Antenatal visualization of the caudo-thalamic groove at expert fetal neurosonography.

OBJECTIVE: to describe the normal features of the caudo-thalamic groove at antenatal brain ultrasound in a group of structurally normal fetuses at third trimester and to report a small series of cases with abnormal appearance of the caudothalamic groove at antenatal brain ultrasound. METHODS: This was an observational study conducted at two referral Fetal Medicine units. A non-consecutive cohort of pregnant women with a singleton non anomalous pregnancy were prospectively recruited and underwent 3D ultrasound of the fetal brain at 28-32 weeks. At offline analysis the ultrasound volumes were adjusted in the multiplanar mode according to a standardized methodology, until the caudothalamic groove was visible on the parasagittal plane. To evaluate the inter-observer agreement, two operators were independently asked to indicate if the caudothalamic groove was visible unilaterally or bilaterally on each volume. The digital archives of the two Centres were also retrospectively searched to retrieve cases with abnormal findings at the level of the caudothalamic groove at antenatal brain ultrasound which were postnatally confirmed. RESULTS: 180 non-consecutive cases fulfilling the inclusion criteria were prospectively included. At offline analysis of the 3D US volumes the caudo-thalamic groove was identified on the parasagittal plane by both operators at least unilaterally in 176 cases (97.8%) and bilaterally in 174 cases (96.6%). The K-coefficient for the agreement between the two independent operators in recognizing the caudo-thalamic groove was 0.89 and 0.83 on one and both hemispheres respectively. At the retrospective search of our archives 5 cases with abnormal appearance of the groove at antenatal brain ultrasound (2 haemorrhage and 3 cyst) were found. CONCLUSION: Our study has demonstrated that the caudo-thalamic groove is consistently seen among normal fetuses at third trimester submitted to multiplanar neurosonography and that abnormal findings at this level may be antenatally detected. This article is protected by copyright. All rights reserved.

Prenatal diagnosis and outcome of fetuses with isolated agenesis of septum pellucidum: cohort study and meta-analysis.

OBJECTIVE: To evaluate the postnatal outcome of children with a prenatal diagnosis of apparently isolated agenesis of the septum pellucidum (ASP). METHODS: A retrospective cohort study of cases of prenatally diagnosed ASP followed in two tertiary centers and a meta-analysis combining data from the cohort study with data from published studies identified in a systematic review were carried out. Only cases with apparently isolated ASP on antenatal ultrasound and/or magnetic resonance imaging and with available postnatal follow-up data were considered eligible for inclusion. The following outcomes were analyzed: incidence of chromosomal anomalies, agreement between antenatal and postnatal findings, overall incidence of septo-optic dysplasia (SOD) and incidence of major neurological disability (motor, language, coordination or behavioral disorder or epilepsy) in non-SOD children. The incidence of SOD in infants with apparently normal optic pathways on antenatal imaging was also evaluated. RESULTS: Fifteen cases of isolated ASP, with median postnatal follow-up of 36 months (range, 12-60 months), were selected from the two centers. Six previously published studies met the inclusion criteria for the systematic review and a total of 78 cases were eligible for the analysis, including the 15 cases from our series. Genetic tests were carried out antenatally in 30 fetuses, of which two had an abnormal result (pooled proportion, 9.0% (95% CI, 1.8-20.7%); I2 = 0%). Additional or discordant imaging findings were noted postnatally in 9/70 (pooled proportion, 13.7% (95% CI, 3.5-29.0%); I2 = 63.9%) cases. Of all 78 neonates with available follow-up, SOD was diagnosed postnatally in 14 (pooled proportion, 19.4% (95% CI, 8.6-33.2%); I2 = 51.2%). In 60 cases, the optic pathways were considered to be normal on antenatal imaging, and six of these (pooled proportion, 9.1% (95% CI, 1.1-24.0%); I2 = 62.0%) were diagnosed postnatally with SOD. Of the 46 infants with available neurological follow-up who were not affected by SOD, a major neurological disability was diagnosed in three (pooled proportion, 6.5% (95% CI, 0.5-18.6%); I2 = 40.1%). CONCLUSIONS: In the vast majority of cases with a prenatal diagnosis of apparently isolated ASP, the prognosis is favorable. However, an additional anomaly is detected after birth in about 14% of cases and has a negative impact on clinical outcome. Detailed antenatal assessment of the brain and optic pathways is strongly recommended in order to identify the presence of associated anomalies. Antenatal visualization of apparently normal optic pathways does not rule out SOD. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Cortical malformations and COL4A1 mutation: Three new cases.

AIM: The COL4A1 gene (13q34) encodes the α1 chain of type IV collagen, a crucial component of the basal membrane. COL4A1 mutations have been identified as a cause of a multisystem disease. Brain MRI in COL4A1-mutated patients typically shows vascular abnormalities and white matter lesions. Cortical malformations (specifically schizencephaly) have also recently been described in these patients, suggesting that these, too, could be part of the phenotypic spectrum of COL4A1 mutations. The aim of our work was to retrospectively evaluate COL4A1-mutated subjects diagnosed at our centers in order to assess the frequency and define the type of cortical malformations encountered in these individuals. METHOD: We retrospectively reviewed MRI data of 18 carriers of COL4A1 mutations diagnosed in our centers between 2010 and 2016. RESULTS: We identified polymicrogyria in two patients, and schizencephaly in the mother of a further patient. INTERPRETATION: Our findings confirm that cortical malformations should be considered to fall within the phenotypic spectrum of COL4A1 mutations and show that not only schizencephaly but also polymicrogyria can also be found in mutated individuals. Although further studies are needed to clarify the underlying pathogenetic mechanism, independently of this, the timing of the brain damage could be the crucial factor determining the type of lesion.

Influenza A H1N1 Related Acute Necrotizing Encephalopathy: Radiological Findings in Adulthood.

In 2009 a novel swine-origin Influenza A H1N1 virus was identified in Mexico and Southern California. Since it was first recognized, neurological complications including acute necrotizing encephalopathy (ANE) have been globally documented in association with this viral infection. ANE is mostly known to occur in the paediatric population. We describe a fatal case of ANE in a previously healthy 40-year-old man infected with influenza A H1N1 virus presenting with severe neurologic decline. Computed tomography (CT) scan and magnetic resonance imaging (MRI) findings were consistent with ANE. CT and MR findings typically documented in paediatric cases of ANE - including bilateral thalamic necrosis with petechial hemorrhage - have been seldom described in adulthood.

Acute necrotizing encephalopathy in a child during the 2009 influenza A(H1N1) pandemia: MR imaging in diagnosis and follow-up.

The recently emerged novel influenza A(H1N1) virus continues to spread globally. The clinical disease generally appears mild, but unfavorable outcomes have been reported. We describe a case of a 3-year-old Italian girl infected with influenza A(H1N1) virus presenting with neurologic deterioration. CT findings were negative, but MR imaging findings were consistent with ANE. To our knowledge, this is the first case reported in Europe and the second in worldwide pediatric radiology literature.

Basilar Dependence on a Persistent Hypoglossal Artery Visualized at CT Angiography. A Case Report.

The persistent hypoglossal artery is a rare perseverance of an embryonic vessel connecting the anterior and posterior circulations and is generally considered an incidental finding. This report describes a patient with a basilar dependence on a persistent hypoglossal artery visualized at CT angiography. The pertinent findings and clinical implications of this anomalous vessel are discussed.

Desmoplastic Fibroma of the Mandible: Usefulness of CT and MR Imaging in Diagnosis and Treatment. A Case Report.

Desmoplastic fibroma (DF) is a rare non-metastasizing benign neoplasm of the bone characterized by aggressive local infiltration, also known as desmoid tumour. Desmoplastic fibroma of the mandible may recur locally when incompletely excised. In particular it can occur adjacent to and display contiguous extension along the mandibular nerve. This case report describes the imaging findings of a histopathologically proven desmoplastic fibroma involving the right mandibular region in a three-year-old Italian girl. We also discuss the usefulness of different imaging modalities (CT and MRI) in DF diagnosis and treatment.

MR and Diffusion Tensor Imaging of Vein of Galen Aneurysmal Malformation in an Infant Presenting with Spastic Diplegia and Seizures. A Case Report.

A three-year-old girl developed spastic diplegia to the right and irregular tonc-clonic movements. Phenobarbital was started because of suspected seizure activity. The Pediatric unit asked for brain MR imaging to investigate neurological symptoms. MR and diffusion tensor imaging showed a haemorrhagic vein of Galen aneurysmal malformation (choroidal type) that shifted the corticospinal tract fibres to one side and the corpus callosum was moved forward. Vein of Galen aneurysmal malformations (VGAM) are characterized by multiple arteriovenous connections draining into a markedly enlarged median draining vein. This ectatic vein is not the vein of Galen, but its embryonic precursor, the median prosencephalic vein of Markowski. During normal development, the posterior portion of the median prosencephalic vein persists as the vein of Galen, while its anterior portion regresses in parallel with the formation of the internal cerebral veins (ICV). With the advent of endovascular neurointerventional techniques, the prospects for successful treatment of these lesions, once dismal, are now much improved. MR and diffusion tensor imaging can help in diagnosis and to guide endovascular interventional procedures.

Diffusion Tensor MR Imaging Tractography of the Pyramidal Tracts and Corpus Callosum in Children with Right-Sided Congenital Hemiparesis. A Case Report.

This study used diffusion tensor tractography to evaluate the diffusion parameters of the corpsus callosum and asymmetry in the diffusion parameters of the corticospinal tracts in children with congenital hemiparesis. Precision moving critically correlates with the integrity of the pyramidal tracts as evidenced in congenital hemiparesis by the correlation found between corticospinal lesions and motor deficits. Therefore we hypothesize that diffusion parameters correlate with the severity of hemiparesis measured using the Bayley Scales of Infant Development.

Aberrant Mid-Sagittal Fiber Tracts Visualized by Diffusion Tensor MR. A Case Report.

In hemimegalencephaly, MR imaging often reveals mid-sagittal band-like structures between the lateral ventricles. We describe the clinical presentation, morphologic abnormalities, conventional MR imaging, diffusion tensor MR and fiber tract (FT) reconstruction in a 14-year-old boy with unilateral hemimegalencephaly. We retrospectively examined MR images to determine whether these structures are aberrant mid-sagittal fibers.

Occasional finding of a dural arteriovenous fistula in a newborn with orbital lymphangioma. A case report.

Dural arteriovenous fistulas (DAVF) are vascular malformations rarely occurring in the paediatric population (1,2,3). Prompt diagnosis and treatment are mandatory to prevent life-threatening complications including congestive heart failure and severe brain injury (1,2). We describe the case of a female newborn with an orbital lymphangioma treated for a posterior fossa DAVF. We emphasize the role of MR imaging as a useful non-invasive tool in the diagnosis of these malformations and in the evaluation of associated brain parenchymal lesions.

Formation of intracerebral cavernous malformation after radiation treatment for medulloblastoma in a child.

Cavernous malformations (CMs) are one of the four major types of vascular malformations of the central nervous system (CNS). Literature reports also term them cavernomas, cavernous angiomas, angiographically occult vascular malformations and cavernous hemangiomas.CMs are composed of well-circumscribed vascular channels containing blood at various stages of evolution and show a low-flow vascular pattern. They have usually been considered developmental lesions of the intracranial vasculature, but recently the de novo appearance of these malformations has been observed with increasing frequency.We describe a case of sporadic de novo formation of a CNS cavernous malformation following radiation treatment in a child with medulloblastoma. We review the patient's clinical course and the literature focusing on the role of radiation therapy in the pathogenesis of CMs.

Refractures in cemented vertebrae after percutaneous vertebroplasty and pain relief after a second procedure: a retrospective analysis.

Refractures of cemented vertebrae occasionally occur after vertebroplasty. It is unclear whether such fractures are procedure-related or part of the natural course of osteoporosis and neoplasy. Our aim was to identify why there is an increased risk of subsequent fracture in cemented vertebrae. We retrospectively analyzed the incidence and possible causative mechanism of refracture in patients who had received vertebroplasty for multiple levels of vertebral compression fracture and the reduction of pain after a subsequent vertebroplasty procedure. A total of 356 patients were evaluated with follow-up from June 2003 to September 2008. We identified 59 refractured patients (54 osteoporotic and four neoplastic). Refractures of cemented vertebrae after vertebroplasty occurred in 59 patients (16%: 98% osteoporotic and 2% neoplastic). Refractures occurred in 8% at the same level as the first vetebroplasty, 31% at an inferior level, 19% at a superior level, 41% at superior and inferior levels and 1% at superior and same levels. Pain was significantly reduced after retreatment in 45 patients (76%) with a moderate reduction in 14 patients (24 %). In conclusion, significant anterior vertebral height restoration increases the risk of subsequent fracture in cemented vertebrae.

Pseudotumoural Hemicerebellitis: Conventional MR Imaging and MR Spectroscopy Evolution. A Case Report.

Acute cerebellitis is an inflammatory process commonly involving both cerebellar hemispheres. Bilateral cerebellar hemispheres involvement is the most common finding. It typically occurs as a primary infectious, post-infectious or post-vaccination disorder, but is also a disease entity with heterogeneous pathogenesis including paraneoplasia. Acute cerebellitis is usually a benign, self-limiting and rarely fatal disease. Typically, cerebellar atrophy is a late consequence of the syndrome. We describe the radiological features of a case of pseudotumoural hemicerebellitis with emphasis on MRI and spectroscopy findings as non-invasive diagnostic tools to avoid unnecessary surgical procedures.

Listerial Rhombencephalitis MR Findings. A Case Report.

We describe a case of listerial rhombencephalitis in a previously healthy 37-year-old woman. The diagnosis was based on the clinical findings, results of cerebrospinal fluid analysis, blood culture and MR imaging. The specific treatment was started after culture results were available, and the patient made a full clinical recovery.

Percutaneous sclerotherapy for lymphangioma and soft-tissue venous malformation located in the maxillofacial region in children and young adults.

To demonstrate that percutaneous sclerotherapy for lymphangioma using a new fibrosing agent (OK-432) and for soft-tissue venous malformation with alcoholization can improve management of these congenital vascular abnormalities. Between February 2003 and November 2005 five patients with lymphangioma, ranging in age from 23 months to 18 years (mean age = 9 years) and four patients with soft-tissue venous malformation, raging in age from 25 months to 18 years (mean age = 11 years) underwent percutaneous sclerotherapy. Ultrasound Computed tomography and/or Magnetic Resonance imaging were performed beforehand to evaluate the anatomic boundaries of the malformation. General anesthesia is mandatory for children under three years. Direct puncture of the mass with a 23-gauge venous infusion set (butterfly) was performed by means of palpation alone or with ultrasonographic guidance using OK-432 PICIBANIL (0.1-0.2 mg dilute in 10 ml normal saline) for lymphangioma and alcohol in venous malformation. The volume of sclerosing solution varied from 0.2 to 15 ml per injection course. Processing time was less than 20 minutes. Swelling of lesion, pain, local inflammatory reactions and mild fever (37.5°-39°) in lymphangioma, were constant findings after sclerotherapy. Satisfactory results (when the regression was estimated to be more than 50% of the initial volume; negative in inspection, but positive in palpation and imaging study) were obtained in four patients with head and neck lymphangioma. One patient was completely cured with an excellent (when there was a complete regression of malformations; negative in inspection, palpation and imaging study) result. All patients with soft-tissue venous malformation were satisfied with the results. In conclusion, in consideration of its low cost, rare complications and good results, we strongly recommend percutaneous sclerotherapy in the treatment of head and neck lymphangioma and soft-tissue venous malformation in children.

High resolution CT (HRCT) of the lung in adults. Defining the limits between normal and pathologic findings.

Under normal conditions, HRCT shows secondary lobule structures and allows for a precise evaluation, with inspiratory and expiratory scans, of central airways dimensions, lung area and parenchymal density. Frequently, asymptomatic smokers with normal lung function tests, present with mild abnormalities not visible at chest X-ray: bronchial thickening, bronchiolectasis, respiratory bronchiolitis and centrilobular or paraseptal emphysema. In the elderly, HRCT studies often show borderline findings such as age-related tracheo-bronchial calcifications and emphasise the progressive increase in the bronchoarterial ratio. Another frequent finding is expiratory air trapping, which can be associated with a variety of lung diseases, but can also represent a physiologic and temporary finding, during an episode of sub-clinical bronchospasm or related to local variation of bronchiolar dynamic compliance. The knowledge of the boundaries between normality and pathology is an essential prerequisite for the correct interpretation HRCT findings.

Differential diagnosis between usual interstitial pneumonia (UIP) and nonspecific interstitial pneumonia (NSIP) assessed by high-resolution computed tomography (HRCT).

PURPOSE: The aim of this study was to assess the accuracy of high-resolution CT in the differential diagnosis between UIP and NSIP, and the correlations with histological and functional findings. MATERIALS AND METHODS: Patients underwent thin-collimation spiral CT (1 mm), with 10-mm interval. Pulmonary function was assessed with a pneumotacograph and body plethysmograph connected with a computer for data analysis. Three pathologists, blinded to the clinical and functional data, provided a histological diagnosis based on established criteria reported in the literature. The study group only included patients with a histological diagnosis of either UIP or NSIP. RESULTS: We achieved a correct diagnosis of NSIP in 86.6% of cases (76.4% sensitivity; 84.6% specificity), whereas UIP was correctly diagnosed in 73.3% of cases (84.6% sensitivity; 76.5% specificity). An 80% agreement was achieved between the HRCT and histological findings in the whole case series (73% sensitivity, 87% specificity, p<0.01). CONCLUSIONS: The most important finding of our study was that a ground glass appearance equal to or greater than 15% is highly suggestive of NSIP. Therefore, our results could be useful to confirm a suggested diagnosis of NSIP.

Early smoking-induced lung lesions in asymptomatic subjects. Correlations between high resolution dynamic CT and pulmonary function testing.

PURPOSE: To evaluate the prevalence and significance of the pathological effects of cigarette smoking on the lung and the sensitivity of high-resolution CT (HRCT) in the recognition of early smoking-induced lesions in asymptomatic former or current smokers. MATERIALS AND METHODS: We performed a prospective and consecutive analysis of 36 volunteers (16 males, 20 females), 10 non-smokers (3 males; 7 females) and 26 smokers (13 males; 13 females / 17 current smokers; 9 former smokers), all asymptomatic and with normal respiratory flows. These subjects underwent lung function testing and HRCT, after providing written informed consent for the study. The HRCT scans were obtained at three pre-selected levels (aortic arch, tracheal carina and venous hilum). The same scans were obtained in post-expiration phase. At the level of the apical segmental bronchus of the right upper lobe, we measured on the monitor wall thickening, and the total and internal diameters using the techniques reported in literature. Each study was independently evaluated by two radiologists that were blinded to all clinical and functional data; they also evaluated the presence, prevalence and type of emphysema, areas of patchy hyperlucency and oligoemia in the inspiration phase and areas of expiratory air trapping. The extension was evaluated with the visual score method. The data obtained were analysed with the Windows SPSS package for statistical analysis. RESULTS: The two groups (non smokers and smokers) showed significant differences in some functional tests such as FEV1 (p<0.005) and Tiffeneau index (p<0.005), which were lower in current-smokers or former-smokers, although still within the normal range. The HRCT study did not show areas of emphysema or air trapping in non smokers. In the smokers' group, air trapping was observed in 30.7% of cases: 33.3% former-smokers and 29.4% current smokers (mean extension was 21.36% in former smokers and 9.48% in current smokers). Mean extension in the smokers' group was 13.94%. Pulmonary emphysema was found in 34.6% of cases in the smokers' group: 33.3% former-smokers and 35.2% current-smokers. Emphysema was prevalent in the upper lobes (88.8%). Mean extension was 8.76% in the former smokers group and 18.81% in current-smokers, with a total mean extension of 15.47% in the smokers' group. Statistically, there was a significant difference between non-smokers and smokers as regards emphysema extension and expiratory air trapping (p=0.034 and p=0.050, respectively). The smokers' group had a significantly wider diameter of the apical segmental bronchus of the right upper lobe than the controls. There was no significant statistical correlation between this dilatation and the emphysema score (r=0.051; p=0.81). The entity of smoking history did not correlate with emphysema extension or air trapping or with the size of the apical segmental bronchus of the right upper lobe. CONCLUSIONS: Our study demonstrates that HRCT is more sensitive and specific than commonly-used functional tests for the evaluation of initial emphysema in asymptomatic smokers. We observed expiratory air trapping only in the smokers' group, and only of the lobular type, without evidence of disease in inspiratory scans. Among the smokers and former-smokers, air trapping was found in 30.7% of subjects, with a mean extension lower than 10%. Our results therefore suggest that, even in asymptomatic subjects, expiratory air trapping is probably pathological and, once bronchial asthma has been excluded, it may be related to cigarette smoking and indicate early inflammatory bronchiolar damage. HRCT may therefore be regarded as a useful tool in the early diagnosis of smoking-related lung disease.