Prevalence of choroid plexus cysts in term and near-term infants with congenital heart disease.

OBJECTIVE: We retrospectively studied term and near-term infants to determine if there is an increased prevalence of choroid plexus cysts associated with congenital heart disease. MATERIALS AND METHODS: We reviewed 231 consecutive cranial ultrasound examinations from January 2005 through December 2008 on infants between 37-42 weeks of gestation (115 infants with and 116 without congenital heart disease). After exclusion for intracranial hemorrhage or anomalies excluding hydronephrosis, studies on 87 infants with and 99 without congenital heart disease were scored by a single pediatric radiologist blinded to clinical data for the presence of choroid plexus cysts. All studies used a multifrequency 6-8-MHz phased-array transducer. Results were analyzed using Pearson's chi-square test. RESULTS: Of 87 infants with congenital heart disease (53/87 [61%] cyanotic, 34/87 [39%] acyanotic), 26% (23/87) had choroid plexus cysts versus 12% (12/99) without heart disease (χ(2) = 4.48, p < 0.05). The rate of choroid plexus cysts in the cyanotic group (13/54 or 24%) and acyanotic group (10/33 or 30%) (χ(2) = 0.050, p > 0.05) were similar. Among 28 patients who underwent renal ultrasound, 50% (10/20) with congenital heart disease had choroid plexus cysts compared with 12.5% (1/8) of those without (χ(2) = 3.36, p < 0.10). CONCLUSION: We documented an increased prevalence of choroid plexus cysts in infants with congenital heart disease but no difference according to type. Our data revealed a possible association of choroid plexus cysts, hydronephrosis, and congenital heart disease. We suggest ultrasound evaluation of the kidneys and heart in infants with choroid plexus cysts.

Computed tomography scan measurement of abdominal wall thickness for application of near-infrared spectroscopy probes to monitor regional oxygen saturation index of gastrointestinal and renal circulations in children.

OBJECTIVES: To measure abdominal wall thickness to determine the depth at which the renal vascular bed and mesenteric vascular bed are located, and to determine the appropriate site for placement of near-infrared spectroscopy probes for accurate monitoring regional oxygen saturation index in children. DESIGN: Abdominal computerized tomography scans in children were used to measure the abdominal wall thickness and to ascertain the location of kidneys. SETTING: Tertiary care children's hospital. SUBJECTS: Children 0-18 yrs of age; n = 38. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: The main mass of the kidneys is located between vertebral levels T12 and L2 on both sides. The left kidney is located about a half-vertebral length higher than the right kidney. Posterior abdominal wall thickness ranged from 6.6 to 115.8 mm (median, 22.1 mm). Posterolateral abdominal wall thickness ranged from 6.7 to 114.5 mm (median, 19.6 mm). Anterior abdominal wall thickness in the supraumbilical level ranged from 3.5 to 62.9 mm (median, 16.0 mm). All abdominal wall thicknesses correlated better with weight of the subjects than their age. CONCLUSION: Abdominal wall thickness potentially exceeds the sampling depth of currently used near-infrared spectroscopy probes above a certain body size. Application of current near-infrared spectroscopy probes and design of future probes should consider patient size variations in the pediatric population.

Posterior dislocation of sternoclavicular joint encroaching on ipsilateral vessels in 2 pediatric patients.

Dislocation of the sternoclavicular joint (DSCJ) with posterior displacement of the clavicle is uncommon in children. This can lead to ipsilateral compression of the great vessels. Diagnosis may not be apparent on routine radiographs. Axial computed tomographic (CT) scan is the imaging of choice for diagnosis. Reconstruction and 3-dimensional (3D) views on CT scan may be helpful to define the anatomy before surgical reduction. We present 2 patients who had traumatic posterior DSCJ with compromise to their vascular structures. Patient 1 was a 13-year-old boy with posterior DSCJ on his left side that was not apparent on x-ray and that was diagnosed to have encroachment of the medial end of the clavicle on the left brachiocephalic vein on CT scan. Reconstruction and 3D views on CT scan were helpful in defining the anatomy before surgical reduction. The patient underwent emergent open reduction and internal fixation with complete recovery.Patient 2 was a 14-year-old boy with posterior DSCJ on the right side that was apparent on x-ray and was evaluated to have encroachment of the medial end of the clavicle on the right innominate artery with an associated paratracheal hematoma on CT scan. Reconstruction and 3D views on CT scan were also helpful in defining the anatomy before surgical reduction. The patient underwent a successful closed reduction with complete recovery.

Small bowel obstruction secondary to strangulation through a defect in the falciform ligament after blunt abdominal trauma in a pediatric patient.

Obstruction caused by strangulation internal hernia secondary to incarceration within the falciform ligament, although rare, has been previously reported in the literature. These cases, however, were unrelated to trauma. We report on the first case in the pediatric literature of a strangulated internal hernia secondary to incarceration in the falciform ligament precipitated by blunt abdominal trauma. A 12-year-old girl presented to the emergency room less than 24 hours after sustaining a kick to the right upper quadrant. She described sharp, nonradiating, right-upper-quadrant abdominal pain, which was associated with nausea and vomiting. A KUB (kidney, ureter, bladder) view showed a paucity of bowel in the right upper quadrant with distended adjacent bowel. An ultrasound showed a small amount of abdominal ascites and a prominent liver. Computed tomography scan revealed a linear hypodensity at the tip of the right lobe of the liver, suggestive of a laceration. Moderate abdominal and pelvic ascites and multiple collapsed small-bowel loops with diffuse wall thickening and poor enhancement were seen in the right upper quadrant. Significantly, pneumatosis was noted, raising the question of obstruction/volvulus and/or bowel ischemia. An exploratory laparotomy revealed incarcerated small bowel herniated into a defect in the falciform ligament, which was resected. The defect was repaired. Seemingly trivial trauma may play a precipitating role in strangulation in a patient who already has a defect in the falciform ligament.

Prepubertal unilateral fibrous hyperplasia of the labium majus: report of eight cases and review of the literature.

OBJECTIVE: To report and propose a consensus term for eight cases of a newly recognized, asymptomatic, rapidly growing unilateral labium majus mass without palpable borders in prepubertal girls, appearing to be temporally associated with the physiologic increase of adrenal hormones. METHODS: Histologic examination, special stains, and immunohistochemistry were performed on all cases. In our personal cases, electron microscopy and chromosomal analysis were also performed, together with pelvic magnetic resonance imaging (MRI), inguinal exploration, vaginoscopy with biopsies, and adrenal hormone levels. RESULTS: Of the eight cases, seven were Ashkenazi Jewish girls from the same area in New York City. The unilateral masses were asymptomatic, soft, without palpable borders. The overlying skin had a slightly tan peau d'orange surface. The masses could not be completely excised because they extended into the contiguous pelvic floor. Histologically, the masses were composed of bland hypocellular fibrous tissue extending into the deep subcutaneous tissue. The masses blended into the surrounding tissue and adjacent pelvic floor as shown by MRI preoperatively and postoperatively. Residual tissue did not progress after incomplete resection. CONCLUSION: These fibrous lesions develop in months at the time of physiologic increase in adrenal hormone secretion just before puberty and subsequently appear to stop growing. The surgeon should not attempt a complete removal but simply excise sufficient tissue for a reasonable cosmetic result and to confirm the diagnosis. The lesions reflect fibroblastic hyperplasia, which is possibly hormone-driven. The ethnic and geographic clustering of cases raises consideration of environmental exposures or genetic predisposition.

The hepatic fibrocystic diseases.

The hepatic fibrocystic diseases present with variable intrahepatic biliary abnormalities, which range from portal tract enlargement and fibrosis to cystic formations. They may present as autosomal recessive or dominant polycystic kidney diseases, with associated dilatation of the renal collecting system, or as incompletely characterized cystic diseases. Symptoms from the liver disease often result from complications of fibrosis or dilated ducts/cyst (sludge, lithiasis, infection). The treatment is supportive, with careful attention to associated renal disease. Liver transplantation is an option in selected patients.

Cardiac MR imaging assessment following tetralogy of fallot repair.

Survivors of tetralogy of Fallot (TOF) repair constitute a large and growing population of patients. Although postsurgical outcome is generally favorable, as these patients move into adulthood, late morbidity is becoming more prevalent and the notion that TOF has been "definitively repaired" is increasingly being challenged. Recent evidence suggests that adverse long-term postsurgical outcome is related to chronic pulmonary regurgitation, right ventricular dilatation, and deteriorating ventricular function. Cardiac magnetic resonance (MR) imaging has been established as an accurate technique for quantifying ventricular size, ejection fraction, and valvular regurgitation. Cardiac MR imaging does not expose the patient to ionizing radiation and is therefore ideal for serial postsurgical follow-up. Familiarity with the anatomic basis of TOF, the surgical approaches to repair, and postrepair sequelae is essential for performing and interpreting cardiac MR imaging examinations. For example, awareness of the complications and sequelae that can occur will assist in determining when to intervene to preserve ventricular function and will improve long-term outcome. Technical facility is necessary to tailor the examination to the individual patient (eg, familiarity with non-breath-hold modifications that allow evaluation of young and less compliant patients). The radiologist can play an essential role in the treatment of patients with repaired TOF by providing noninvasive anatomic and physiologic cardiac MR imaging data. Further technologic advances in cardiac MR imaging are likely to bring about new applications, better normative data, and more examinations that are operator independent.

Regional differences in right ventricular systolic function as determined by cine magnetic resonance imaging after infundibulotomy.

The right ventricle of subjects after infundibulotomy (n = 20) and of subjects free of right ventricular disease (n = 19) was partitioned into the infundibular and sinus segments to examine the relative size and function of each. Excellent agreement was found between observers for measuring regional volume and ejection fraction. Although the surgical subjects had lower infundibular ejection fraction and higher indexed volumes, most had preserved sinus ejection fraction.

The infant skull: a vault of information.

The art of interpreting skull radiographs is slowly being lost as trainees in radiology see fewer plain radiographs and depend more heavily on computed tomography and magnetic resonance imaging. Nevertheless, skull radiographs still provide significant information that is helpful in finding pathologic conditions and appreciating their extents. Abnormalities in the skull may be reflected as variations in the density, size, and shape of the skull, as well as skull defects. Skeletal dysplasias may manifest as a generalized decrease in calvarial density (hypophosphatasia, osteogenesis imperfecta), a generalized increase in calvarial density (osteopetrosis), or a focal increase in density (frontometaphyseal dysplasia). Diffusely decreased or increased calvarial density is usually associated with a process that affects the entire skeleton. Therefore, correct differentiation among these dysplasias depends on other concurrent features. Decreased size of the cranial vault at birth generally implies an underlying insult to the brain, including fetal alcohol syndrome and the so-called TORCH infections (toxoplasmosis, rubella, cytomegalovirus infection, herpes simplex). Macrocephaly may result from skeletal dysplasia or an increase in the intracranial volume (eg, due to underlying anomalies of the brain such as hydrocephalus).

Abdominoscrotal hydrocele: a rare cause of a cystic abdominal mass in children.

Abdominoscrotal hydrocele is a rare cause of cystic lower abdominal masses in children. A timely diagnosis is important because early surgical treatment is curative. Graded compression during the ultrasound evaluation might better demonstrate the communication between the abdominal and scrotal components of the fluid collection, thereby avoiding the use of ionizing radiation and/or the sedation required with alternative imaging modalities.

Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease: a new association.

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of ectatic renal collecting ducts, intrahepatic biliary dysgenesis, and portal fibrosis. Portal hypertension and recurrent bacterial cholangitis can dominate the clinical picture in long-term survivors. Predominant extrahepatic bile duct disease was revealed in four patients who underwent magnetic resonance cholangiopancreatography. All four patients had portal hypertension, although liver biochemistries did not suggest biliary disease. In two of the patients, cholangitis was clinically ascribed to the bile duct disease. Western blot analysis of plasma membranes from normal rat extrahepatic bile duct and kidney revealed the presence of polyductin as a single approximately 440 kDa protein. Although the exact function of polyductin in the extrahepatic duct is unknown, it may have a role in the development and control of lumenal size. Clinical management of patients with ARPKD should include consideration of potential problems related to extrahepatic bile duct disease.

New imaging applications in the evaluation of pediatric renal disease.

Continued improvements in imaging technology have changed many of the traditional diagnostic algorithms for evaluating pediatric renal disease. Newer imaging modalities offer more accurate, specific, and early diagnoses, but can be time consuming and costly. Less invasive modalities, such as ultrasound, computed tomography, and magnetic resonance imaging have widespread applications in pediatric practice. The risks of radiation exposure, contrast toxicity, and sedation or anesthesia versus the potential benefits of obtaining precise diagnostic information should always be considerations before electing any imaging procedure in children.

Pediatric ribs: a spectrum of abnormalities.

The manifestations of many congenital and acquired conditions can be seen in the ribs of children. Normal variants are usually clinically insignificant; they are occasionally palpated at clinical examination or detected incidentally at chest radiography. Signs of abnormality can appear in the ribs as variations in number, size, mineralization, and shape. These changes can be focal or generalized. Abnormalities detected in the ribs may be the initial indication of previously unsuspected systemic disease. The ribs can yield important diagnostic clues in the work-up of patients with congenital bone dysplasias, acquired metabolic diseases, iatrogenic conditions, trauma (especially child abuse), infection, and neoplasms. Routine evaluation of the ribs on every chest radiograph is important so that valuable diagnostic data will not be overlooked. The diagnostic information obtained from evaluation of the ribs can help tailor the radiologic and laboratory studies that may be necessary to complete a patient's diagnostic work-up.

Infantile leukemia presenting with cholestasis secondary to massive pancreatic infiltration.

We present a 10-week-old infant who presented with cholestasis. Biliary obstruction secondary to massive pancreatic infiltration was demonstrated by ultrasound. A diagnosis of acute lymphoid leukemia was confirmed. Enlargement of the pancreas is unusual both in this age group and in leukemia. Infantile leukemia, although rare and usually not associated with gastrointestinal presentations, should be considered as a cause of pancreatic enlargement and neonatal cholestasis.

MR cholangiography in the evaluation of neonatal cholestasis: initial results.

PURPOSE: To retrospectively analyze prospective magnetic resonance (MR) cholangiographic interpretations of findings and compare them with clinical outcome and to determine the accuracy of MR cholangiography in depicting extrahepatic biliary atresia and helping to distinguish it from other causes of neonatal jaundice. MATERIALS AND METHODS: Twenty-six infants (15 male, 11 female; median age, 2 months) underwent MR cholangiography with a 1.5-T MR imaging unit. Original interpretations were compared with clinical outcome. Statistical analysis was performed to determine the accuracy of MR cholangiography in depicting extrahepatic biliary atresia. Equivocal cases and any cases lost to follow-up were excluded. RESULTS: Findings in six of 26 infants were interpreted as normal, and none of five patients (one lost to follow-up) had biliary atresia or other surgical lesions; two were abnormal but not suggestive of biliary atresia (one false-negative finding); 12 were consistent with biliary atresia (three false-positive findings); four demonstrated a choledochal cyst; and two were equivocal. MR cholangiography accuracy was 82% (19 of 23); sensitivity, 90% (nine of 10); and specificity, 77% (10 of 13) for the detection of extrahepatic biliary atresia, with a positive predictive value of 75% (nine of 12) and a negative predictive value of 91% (10 of 11). CONCLUSION: Results of this study found that MR cholangiography is 82% accurate, 90% sensitive, and 77% specific for depicting extrahepatic biliary atresia. Contrary to previous reports, false-positive and false-negative findings occur at MR cholangiography.

Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.

OBJECTIVE: To describe the renal ultrasonography (US) and magnetic resonance imaging (MRI) findings in affected males and female carriers with the classic and cardiac variant phenotypes of Fabry disease (alpha-galactosidase A [alpha-Gal A] deficiency). METHODS: The renal US and MRI features of 76 classically affected males (aged 7-53 years), 40 female carriers from classically affected families (aged 18-66 years), and 6 males with the cardiac variant phenotype (aged 17-59 years) were reviewed by 3 blinded board-certified radiologists. The images were evaluated for the presence of cortical cysts, parapelvic cysts, renal atrophy, decreased cortical thickness, increased echogenicity (US only), and decreased corticomedullary differentiation (MRI only). The consensus findings were analyzed with respect to the patients' sex, age, Fabry genotype and phenotype, and renal function. RESULTS: MRI was more sensitive than US in detecting radiographic abnormalities. In the 76 classically affected males, the most common US abnormalities were cysts (36.9%; cortical cysts = 22.4%, parapelvic cysts = 14.5%), increased echogenicity (17.1%), and decreased cortical thickness (11.9%), whereas the most common MRI abnormalities were cysts (47.3%; cortical cysts = 28.9%, parapelvic cysts = 18.4%), loss of corticomedullary differentiation (43.4%), and decreased cortical thickness (7.9%). Among the 40 female carriers, common US abnormalities included cysts (20%; cortical cysts = 10%, parapelvic cysts = 10%) and increased echogenicity (7.5%), whereas MRI findings included decreased corticomedullary differentiation (40%) and cysts (37.5%; cortical cysts = 20%; parapelvic cysts = 17.5%). Renal US and MRI were normal in 5 classically affected males aged 12 years or younger and 2 female carriers aged 20 years or younger. Among the 6 male cardiac variants, abnormal US findings included cysts (66.3%; cortical cysts = 50%, parapelvic cysts = 16.3%) and increased echogenicity (33.3%), whereas MRI detected decreased corticomedullary differentiation in all (100%) and cysts in 83% (cortical cysts = 66.7%; parapelvic cysts = 16.3%). Serum creatinine levels were elevated (>1.2 mg/dL) in 40.8% and 15% of the classically affected males and female carriers with US and/or MRI abnormalities compared with 14.8% and 0%, respectively, who had elevated serum creatinine levels but no detectable radiographic abnormalities. There was no association of alpha-Gal A genotype with type or frequency of abnormalities in classically affected patients. CONCLUSIONS: Among classically affected males and female carriers, renal US and/or MRI abnormalities were detected in 64.5% and 60%, respectively. The occurrence and number of abnormalities increased with age in affected males and female carriers. Cysts, particularly parapelvic cysts, were more common and appeared earlier than in the general population. No renal abnormalities were detected in classically affected males or female carriers <12 years or <20 years of age, respectively. Five of the 6 males with the later-onset milder cardiac variant phenotype had loss of corticomedullary differentiation on MRI. Renal imaging abnormalities were more frequent in older patients with elevated serum creatinine levels, regardless of alpha-Gal A genotype or Fabry phenotype.

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive syndromes of unknown etiology characterized by multiple, recurring subcutaneous tumors, gingival hypertrophy, joint contractures, osteolysis, and osteoporosis. Both are believed to be allelic disorders; ISH is distinguished from JHF by its more severe phenotype, which includes hyaline deposits in multiple organs, recurrent infections, and death within the first 2 years of life. Using the previously reported chromosome 4q21 JHF disease locus as a guide for candidate-gene identification, we identified and characterized JHF and ISH disease-causing mutations in the capillary morphogenesis factor-2 gene (CMG2). Although CMG2 encodes a protein upregulated in endothelial cells during capillary formation and was recently shown to function as an anthrax-toxin receptor, its physiologic role is unclear. Two ISH family-specific truncating mutations, E220X and the 1-bp insertion P357insC that results in translation of an out-of-frame stop codon, were generated by site-directed mutagenesis and were shown to delete the CMG-2 transmembrane and/or cytosolic domains, respectively. An ISH compound mutation, I189T, is predicted to create a novel and destabilizing internal cavity within the protein. The JHF family-specific homoallelic missense mutation G105D destabilizes a von Willebrand factor A extracellular domain alpha-helix, whereas the other mutation, L329R, occurs within the transmembrane domain of the protein. Finally, and possibly providing insight into the pathophysiology of these diseases, analysis of fibroblasts derived from patients with JHF or ISH suggests that CMG2 mutations abrogate normal cell interactions with the extracellular matrix.