Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.

OBJECTIVE: We sought to create a classification system for pediatric corpus callosal abnormalities (CCA) based upon midline sagittal brain MRI. We used the term CCA for patients with structural variants of the corpus callosum, excluding patients with interhemispheric cyst variant or pure dysplasia without hypoplasia. Currently, no system exists for nonsyndromic forms of CCA, and attempts to create such a system have been hampered by highly variable morphology in patients with sporadic CCA. We reasoned that any useful strategy should classify affected family members within the same type, and that phenotypic variability should be minimized in patients with recessive disease. METHODS: We focused recruitment toward multiplex consanguineous families, ascertained 30 patients from 19 consanguineous families, and analyzed clinical features together with brain imaging. RESULTS: We identified 3 major CCA classes, including hypoplasia, hypoplasia with dysplasia, and complete agenesis. Affected individuals within a given multiplex family usually displayed the same variant of the class of abnormality and they always displayed the same class of abnormality within each family, or they displayed complete agenesis. The system was validated among a second cohort of 10 sporadic patients with CCA. CONCLUSIONS: The data suggest that complete agenesis may be a common end-phenotype, and implicate multiple overlapping pathways in the etiology of CCA.

Imaging of groin masses: inguinal anatomy and pathologic conditions revisited.

The groin region is subdivided into two distinct anatomic areas: the inguinal canal and the femoral triangle. A series of cross-sectional imaging cases illustrate that a good understanding of the local anatomic characteristics of the groin allows confident characterization of groin pathologic conditions. Such conditions can be classified into five major groups: congenital abnormalities, noncongenital hernias, vascular conditions, infectious or inflammatory processes, and neoplasms. Congenital entities include hernias, cysts, undescended testis, and retractile testes. Ultrasound (US) is useful in depicting these conditions. In the second group, noncongenital hernias, US allows visualization of bowel loops in peristalsis within the hernia. Herniography, computed tomography (CT), and magnetic resonance (MR) imaging are also helpful in diagnosis. Among vascular conditions, false aneurysms may be detected from the turbulent flow through the tract at Doppler US. The characteristic venous flow of varicoceles is best diagnosed with US during the Valsalva maneuver. Infectious or inflammatory conditions include, among others, hematomas, which appear hyperattenuating at CT and have variable appearances, depending on the age of the blood products, at MR imaging. The origins of neoplasms may be assessed at CT and MR imaging, although appearances of solid tumors are relatively nonspecific.

MR of hypoxic encephalopathy in children after near drowning: correlation with quantitative proton MR spectroscopy and clinical outcome.

BACKGROUND AND PURPOSE: Quantitative MR spectroscopy has a proved role in the investigation of hypoxia caused by near drowning. To date, no studies have addressed the MR imaging changes that may also accompany this condition. The purpose of this study was to describe the MR imaging findings in children with hypoxic encephalopathy caused by near drowning and to compare these findings with the results of qualitative and quantitative proton MR spectroscopy and clinical outcome. METHODS: Twenty-two children (6 months to 11 years old) admitted to the pediatric intensive care unit after near drowning incidents underwent cerebral MR imaging and quantitative proton MR spectroscopy. Clinical and imaging studies were reviewed retrospectively, and subjects were grouped according to outcome: good result, persistent vegetative state, and death. Images were scored for edema, basal ganglia changes, and cortical changes, and were compared with MR spectra and outcome at days 1 to 2, 3 to 4, and 5 or more. RESULTS: Six patients had a good outcome, four remained in a persistent vegetative state, and 12 died. Generalized/occipital edema correlated with poor outcome. Indistinct lentiform nuclei margins on T1-weighted images were a frequent finding (78%). Basal ganglia T2 hyperintensity correlated with poor outcome, progressing from a patchy/peripheral distribution to diffuse high intensity. Patchy high T2 signal in the cortex or subcortical lines were specific but insensitive for poor outcome, as were brain stem infarcts. CONCLUSION: MR images in children with hypoxic encephalopathy after near drowning show a spectrum of changes. The most sensitive prognostic result may be achieved by combining MR imaging with qualitative and quantitative MR spectroscopic data.

The Proteus syndrome: CNS manifestations.

Proteus syndrome is a complex hamartomatous disorder characterized by multiple, diverse, somatic manifestations. We present a case in which severe, evolving CNS abnormalities were also exhibited. Imaging findings at presentation included hemimegalencephaly, subependymal calcified nodules, and periventricular cysts. Subsequently, dural sinus thrombosis developed. Eight previously reported patients may also have had hemimegalencephaly. When neuroimaging studies show hemimegalencephaly in a child with pigmented skin lesions, Proteus syndrome should be considered in the differential diagnosis.

MRI of extracranial masses in children: the usefulness of gadolinium-chelate enhancement.

OBJECTIVE: This study evaluated the usefulness of gadolinium (Gd) chelates in magnetic resonance imaging (MRI) of extracranial pediatric mass lesions. MATERIALS AND METHODS: Seventy-five MRI studies were obtained on 60 children (mean age 5.06 years) with pathologically proven mass lesions. Post-contrast T1-weighted (T1W) images were compared with pre-contrast T1-weighted, T2-weighted (T2W) and both T1W and T2W images. They were evaluated for their ability to demonstrate lesion margins and extent, to add additional information, and to increase confidence in or change a diagnosis. In all patients post-contrast images were also evaluated for degree and pattern of enhancement. RESULTS: Malignant lesions enhanced much more intensely than benign lesions (P<0.0005). Lack of enhancement was seen only in benign lesions. A heterogeneous pattern of enhancement was more frequently seen in malignancy (P<0.05). Additional information was provided on Gd-enhanced T1W images in 36% of cases compared to unenhanced T1 and T2W images. Diagnostic confidence was improved in 29%. The Gd-enhanced images changed the diagnosis correctly in 5% and incorrectly in 1%. CONCLUSION: Post-contrast images clarified specific issues, better defined lesion extent and margins in a majority of cases, and gave additional useful information in selected cases.

Premature aging in persons with Down syndrome: MR findings.

PURPOSE: To determine whether persons with Down syndrome have features of premature aging on routine MR imaging sequences. METHODS: Sixty MR studies (in 30 persons with Down syndrome and 30 age- and sex-matched control subjects) were reviewed retrospectively by two blinded examiners. Sagittal T1-weighted and axial T2-weighted spin-echo images were evaluated for the presence and severity of three markers of brain aging: atrophy, white matter lesions, and T2 hypointensity of the basal ganglia, referenced to the examiner's internal standard of normal for that age and sex. RESULTS: Persons with Down syndrome had higher prevalence and severity of the three markers studied than the control subjects. Atrophy and white matter lesions increased in prevalence with age; abnormal T2 hypointensity of the basal ganglia was more equally distributed with age. CONCLUSION: Persons with Down syndrome have features of premature aging detectable at routine MR imaging.

Normal MR appearance of the pituitary gland in the first 2 years of life.

PURPOSE: To investigate changes in the size, shape, and signal intensity of the pituitary gland during the first 2 years of life. METHODS: One hundred consecutive MR studies, spin-echo T1- and T2-weighted sequences, of children 0 to 2 years of age were analyzed. Signal intensity and shape of the gland were graded and its signal intensity measured. RESULTS: There was a statistically significant difference in the signal intensity of both the anterior and posterior pituitary gland and in the shape between children younger than and older than 6 weeks of age and younger than and older than 27 weeks of age. There were definite trends in the size of the gland with age (decrease in height and increase in anteroposterior diameter and width). CONCLUSIONS: There are changes in the pituitary gland in the newborn period that may reflect the ongoing changes in pituitary hormones reported to occur during this time.

Giant adrenal myelolipomas: CT and MRI findings.

The computed tomographic (CT) and magnetic resonance imaging (MRI) features of three giant myelolipomas of the adrenal gland are presented in two patients. CT demonstrates large, fatty retroperitoneal tumors that may be confused with retroperitoneal liposarcoma or very large renal angiomyolipoma. MRI with coronal and sagittal imaging is more sensitive than CT in defining the most likely origin of these tumors as the adrenal gland.

The split notochord syndrome with dorsal enteric fistula.

Split notochord syndrome with dorsal enteric fistula is an extremely rare congenital anomaly that may be associated with meningomyelocele or meningocele, and genitourinary anomalies. This case presented with an additional finding of bladder exstrophy, raising the possibility of a relationship between this syndrome and the OEIS complex.

Phase III multicenter clinical investigation to determine the safety and efficacy of gadoteridol in children suspected of having neurologic disease.

A phase III open-label clinical trial was conducted at 11 institutions to determine the safety and efficacy of gadoteridol in children suspected of having neurologic disease. One hundred three children were included in the safety analysis; 92 were evaluated for efficacy (76 intracranial and 16 spinal examinations). Three adverse events were reported in two children. All adverse events were considered minor and resolved spontaneously without treatment or sequelae. In a comparison of enhanced T1-weighted magnetic resonance images with unenhanced T1- and T2-weighted images, enhancement of disease was noted in 70% of the intracranial and 38% of the spinal examinations. Additional diagnostic information was reported in 82% of the postcontrast intracranial examinations and 62% of the spinal examinations. Use of this additional information contributed to a potential modification of patient diagnosis in 48% of intracranial and 20% of spinal cases with additional information. These results indicate excellent safety and efficacy for use of gadoteridol in children with suspected intracranial or spinal disease.