[en] This article describes a group of 22 pediatric patients with neuronal migration anomalies, studied in the department of neuro-pediatrics in the Hospital Militar Central. The clinical findings are emphasized and the value of diagnostic images in the identification and classification of these anomalies is shown

[en] Wyburn-Mason syndrome is a distinct congenital neurocutaneous entity comprised of ipsilateral arteriovenous malformations (AVMs) of the midbrain, vascular abnormalities affecting the visual pathway, and facial nevi. We report a case and review of the literature of all other reported cases of Wyburn-Mason syndrome (n = 26) in the English literature since 1973. In this review, we report on a 41/2-year-old boy with Wyburn-Mason syndrome who presented with left retinal and orbital AVMs and a ruptured thalamic AVM. The patient did not respond to light in the left eye and demonstrated a left afferent pupillary defect. He did not have any cutaneous lesions. We also characterize other reported cases of Wyburn-Mason syndrome. The presentation of patients with Wyburn-Mason syndrome can vary greatly according to the site and the extent of vascular lesions. Intracranial AVMs occasionally hemorrhage with significant morbidity. Treatment is controversial, and patients are typically managed conservatively by observation. (orig.)

[en] Arteriovenous malformations (AVM) are complex inborn malformations of the vascular system. In the brain they can lead to severe complications, such as parenchymal haemorrhaging, epileptic seizures or neurologic failure, which necessitates a safe diagnosis and therapy. In addition to conventional angiography, magnetic resonance imaging (MRI) and MR angiography (MRA) have now been established as the gold standard diagnostic procedures. Using MRA the angioarchitecture of malformations can be captured and with a parallel imaging of the parenchyme the method is very well suited for therapy planning and monitoring. This review summarizes the present day possibilities of multimodal MRT diagnosis of AVM and describes the purely morphologic as well as the physiologic and pathophysiologic characteristics. The various MR angiographic techniques will be firstly described with respect to the basic technical principles and the results obtained so far will be summarized. The principle of functional MRT will be described and the diagnostic possibilities with respect to AVM will be discussed. (orig.)

[en] Callosal fibres play an important role in psychomotor and cognitive functions. The purpose of this study was to investigate possible microstructural abnormalities of the corpus callosum in children with developmental delay, who have normal conventional brain MR imaging results. Seventeen pediatric patients (aged 1-9 years) with developmental delay were studied. Quantitative T2 and fractional anisotropy (FA) values were measured at the genu and splenium of the corpus callosum (CC). Fibre tracking, volumetric determination, as well as fibre density calculations of the CC were also carried out. The results were compared with those of the age-matched healthy subjects. A general elevation of T2 relaxation times (105 ms in patients vs. 95 ms in controls) and reduction of the FA values (0.66 in patients vs. 0.74 in controls) at the genu of the CC were found in patients. Reductions of the fibre numbers (5,464 in patients vs. 8,886 in controls) and volumes (3,415 ml in patients vs. 5,235 ml in controls) of the CC were found only in patients older than 5 years. The study indicates that despite their inconspicuous findings in conventional MRI microstructural brain abnormalities are evident in these pediatric patients suffering from developmental delay. (orig.)

No abstract available

[en] Chromosome 22q11.2 microdeletion syndrome (22q11DS) is characterized by cleft palate, cardiac anomalies, characteristic facies, high prevalence of skeletal anomalies and learning disability. To evaluate the prevalence of craniovertebral junction anomalies in children with 22q11DS and compare these findings to those in nonsyndromic children with velopharyngeal insufficiency (VPI). Sequential CT scans performed for presurgical carotid assessment in 76 children (45 children positive for chromosome 22q11.2 deletion and 31 negative for the deletion) with VPI were retrospectively evaluated for assessment of C1-2 anomalies. C1-2 vertebral anomalies, specifically midline C1 defects, uptilted or upswept posterior elements of C2 and fusions of C2-3, were nearly universal in our cohort of 22q11DS patients with VPI. They were strikingly absent in the majority of non-22q11DS patients with VPI. C1-2 vertebral anomalies, particularly those listed above, are important radiographic markers for 22q11DS. (orig.)

[en] Kirner deformity is characterized by volar and radial incurvature of the distal phalanx of the 5th finger. A proposed causative mechanism includes abnormal distal insertion of the flexor digitorum profundus tendon along the volar surface of the distal phalanx of the 5th finger. A chronic inflammatory process or altered vascularisation of the soft tissues has also been suggested as the underlying causative mechanism based on MRI findings. We present a teenage boy with Kirner deformity, along with supplementary imaging of his father who also has the deformity, to illustrate MRI findings that dispute the above hypotheses. MRI in both son and father show normal insertion of the deep flexor tendon and no signs of inflammation. (orig.)

[en] Radiographer reporting has been studied for plain films and for ultrasonography, but not in paediatric brain CT in the emergency setting. To study the accuracy of radiographer reporting in paediatric brain CT. We prospectively collected 100 paediatric brain CT examinations. Films were read from hard copies using a prescribed tick sheet. Radiographers with 12 years' and 3 years' experience, respectively, were blinded to the history and were not trained in diagnostic film interpretation. The radiographers' results were compared with those of a consultant radiologist. Three categories were defined: abnormal scans, significant abnormalities and insignificant abnormalities. Both radiographers had an accuracy of 89.5% in reading a scan correctly as abnormal, and radiographer 1 had a sensitivity of 87.8% and radiographer 2 a sensitivity of 96%. Radiographer 1 had an accuracy in detecting a significant abnormality of 75% and radiographer 2 an accuracy of 48.6%, and the sensitivities for this category were 61.6% and 52.9%, respectively. Results for detecting the insignificant abnormalities were poorer. Selected radiographers could play an effective screening role, but lacking the sensitivity required for detecting significant abnormality, they could not be the final diagnostician. We recommend that the study be repeated after both radiographers have received formal training in interpretation of paediatric brain CT. (orig.)

[en] Molybdenum cofactor is essential for the function of three human enzymes: sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase. Molybdenum cofactor deficiency is a rare autosomal recessively inherited disease. Disturbed development and damage to the brain may occur as a result of accumulation of toxic levels of sulphite. The CT and MRI findings include severe early brain abnormalities and have been widely reported, but the cranial US imaging findings have seldom been reported. We report a chronological series of cranial US images obtained from an affected infant that show the rapid development of cerebral atrophy, calcifications and white matter cysts. Our report supports the utility of cranial US, a noninvasive bed-side technique, in the detection and follow-up of these rapidly changing lesions. (orig.)

[en] Tracheal bronchus is a congenital bronchial anomaly. The diagnosis should be considered early in intubated patients. Multidetector computed tomography (MDCT) is the newest modality for evaluating tracheal bronchus. To evaluate the utility of 16-slice MDCT in children with tracheal bronchus and to characterize the frequency of tracheal bronchus in children with congenital heart disease. From June 2005 to May 2007, 3,187 consecutive children (1,124 with congenital heart disease and 2,063 without congenital heart disease) underwent MDCT examination. Minimum-intensity projection reconstruction was performed to show the tracheobronchial tree in every case. Tracheal bronchus was found in 42 children (3.74%) with congenital heart disease but in only 6 children (0.29%) without congenital heart disease. Among the 48 children with tracheal bronchus, 45 had right-side tracheal bronchus and 3 had bilateral tracheal bronchi with heterotaxy syndrome. The diagnostic sensitivity of MDCT was 100% (48/48). MDCT is a reliable imaging technique for the diagnosis of tracheal bronchus. Our data showed that right-side tracheal bronchus was more common and bilateral tracheal bronchi usually occurred with heterotaxy syndrome. In addition, tracheal bronchus often occurred with congenital heart disease. The angle between the tracheal bronchus and the trachea is important and should be measured. (orig.)