of internal genitalia. RESULTS: Abdominal sonography identified internal female genitalia in all 31 patients, identified the anatomic shape and position of the vagina in 30 patients (97%), and confirmed the site of communication between the vagina and the urogenital sinus relative to the pelvic floor in 28 patients (90%). Sonographic findings were confirmed by intraoperative panendoscopy. Genitography was less useful than sonography, identifying the site of communication between the vagina and urogenital sinus in only 6 (60%) of 10 patients. CONCLUSIONS: In patients with CAH undergoing vaginal reconstruction, sonography provides adequate information about the anatomy of the vagina and urogenital sinus for surgical decision-making.

Primary epiploic appendagitis: clinical and radiological manifestations.

BACKGROUND: Primary epiploic appendagitis is a relatively rare condition in which torsion and inflammation of an epiploic appendix result in localized abdominal pain. This is a non-surgical situation that clinically mimics other conditions requiring surgery such as acute diverticulitis or appendicitis. OBJECTIVE: To investigate the clinical, laboratory and radiological findings of the disease. METHODS: During the years 1995-88 five patients with primary epiploic appendigitis were diagnosed at our institution. The clinical, laboratory and imaging results were summarized and compared to previously reported series. Emphasis was placed on the computed tomography findings, which are the gold standard for diagnosis. RESULTS: All our patients (two males and three females, mean age 47 years) presented with left lower quadrant abdominal pain. CT proved to be the imaging modality of choice in all patients by showing a pericolic fatty mass with an increased attenuation as compared to normal abdominal fat. In all cases the mass was surrounded by a high attenuation rim, and focal stranding of the fat was observed. In no case was there thickening of the adjacent bowel wall. This serves as an important, and previously unreported, clue for diagnosis. CONCLUSION: Primary epiploic appendagitis is a relatively rare condition that may be clinically misdiagnosed, resulting in unnecessary surgical intervention. Judicious interpretation of CT may lead to early diagnosis and ensure proper conservative treatment.