Harriet J. Paltiel

DIAGNOSTIC IMAGING IN THE EVALUATION OF VASCULAR BIRTHMARKS

This article reviews the role of modern diagnostic imaging in the evaluation of patients with vascular birthmarks. There are two main categories of vascular anomalies: hemangiomas and vascular malformations. The findings on plain radiography, sonography, computed tomography (CT), magnetic resonance imaging (MRI) and angiography, and the appropriate sequence of investigation for the different vascular anomalies are discussed.

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations

Capillary malformation‐arteriovenous malformation (CM‐AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and de novo occurrence were high. All affected individuals presented multifocal capillary malformations (CMs), which represent the hallmark of the disorder. Importantly, one‐third had fast‐flow vascular lesions. Among them, we observed severe intracranial AVMs, including vein of Galen aneurysmal malformation, which were symptomatic at birth or during infancy, extracranial AVM of the face and extremities, and Parkes Weber syndrome (PKWS), previously considered sporadic and nongenetic. These fast‐flow lesions can be differed from the other two genetic AVMs seen in hereditary hemorrhagic telangiectasia (HHT) and in phosphatase and tensin homolog (PTEN) hamartomatous tumor syndrome. Finally, some CM‐AVM patients had neural tumors reminiscent of neurofibromatosis type 1 or 2. This is the first extensive study on the phenotypes associated with RASA1 mutations, and unravels their wide heterogeneity. Hum Mutat 29(7), 959–965, 2008.

Hepatic vascular anomalies in infancy: A twenty-seven-year experience

OBJECTIVE Infantile hemangioma and arteriovenous malformation (AVM) of the liver have a similar presentation but a different natural history, and therefore require different treatment. This study was undertaken to clarify differential diagnosis and management of these two biologically distinct vascular disorders. STUDY DESIGN We retrospectively analyzed the records of 43 children with hepatic vascular anomalies treated during the past 27 years. RESULTS Ninety percent were hemangiomas (n = 39); 10% were AVM (n = 4). Infants with AVM or large solitary hemangioma had hepatomegaly, congestive heart failure, and anemia as presenting symptoms at birth. Multiple hepatic hemangiomas manifested at 1 to 16 weeks of age with the same clinical triad, plus multiple cutaneous lesions (19/23). The mortality rate after treatment of hepatic AVM was 50% (2/4). The mortality rates after treatment of liver hemangiomas were as follows: resection of solitary lesions, 20% (2/10); embolization, 43% (3/7); corticosteroids, 30% (3/10); and interferon alfa-2a, 15% (2/13). CONCLUSION Solitary hepatic hemangioma cannot always be distinguished from hepatic AVM without radiologic studies. Multiple hepatic hemangiomas are differentiated from hepatic AVM by coexistence of multiple cutaneous hemangioma and by radiologic imaging. We recommend combined embolization and surgical resection for hepatic AVM and for solitary symptomatic hemangioma, if drug therapy fails. Pharmacologic treatment is used for symptomatic multiple liver hemangiomas. Embolization allows interim control of heart failure. A decreased mortality rate after interferon alfa-2a therapy is encouraging.

Comparative assessment of pediatric testicular volume: orchidometer versus ultrasound.

PURPOSE Testicular volume measurements obtained with the Prader and Rochester orchidometers were compared to those obtained using scrotal ultrasound. The ability of each orchidometer versus ultrasound in detecting volume differential between 2 testes and the accuracy of orchidometer measurement by a less experienced examiner to that of a urologist were compared. MATERIALS AND METHODS A total of 65 males were examined by the attending urologist and urology nurse using the Prader and Rochester orchidometers, and scrotal ultrasound was subsequently performed by an attending radiologist. Statistical analysis of the results was performed to determine the correlation of orchidometer measurements between examiners, as well as with ultrasound, and sensitivity and specificity of orchidometer and ultrasound in detecting defined volume differentials between testes of 10%, 15%, 20% and 25%. RESULTS There was a strong linear relationship between testicular volume measurements using either orchidometer and ultrasound. To detect a defined volume differential as determined by ultrasound orchidometer sensitivity was weak, whereas orchidometer specificity was better. There was a strong correlation between orchidometer measurements of the urology nurse and attending urologist. CONCLUSIONS Although the orchidometer remains valuable in assessing size of the individual testis, it is too insensitive to volume differentials relative to ultrasound to be used routinely to determine growth impairment. For this reason observation of an adolescent with varicocele should include an annual ultrasound assessment of testicular volume.

A Standardized Assessment of Thyroid Nodules in Children Confirms Higher Cancer Prevalence Than in Adults

CONTEXT Thyroid cancer is the most common endocrine malignancy, but due to its rare occurrence in the pediatric population, the cancer risk of childhood thyroid nodules is incompletely defined, and optimal management of children with suspected nodules is debated. OBJECTIVE The aim was to study the presenting features and cancer risk of sporadic childhood thyroid nodules using a standardized clinical assessment and management plan. DESIGN AND SETTING Boston Childrens Hospital and Brigham and Womens Hospital collaborated to create a multidisciplinary pediatric thyroid nodule clinic and implement a standardized assessment plan. Upon referral for a suspected nodule, serum TSH was measured and hypothyrotropinemic patients underwent (123)I scintigraphy. All others underwent thyroid ultrasonography, and if this confirmed nodule(s) ≥ 1 cm, ultrasound-guided fine-needle aspiration was performed. Medical records were retrospectively reviewed and compared to a control population of 2582 adults evaluated by identical methods. PATIENTS AND RESULTS Of 300 consecutive children referred for the initial evaluation of suspected thyroid nodules from 1997 to 2011, 17 were diagnosed with autonomous nodules by scintigraphy. Neck ultrasonography performed in the remainder revealed that biopsy was unnecessary in over half, either by documenting only sub-centimeter nodules or showing that no nodule was present. A total of 125 children met criteria for thyroid biopsy, which was performed without complication. Their rate of cancer was 22%, significantly higher than the adult rate of 14% (P = .02). CONCLUSIONS Neck ultrasonography and biopsy were key to the evaluation of children with suspected thyroid nodules. Although the relative cancer prevalence of sonographically confirmed nodules ≥ 1 cm is higher in pediatric patients than adults, most children referred for suspected nodules have benign conditions, and efforts to avoid unnecessary surgery in this majority are warranted.

Safety of contrast-enhanced ultrasound in children for non-cardiac applications: a review by the Society for Pediatric Radiology (SPR) and the International Contrast Ultrasound Society (ICUS)

The practice of contrast-enhanced ultrasound in children is in the setting of off-label use or research. The widespread practice of pediatric contrast-enhanced US is primarily in Europe. There is ongoing effort by the Society for Pediatric Radiology (SPR) and International Contrast Ultrasound Society (ICUS) to push for pediatric contrast-enhanced US in the United States. With this in mind, the main objective of this review is to describe the status of US contrast agent safety in non-cardiac applications in children. The five published studies using pediatric intravenous contrast-enhanced US comprise 110 children. There is no mention of adverse events in these studies. From a European survey 948 children can be added. In that survey six minor adverse events were reported in five children. The intravesical administration of US contrast agents for diagnosis of vesicoureteric reflux entails the use of a bladder catheter. Fifteen studies encompassing 2,951 children have evaluated the safety of intravesical US contrast agents in children. A European survey adds 4,131 children to this group. No adverse events could be attributed to the contrast agent. They were most likely related to the bladder catheterization. The existing data on US contrast agent safety in children are encouraging in promoting the widespread use of contrast-enhanced US.

Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity.

Background: The diagnosis and management of vascular anomalies of the extremities can be challenging as these disorders are uncommon and may clinically overlap. The aim of this paper is to describe the clinical, radiologic, and histopathologic features of fibro-adipose vascular anomaly (FAVA), a previously unrecognized disorder of the limb. Methods: The clinical, imaging, operative, and histopathologic data from patients with a unique intramuscular lesion of the extremities comprising dense fibrofatty tissue and slow-flow vascular malformations were retrospectively reviewed. Results: Sixteen patients diagnosed with FAVA of the extremity (3 male and 13 female individuals) met the clinical, radiologic, and histopathologic inclusion criteria. The age at presentation ranged from the time of birth to 28 years. The locations of the lesions were: calf (n=10), forearm/wrist (n=3), and thigh (n=3). Fourteen patients presented with severe pain. Seven of the patients with calf lesions had limited ankle dorsiflexion. On imaging, the complex intramuscular lesions replaced muscle fibers with fibrofatty overgrowth and phlebectasia (dilation of the veins). The extrafascial component comprised fatty overgrowth, phlebectasia, and an occasional lymphatic malformation. The histopathologic features comprised dense fibrous tissue, fat, and lymphoplasmacytic aggregates within atrophied skeletal muscle. Adipose tissue also infiltrated skeletal muscle at the periphery of the lesion. There were large, irregular, and sometimes excessively muscularized venous channels and smaller, clustered channels. Other findings include organizing thrombi, a lymphatic component, and dense fibrous tissue–encircled nerves. Conclusions: The constellation of clinical, radiologic, and histopathologic features constitutes a distinct entity comprising fibrofatty infiltration of muscle, unusual phlebectasia with pain, and contracture of the affected extremity. The clinical and radiologic findings permit the diagnosis of FAVA with major therapeutic implications. Level of Evidence: Level III.

Role of spectral Doppler sonography in the evaluation of partial testicular torsion.

Objective. The purpose of this series was to evaluate the role of spectral Doppler and color flow Doppler sonography in the evaluation of partial testicular torsion. Methods. Eight cases of partial testicular torsion, diagnosed on the basis of abnormal spectral Doppler waveforms or abnormal color flow Doppler findings, were retrospectively pooled from 2 teaching hospitals. Results. The age group ranged from 4 to 85 years. Testicles with partial testicular torsion showed variable spectral Doppler patterns, including increased, similar, or decreased amplitude of the arterial waveform relative to the contralateral testicle. Two cases showed reversal of arterial diastolic flow, and 1 case showed diastolic flow variability within the same testicle. Decreased blood flow was observed on color flow Doppler sonography in 7 of the 8 patients. Conclusions. Variability of the Doppler waveform when compared with the contralateral testicle and reversal of diastolic blood flow are indirect clues that aid in the diagnosis of partial testicular torsion.

Prenatal Findings Associated with a Unilateral Nonfunctioning or Absent Kidney

Prenatal findings in infants who were postnatally found to have a unilaterally nonfunctioning cystic, dysplastic or absent kidney were evaluated to understand better the prenatal pathophysiology of these conditions. Of the 38 cases in which prenatal and postnatal renal imaging studies were done fetal renal conditions leading to postnatal dysplasia or absence included small echogenic kidneys in 3, typical multicystic dysplasia in 30, obstructive uropathy in 4 and perinephric urinoma in 1. Abnormalities were noted on postnatal imaging in 30% of the contralateral kidneys. Vesicoureteral reflux was the most commonly identified abnormality, occurring in 23% of the cases.

VARIABILITY OF DIURESIS RENOGRAPHY INTERPRETATION DUE TO METHOD OF POST-DIURETIC RENAL PELVIC CLEARANCE HALF-TIME DETERMINATION

PURPOSE We assessed variability in the interpretation of diuresis renography that may result from using different methods of clearance half-time determination. MATERIALS AND METHODS We reviewed 152 diuresis renography studies performed at diagnosis or during followup of 53 children enrolled in a prospective study assessing the natural history of unilateral neonatal hydronephrosis. Studies were classified as nonobstructive, indeterminate or obstructive using 4 methods of half-time determination. Intermethod correlation and agreement were evaluated. We compared the proportion of nonobstructive, indeterminate and obstructive classifications by each method, and the interpretation of individual studies based on each method. RESULTS Among methods we noted a high degree of correlation and fair to excellent agreement (Spearman rho = 0.86 to 0.92 and kappa = 0.57 to 0.86, respectively). However, in 27.8% of intermethod comparisons the proportion of studies classified as nonobstructive, indeterminate and obstructive differed significantly (p <0.05). The classification of pelvicaliceal drainage varied by method for all but the most severely dilated systems. In individual studies classification by 1 method was discordant with classification by another in 19% of comparisons. Of the discordant interpretations 97.7% involved nonobstructive versus indeterminate or indeterminate versus obstructive classifications. CONCLUSIONS Variability in classifying drainage patterns based on half-time requires that practitioners be circumspect when applying this parameter for managing asymptomatic hydronephrosis. It also necessitates the description of quantitative methodology in published series of this important clinical problem.