Cerebral Lateral Ventricular Asymmetry: Normal Variant or an Indicator of Underlying Pathology.

INTRODUCTION: Isolated lateral ventricular asymmetry has been associated with a favorable prognosis; however, prenatal evaluations in existing studies have been conducted using ultrasonography (US). This study aimed to describe the magnetic resonance imaging (MRI) findings, progression of ventricular asymmetry, and perinatal outcomes in fetuses prenatally diagnosed with isolated ventricular asymmetry. METHODS: This retrospective study included patients who underwent MRI for isolated fetal ventricular asymmetry at a tertiary center between January 2012 and January 2020. Information, including pregnancy history, US, MRI findings, and perinatal outcomes, was obtained from medical records. RESULTS: The study cohort included 17 women with fetal ventricular asymmetry but without ventriculomegaly at the time of index US. Mild ventriculomegaly subsequently developed in 13 patients; 12 of them showed spontaneous resolution before delivery. MRI identified low-grade intraventricular hemorrhage (IVH) in 13 fetuses. Postnatally, 12 newborns underwent neonatal cranial US where two of them showed evidence of germinal matrix hemorrhage. Both newborns appeared normal at birth without neonatal complications. CONCLUSION: MRI identified low-grade IVH in most fetuses with isolated ventricular asymmetry. These fetuses were also likely to develop mild ventriculomegaly with spontaneous resolution. Although perinatal outcomes appeared good, careful follow-up in both prenatal and postnatal periods is warranted.

L1CAM variants cause two distinct imaging phenotypes on fetal MRI.

Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic-mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing.

Hepatobiliary tumors.

The investigation of hepatobiliary tumors, in the pediatric population, usually begins with an ultrasonographic (US) examination. It is readily available without ionizing radiation and does not need sedation. Therefore US is an outstanding imaging modality for screening and follow-up. Doppler and color Doppler interrogation are part of the examination to assess vascularity of the lesions and vascular anatomy. Magnetic resonance imaging is a comprehensive imaging modality with multiplanar capability to assess the liver parenchyma, gallbladder, and biliary tree and is free of ionizing radiation. This article highlights the current status of imaging of the most common hepatobiliary tumors in children.

Spinal hamartoma with severe kyphoscoliosis--a rare case of spinal mass in a fetus.

Spinal hamartomas are rare lesions consisting of disorganized ecto- and mesodermal tissues of the spinal region. While postnatal identification of spinal hamartomas has been reported, a literature search did not reveal any published reports of prenatal identification of spinal hamartomas. Here we report a 46,XX fetus who presented at 20 weeks' gestation with a lower thoracic and lumbar kyphoscoliosis, suspected spina bifida, and amniotic fluid alpha-fetoprotein (AFP) levels within the normal range. Interestingly, autopsy at 22 weeks revealed a lumbosacral spinal hamartoma with kyphoscoliosis. We discuss the differential diagnosis for such spinal masses which includes congenital tumors and spinal dysraphism. This case illustrates that spinal hamartomas should be considered as part of the prenatal differential diagnosis of spinal dysraphisms, especially in the presence of normal AFP levels.

Polypoid PEComa in the rectum of a 15-year-old girl: case report and review of PEComa in the gastrointestinal tract.

PEComa of the gastrointestinal tract, composed of perivascular epithelioid cells with myomelanocytic differentiation, is rare with previous literature limited to 16 case reports. There is a marked female preponderance and approximately one-third of the cases occur in the pediatric age group. We report PEComa with lymph node involvement occurring in the rectum of a 15-year-old girl, treated by surgical resection and adjuvant chemotherapy. The patient is well at 9 months follow-up with neither radiologic nor endoscopic evidence of recurrence. We review the differential diagnosis of intestinal PEComa, which includes malignant melanoma, epithelioid gastrointestinal stromal tumors, clear cell sarcoma of soft parts, alveolar soft part sarcoma, leiomyosarcoma with HMB45 expression, and paraganglioma. Immunohistochemistry can rule out many of these morphologically similar tumors but differentiation from clear cell sarcoma may require reverse transcription-polymerase chain reaction. We discuss the determination of pathologic features indicative of malignancy in PEComa, which is complicated in the gastrointestinal tract due to the small number of cases, variability of pathologic features reported, and inconsistent reporting of outcome. All 4 tumors reporting early recurrence or progression were greater than 5 cm in size and had areas of coagulative tumor necrosis. In addition, high nuclear grade and lymphovascular invasion were seen in 2 of these 4 cases. We propose that a minimum dataset for gastrointestinal PEComa should include these features along with mitotic count, infiltrative border, and tumor stage analogous to that used in colorectal carcinoma.

Magnetic resonance imaging of pelvis and hips in infants, children, and adolescents: a pictorial review.

Due to its superior tissue resolution, magnetic resonance imaging has become the modality of choice for assessing pathologies of soft tissues, joints, cartilage, and bone marrow. This is also true in the pediatric population. This article reviews magnetic resonance imaging appearances and techniques for a variety of congenital abnormalities and acquired conditions including posttraumatic, infectious, inflammatory, ischemic, metabolic, benign, and malignant processes.

Magnetic resonance imaging of the urinary tract in the fetal and pediatric population.

Magnetic resonance imaging (MRI) has become an excellent modality for the assessment of renal pathologies in children; its multiplanar capability and soft-tissue contrast resolution allows for exquisite demonstration of the renal anatomy and its abnormalities. In this article, we illustrate and discuss MRI techniques and findings of the most commonly seen renal anomalies, including congenital, inflammatory, neoplastic, posttransplant, and miscellaneous conditions.

Evidence of three-dimensional variability in scoliotic curves.

In the current study, 98 patients with idiopathic scoliosis were selected for analysis. The object of this study was to determine whether three-dimensional variability exists within each class of the King classification, and to evaluate the currently used King classification in its ability to categorize different scolioses adequately. Anteroposterior and lateral radiographs were digitized, and three-dimensional models were reconstructed for each spine. Several parameters were recorded for each individual: age, gender, four Cobb angles, (1) anteroposterior, (2) lateral, (3) maximum (Cobb angle at the plane of maximum deformity), and (4) minimum (Cobb angle at the plane of minimum deformity), and the orientation of the planes of maximum and minimum deformity. Most of the curves were kyphotic, but a small percentage in each class were hypokyphotic or lordotic. This was not seen in the analysis in which the individual King classes were compared. It was seen, however, when the authors reanalyzed the data after having pooled the subjects and reclassified them according to presence or absence of kyphosis. The King classification was shown to be inadequate for describing spinal deformities in three dimensions, because different variants of sagittal spine configurations were seen which can look identical on the anteroposterior view. Therefore, the need for a new three-dimensional classification, which takes this variability into account, is established.

The ivory vertebra: an approach to investigation and management based on two case studies.

STUDY DESIGN: Case report. OBJECTIVES: To report and discuss the natural evolution of fortuitously found solitary radiodense or "ivory" vertebrae in two asymptomatic patients; to review the existing literature concerning ivory vertebrae; and to provide a practical guide for the diagnostic and management approach to the fortuitous finding of ivory vertebrae in asymptomatic patients. SUMMARY OF BACKGROUND DATA: The asymptomatic and apparently idiopathic ivory vertebra is often a very problematic clinical situation. Previous studies have hypothesized that although several etiologies have been known to be responsible for producing ivory vertebrae, the most likely etiology, particularly for so-called "idiopathic" ivory vertebrae, is early and asymptomatic Paget's disease of bone. METHODS: Two patients, each with an incidentally discovered ivory vertebra, were followed clinically over a period of 13 and 10 years, respectively. During this time the patients underwent a multitude of investigations in an attempt to identify the etiology of the ivory vertebra. After having eliminated ominous etiologies, the authors opted for a conservative approach to management (observation) so as to have a long-term follow-up of the patients and also attempt to determine the natural history of idiopathic solitary ivory vertebrae. RESULTS: Despite the extensive workups, no etiology was ever found for either patient because the tests showed normal results for extended periods of time. Whereas in one patient Paget's disease of bone was suspected, no definitive confirmation for the presence of Paget's disease could be obtained, even on bone biopsy. Both patients remained entirely asymptomatic with respect to the ivory vertebra over the entire follow-up period. CONCLUSION: Based on the observations from the present study as well as a review of the literature on the subject, a decision-making algorithm is put forth for the investigative approach as well as for the subsequent follow-up and management of patients with idiopathic and asymptomatic ivory vertebrae whereby, after baseline screening tests eliminate ominous pathology, observation and periodic clinical reassessment are advised until symptoms develop or until there are radiographic changes in the appearance of the ivory vertebra.