Prenatal diagnosis of choledochal cyst by magnetic resonance cholangiography.
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Biomedical subjects
Publications and source records attributed to Shin-Lin Shih.
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Gout presenting as an osteolytic lesion is exceedingly rare in children with asymptomatic hyperuricemia. We report the clinical and radiological presentation of intraosseous gout in a 13-year-old boy.
The length of the ossified part of the long bones of the upper (humerus) and lower limb (femur) as well as the axial length (that is, height) of the vertebral body of L1 were measured on a plain supine radiograph in 347 newborn babies (228 males, 119 females) with the gestational age (GA) from 26 to 41 weeks. All were admitted to the neonatal intensive care unit. Reasons for admission included hyaline membrane disease, meconium aspiration syndrome, neonatal asphyxia or transient tachypnea of the newborn. Patients with abnormal growth, gross anomalies, or who were the products of multiple births were excluded. The average weekly increment in the height of L1 for male infants born at GA varying from 26 to 41 weeks was 0.23 mm, for the humerus 1.82 mm and for the femur 2.35 mm. The corresponding data for females was 0.20 mm, 1.54 mm and 2.30 mm. The ratio of the height of L1 to body length progressively increased between 26 to 41 weeks. A growth spurt in L1 was noted for both sexes at 34 weeks of GA. Long bone growth was similar in male and female infants born before 36 weeks. However, the ratio of femur to body length in males increased after 36 weeks. The ratio of humerus to body length remained constant over the entire range of GA.
The authors report 2 cases of 4- and 5-month-old male infants who had esophageal stenosis after Pseudomonas aeruginosa sepsis. These 2 babies were immunocompetent. A focal narrowing of esophagus at the level of C7-T1 was found on esophagogram.
Xanthogranulomatous pyelonephritis is a rare disease in childhood. Because the symptoms and signs are chronic and non-specific, preoperative diagnosis is usually difficult. We report an 8-year-old boy who had an abdominal mass and anemia for more than 6 months. Fever and dyspnea occurred 4 days prior to admission. Ultrasonography revealed an enlarged right kidney with multiple parenchymal hypoechogenic areas, absence of normal parenchymal structures, and perinephric thickening with multiple calcifications. An abdominal computed tomogram demonstrated an irregular, enlarged right kidney with multiple low-density round areas consistent with hydronephrosis and calculi. Diminished excretion of contrast media and a severe perinephric inflammatory reaction were present. Poor right kidney function was demonstrated by Tc99m-diethylenetriamine penta-acetic acid split renal function examination. We diagnosed xanthogranulomatous pyelonephritis preoperatively based on the clinical and radiological features. The child first had drainage of an extrarenal abscess and antibiotic therapy, followed by definitive nephrectomy. The hospital course was complicated with pleural effusion, peritonitis, pelvic abscess, and sepsis. A two-stage nephrectomy requiring less radical resection and decreasing the surgical complications would have been preferable.
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BACKGROUND AND PURPOSE: Congenital nasal pyriform aperture stenosis (CNPAS) is an uncommon cause of nasal airway obstruction in neonates and infants. It is frequently associated with a single central maxillary incisor (SCMI). The purpose of this study was to assess whether 3-dimensional spiral computed tomography (3D spiral CT) could be used for the diagnosis of CNPAS and for detecting SCMI in CNPAS patients before tooth eruption. METHODS: From January 1996 to December 2001, 16 patients (mean age, 2 +/- 3 months) with clinically suspected CNPAS and 13 normal control subjects (mean age, 28 +/- 32 months) were studied prospectively by 3D spiral CT. On the 3D CT image of each subject, the middle pyriform aperture width (MPAW), upper 1/4 PA width (UPAW), and middle internasal process width (MINPW) were measured. In addition, the ratios of MINPW to MPAW and of MINPW to UPAW were calculated. SCMI was identified as a bigger tooth with singular convexity. RESULTS: SCMI was diagnosed in 11 of the 16 CNPAS patients. In the CNPAS patient group, the mean MINPW (5 +/- 1 mm) was significantly shorter than the mean MPAW (9 +/- 1 mm) and the mean UPAW (8 +/- 1 mm) [p < 0.001]. However, in the normal control group, the mean UPAW (13 +/- 2 mm) was significantly shorter than the mean MPAW (16 +/- 3 mm) and the mean MINPW (16 +/- 3 mm) [p < 0.01]. In the CNPAS patients, the mean ratios of both MINPW to MPAW (0.5 +/- 0.1) and of MINPW to UPAW (0.6 +/- 0.1) were significantly lower than the corresponding mean ratios in the normal control subjects (1.0 +/- 0.1 and 1.3 +/- 0.2, respectively; both p < 0.001). CONCLUSION: Our results indicate that CNPAS is frequently associated with a SCMI and CNPAS patients have a significant reduction in the MINPW and in the ratios of MINPW to MPAW and of MINPW to UPAW. We conclude that 3D spiral CT can be used for diagnosis of CNPAS and for detecting SCMI in CNPAS patients before tooth eruption.
OBJECTIVES: To present the perinatal findings and molecular cytogenetic analysis of a case with concomitant trisomy 16q and 22q13.3 deletion of paternal origin. CASE AND METHODS: A 24-year-old pregnant woman was referred at 30 weeks' gestation for suspected fetal abnormalities. Sonographic examination revealed decreased fetal movement, dolicocephaly, an asymmetric skull, and intrauterine growth restriction. Prenatal karyotyping was suggested but was declined. A female baby was delivered vaginally at 39 weeks' gestation with a body weight of 2180 g. The neonate presented generalized hypotonia with frequent apneic episodes and died at 1.5 months of age. Additional physical abnormalities included epicanthal folds, ptosis, frontal bossing with an enlarged metopic suture, bitemporal narrowing, hypertelorism, epicanthal folds, a pointed chin, micrognathia, prominent ears with preauricular pits, and clinodactyly. The karyotype from peripheral blood lymphocytes was 46,XX,der(22)t(16;22)(q12.1;q13.3)pat. The microdeletion at 22q13.3 was investigated by fluorescent in situ hybridization (FISH) analysis using the LSI DiGeorge/VCFS region/ARSA dual color DNA probe and the 22q telomeric probe, of which only the latter was able to detect the subtle deletion. Molecular analysis using polymorphic microsatellite markers indicated that the breakpoint at 22q13.31 was located between loci D22S1171 (present) and D22S1168 (absent). CONCLUSION: The use of LSI DiGeorge/VCFS region/ARSA dual color DNA probes to examine distal 22q would miss some subtle terminal deletions of 22q13. However, the use of 22q telomeric probes would detect these minute deletions. Fetuses having trisomy 16q and 22q13.3 deletion may prenatally manifest decreased fetal movement, dolicocephaly, an asymmetric skull, and intrauterine growth restriction and postnatally present generalized hypotonia with frequent apneic episodes.
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OBJECTIVES: Although most cases of Sotos syndrome are sporadic, familial cases have been described. In familial cases, the most likely mode of inheritance is autosomal dominant with variable expressivity. We present the perinatal imaging findings of an inherited case. CASE: This was the second pregnancy of a 32-year-old woman with Sotos syndrome. She had given birth to her first child with macrocephaly, ventriculomegaly, macrocisterna magna and neonatal death at 28 weeks' gestation. During this pregnancy, prenatal ultrasonography at 18 weeks' gestation showed only mild dilatation of lateral ventricles. The pregnancy was uneventful until 31 weeks' gestation when fetal macrocephaly, right hydronephrosis, and polyhydramnios began to develop. At 33 weeks' gestation, dilatation of the third ventricle and fetal overgrowth were obvious. At 34 weeks' gestation, macrodolichocephaly, hypoplasia of the corpus callosum, enlargement of the lateral ventricles with prominent occipital horns, and macrocisterna magna were noted. At 36 weeks' gestation, a male baby was delivered with macrodolichocephaly, frontal bossing and a facial gestalt of Sotos syndrome. Birth weight was 3822 g, length 55 cm, and occipitofrontal head circumference 41 cm (all > 97th centile). The magnetic resonance imaging (MRI) scans demonstrated enlargement of the lateral ventricles, the trigones, and the occipital horns, hypoplasia of the corpus callosum, a persistent cavum septum pellucidum and cavum vergae, and macrocisterna magna. CONCLUSIONS: Fetuses at risk for Sotos syndrome may present abnormal sonographic findings of the brain and the skull in association with overgrowth, unilateral hydronephrosis and polyhydramnios in the third trimester. Perinatal MRI studies aid in confirmation of the diagnosis.
We report on a 1-month-old boy who presented with a "horseshoe" lung, complete "O" rings of the trachea, and an unusual course of the left pulmonary artery mimicking a left pulmonary artery sling. Computed tomography, cardiac catheterization, and bronchoscopy were performed to confirm the rare coexistence of these anomalies. To our knowledge, such a combination of anomalies has not been reported in the English-language literature.
Perinephric abscess commonly arises from rupture of an intrarenal abscess into the perinephric space. It rarely results from gastrointestinal pathology. We report two pediatric patients with retrocecal appendicitis that presented with perinephric abscess. A 3-year-old girl presented with high fever and right flank pain for more than 1 week. Ultrasonography showed a right perinephric fluid collection with normal renal parenchyma and collecting system. A perinephric abscess extending from a ruptured retrocecal appendix was diagnosed by abdominal computed tomographic (CT) scan. Her hospital course was complicated with empyema, peritonitis, and pericardial effusion. A 6-year-old girl had lower abdominal pain for 3 days and high fever on the day of admission. Ultrasonography showed a right perinephric abscess with a normal renal contour and a fecalith in the enlarged appendix in the right lower quadrant of the abdomen. Appendectomy and drainage of the perinephric abscess were performed in both cases. We suggest that a ruptured retrocecal appendix must be considered in cases of perinephric abscess, especially in patients with gas bubbles in the abscess and a normal urogenital appearance. Ultrasonography and abdominal CT scan are the preferred diagnostic tools. Prolonged antibiotics and drainage of the abscess are mandatory to decrease morbidity and mortality.
OBJECTIVE: To assess the CT findings of the airway in children with mucopolysaccharidoses (MPS). MATERIAL AND METHODS: The study included 13 patients (9 boys, 4 girls; age range 2-17 years; mean age 9.2 years) with MPS: 6 with Hunter syndrome, 3 with Maroteaux-Lamy syndrome, 2 with Sanfilippo syndrome, 1 with Hurler/Scheie syndrome and 1 with Morquio syndrome. CT of the airways was done in the axial section with 3-mm collimation from the oropharynx at the level of C3 to the base of the lung. The shape of the vocal cords and trachea at the level of T1 was evaluated. The tracheal surface area (TSA) at the level of T1 was measured both in patients and in age-matched subjects. RESULTS: CT showed an abnormality of the vocal cords in 7 of the 13 patients. Six patients had an abnormal shape and 7 had an inhomogenous density. The abnormalities included elliptical (5 of 6) and star-shaped (1 of 6) cords. Eight of 13 tracheas were also abnormal, either U-shaped (6 of 8) or worm-shaped (2 of 8). The TSA was significantly smaller in patients (79.6+/-28.9 mm2) than in control subjects (138.1+/-50.1 mm2). The TSA of those < or =9 years was 61.4+/-15.2 mm2 as compared with 99.9+/-23.5 mm2 for the control group. The TSA of patients > or =11 years was 107.1+/-25.3 mm2 as compared with 187.6+/-32.0 mm2 for the control group. CONCLUSION: Significant changes in the shape of the vocal cords and trachea in patients with MPS were found. The most common abnormal configuration of trachea was the U-shape. The TSA was smaller in patients with MPS than in controls. The airway changes may be due to abnormal submucosal storage of substances such as keratan or dermatan sulfate.
BACKGROUND: Acute suppurative thyroiditis in children is rare and is often related to a pyriform sinus fistula or thyroglossal duct remnant, especially when it is recurrent. METHODS: From January, 1985, through December, 2000, 15 children with acute suppurative thyroiditis were treated. Their clinical, laboratory and radiologic findings were reviewed and analyzed. RESULTS: There were 8 girls and 7 boys, with a mean age at diagnosis of 6.1+/-2.9 years (range, 1.5 to 9.8). A thyroid mass was present on the left in 13 and on the right in 2 (P < 0.05). Fever, neck pain and swelling were the most common symptoms and signs. Seven patients (46.7%) had recurrent disease. Needle aspiration for Gram stain and bacterial cultures were done, and pathogenic organisms were identified on culture in 8 patients but were found only on Gram stain in 2 patients. In one-half of the patients with positive cultures, mixed pathogens were found. The most common organisms isolated were streptococcal species (50%). Barium esophagography was performed in all patients, and 5 (33.3%) had a pyriform sinus fistula on the left. Only 1 of the recurrent patients had a fistula. Thyroid scans were performed in 13 patients, of whom 12 (92.3%) had decreased radioactive uptake. Thyroid function tests were normal in all 15. CONCLUSIONS: Acute suppurative thyroiditis is usually caused by oropharyngeal flora, resulting in mixed pathogens on culture. Broad spectrum antibiotics should be given once cultures have been obtained. Imaging studies might be helpful in the diagnosis of acute suppurative thyroiditis.
Synovial osteochondromatosis is an uncommon disorder, generally seen in large joints such as the knee, elbow, shoulder, hip and ankle. We report a 35-year-old man with synovial osteochondromatosis of the metatarsophalangeal joint of the great toe. Despite the rarity of the location, the radiographic appearance ought to suggest the diagnosis. Histological confirmation is required, since malignancy cannot be totally ruled out clinically and radiographically.
We reviewed the unenhanced computer tomography (CT) scans of 53 patients with surgically proven acute cholecystitis, where 27 patients presented with hyperdense gallbladder wall. To our knowledge, this sign was never reported before. Because mucosa is highly sensitive to ischemia, early mucosal necrosis and hemorrhage may result in CT-detectable high density. Similar episode may also occur in acute cholecystitis. This sign also reflects high probability for acute gangrenous cholecystitis. We suggest that patients with this sign should have urgent treatment.