Feasibility and Safety of Sildenafil to Repair Brain Injury Secondary to Birth Asphyxia (SANE-01): A Randomized, Double-blind, Placebo-controlled Phase Ib Clinical Trial.

OBJECTIVE: To test feasibility and safety of administering sildenafil in neonates with neonatal encephalopathy (NE), developing brain injury despite therapeutic hypothermia (TH). STUDY DESIGN: We performed a randomized, double-blind, placebo-controlled phase Ib clinical trial between 2016 and 2019 in neonates with moderate or severe NE, displaying brain injury on day-2 magnetic resonance imaging (MRI) despite TH. Neonates were randomized (2:1) to 7-day sildenafil or placebo (2 mg/kg/dose enterally every 12 hours, 14 doses). Outcomes included feasibility and safety (primary outcomes), pharmacokinetics (secondary), and day-30 neuroimaging and 18-month neurodevelopment assessments (exploratory). RESULTS: Of the 24 enrolled neonates, 8 were randomized to sildenafil and 3 to placebo. A mild decrease in blood pressure was reported in 2 of the 8 neonates after initial dose, but not with subsequent doses. Sildenafil plasma steady-state concentration was rapidly reached, but decreased after TH discontinuation. Twelve percent of neonates (1/8) neonates died in the sildenafil group and 0% (0/3) in the placebo group. Among surviving neonates, partial recovery of injury, fewer cystic lesions, and less brain volume loss on day-30 magnetic resonance imaging were noted in 71% (5/7) of the sildenafil group and in 0% (0/3) of the placebo group. The rate of death or survival to 18 months with severe neurodevelopmental impairment was 57% (4/7) in the sildenafil group and 100% (3/3) in the placebo group. CONCLUSIONS: Sildenafil was safe and well-absorbed in neonates with NE treated with TH. Optimal dosing needs to be established. Evaluation of a larger number of neonates through subsequent phases II and III trials is required to establish efficacy. CLINICAL TRIAL REGISTRATION: ClinicalTrials.govNCT02812433.

Altered myelination in youth born with congenital heart disease.

Brain injury and dysmaturation is common in fetuses and neonates with congenital heart disease (CHD) and is hypothesized to result in persistent myelination deficits. This study aimed to quantify and compare myelin content in vivo between youth born with CHD and healthy controls. Youth aged 16 to 24 years born with CHD and healthy age- and sex-matched controls underwent brain magnetic resonance imaging including multicomponent driven equilibrium single pulse observation of T1 and T2 (mcDESPOT). Average myelin water fraction (MWF) values for 33 white matter tracts, as well as a summary measure of average white matter MWF, the White Matter Myelination Index, were calculated and compared between groups. Tract-average MWF was lower throughout the corpus callosum and in many bilateral association tracts and left hemispheric projection tracts in youth with CHD (N = 44) as compared to controls (N = 45). The White Matter Myelination Index was also lower in the CHD group. As such, this study provides specific evidence of widespread myelination deficits in youth with CHD, likely representing a long-lasting consequence of early-life brain dysmaturation in this population. This deficient myelination may underlie the frequent neurodevelopmental impairments experienced by CHD survivors and could eventually serve as a biomarker of neuropsychological function.

The spectrum of indomethacin-responsive headaches in children and adolescents.

BACKGROUND: Headaches with marked, specific response to indomethacin occur in children, but the phenotypic spectrum of this phenomenon has not been well-studied. METHODS: We reviewed pediatric patients with headache showing ≥80% improvement with indomethacin, from seven academic medical centers. RESULTS: We included 32 pediatric patients (16 females). Mean headache onset age was 10.9 y (range 2-16 y). Headache syndromes included hemicrania continua (n = 13), paroxysmal hemicrania (n = 10), primary stabbing headache (n = 2), short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (n = 1), primary exercise headache (n = 1) and primary cough headache (n = 1). Adverse events were reported in 13, most commonly gastrointestinal symptoms, which often improved with co-administration of gastro-protective agents. CONCLUSION: Indomethacin-responsive headaches occur in children and adolescents, and include headache syndromes, such as primary cough headache, previously thought to present only in adulthood. The incidence of adverse events is high, and patients must be co-treated with a gastroprotective agent.

Bilateral Parietal Skull Fractures in Infants Attributable to Accidental Falls.

INTRODUCTION: Multiple skull fractures, including bilateral parietal skull fractures (BPSFs) in infants are considered to be suspicious for abusive head trauma (AHT). The aim of this report is to describe a series of BPSF cases in infants which occurred due to accidental falls. METHODS: We searched our neuroradiology database for BPSF in infants (<1 year old) diagnosed between 2006 and 2019; we reviewed initial presentation, mechanisms of injury, clinical course, head imaging, skeletal survey X-rays, ophthalmology, social work and child abuse physicians (CAP) assessments, and long-term follow-up. "Confirmed accidental BPSF" were strictly defined as having negative skeletal survey and ophthalmology evaluation and a CAP conclusion of accidental injury. RESULTS: Twelve cases of BPSF were found; 3 were confirmed to be accidental, with a mean age at presentation of 3 months. Two infants had single-impact falls, and 1 had a compression injury; all 3 had small intracranial hemorrhages. None had bruises or other injuries, and all remained clinically well. A literature search found 10 similar cases and further biomechanical evidence that these fractures can occur from accidental falls. CONCLUSION: While AHT should be kept in the differential diagnosis whenever BPSFs are seen, these injuries can occur as a result of accidental falls.

Hirayama Disease in a Patient with a History of Late-Onset Symptomatic Vein of Galen Aneurysmal Malformation.

INTRODUCTION: The purpose of this report is to present a rare case of Hirayama disease (HD) in a patient with a history of late-onset symptomatic vein of Galen aneurysmal malformation (VGAM). This report may provide new insights into the pathophysiology of HD, a rare disorder consisting of insidious onset of unilateral weakness and atrophy of the forearm and intrinsic hand muscles. These symptoms are believed to result from cervical myelopathy affecting the anterior horn cells due to abnormal compressive forces on the spinal cord from adjacent anatomical structures (i.e., dura and/or epidural veins), but this has not been proven. VGAM is a rare congenital cerebral vascular malformation, consisting of high-flow arteriovenous shunting between a persistent median prosencephalic vein and arterial feeders, which most frequently presents in the early neonatal period with congestive heart failure. CASE PRESENTATION: We report the case of an otherwise healthy boy who presented with heart failure due to VGAM at 7 years and subsequently presented at 14 years with left-sided HD. His cervical MRI with neck flexion revealed enlarged epidural veins at the C5-C6 spinal level with anterior, leftward displacement of the posterior dura and spinal cord as well as left hemicord flattening and/or atrophy at this level. He underwent successful surgical treatment by C5-C6-C7 osteoplastic laminotomies and tenting and expansile autologous duraplasty, during which enlarged, engorged epidural veins were confirmed and coagulated. This halted the progression of his left hand weakness and atrophy and allowed significant functional improvement. Postoperative catheter angiogram showed no anatomical connection between the persistent VGAM and the engorged epidural veins, and genetic testing revealed no genetic predisposition of vascular malformations. DISCUSSION/CONCLUSION: In this patient, a combined surgical technique was performed that included epidural venous plexus coagulation with posterior autologous duraplasty and dural fixation using tenting sutures. This combined approach led to a favorable clinical and radiographic outcome with no complications or limitations and has not been previously proposed in the literature, to our knowledge. Although not completely ruled out, we found no angiographic connection or genetic predisposition to suggest there is a pathophysiological link between HD and VGAM.

MNI SISCOM: an Open-Source Tool for Computing Subtraction Ictal Single-Photon Emission CT Coregistered to MRI.

Subtraction ictal single-photon emission computed tomography (SPECT) coregistered to MRI (SISCOM) is a well-established technique for quantitative analysis of ictal vs interictal SPECT images that can contribute to the identification of the seizure onset zone in patients with drug-resistant epilepsy. However, there is presently a lack of user-friendly free and open-source software to compute SISCOM results from raw SPECT and MRI images. We aimed to develop a simple graphical desktop application for computing SISCOM. MNI SISCOM is a new free and open-source software application for computing SISCOM and producing practical MRI/SPECT/SISCOM image panels for review and reporting. The graphical interface allows any user to quickly and easily obtain SISCOM images with minimal user interaction. Additionally, MNI SISCOM provides command line and Python interfaces for users who would like to integrate these features into their own scripts and pipelines. MNI SISCOM is freely available for download from: https://github.com/jeremymoreau/mnisiscom .

Quantification of apparent axon density and orientation dispersion in the white matter of youth born with congenital heart disease.

BACKGROUND: White matter alterations have previously been demonstrated in adolescents born with congenital heart disease (CHD) using diffusion tensor imaging (DTI). However, due to the non-specific nature of DTI metrics, it is difficult to interpret these findings in terms of their microstructural implications. This study investigated the use of neurite orientation dispersion and density imaging (NODDI), which involves the acquisition of advanced multiple b-value data over two shells and provides proxy measures of apparent axon density and orientation dispersion within white matter, as a complement to classic DTI measures. STUDY DESIGN: Youth aged 16 to 24 years born with complex CHD and healthy peers underwent brain magnetic resonance imaging. White matter tract volumes and tract-average values of DTI and NODDI metrics were compared between groups. Tract-average DTI and NODDI results were spatially confirmed using tract-based spatial statistics. RESULTS: There were widespread regions of lower tract-average neurite density index (NDI) in the CHD group as compared to the control group, particularly within long association tracts and in regions of the corpus callosum, accompanied by smaller white matter tract volumes and isolated clusters of lower fractional anisotropy (FA). There were no significant differences in orientation dispersion index (ODI) between groups. CONCLUSION: Lower apparent density of axonal packing, but not altered axonal orientation, is a key microstructural factor in the white matter abnormalities observed in youth born with CHD. These impairments in axonal packing may be an enduring consequence of early life brain injury and dysmaturation and may explain some of the long-term neuropsychological difficulties experienced by this at-risk group.

Eight-Year Experience With 3-T Intraoperative MRI Integration in Focal Pediatric Epilepsy Surgery: Impact on Extent of Resection, Residual Volumes, and Seizure Outcomes.

OBJECTIVE. The purpose of this study was to investigate the influence of 3-T intraoperative MRI (ioMRI) on the extent of resection of pediatric focal epileptogenic lesions, residual lesion volumes, and postoperative seizure outcomes. MATERIALS AND METHODS. All surgical procedures for focal epilepsy from 2003 to 2017 were retrospectively reviewed. Patients were divided into two groups: those who underwent ioMRI and those who did not. Each group was subdivided into two subcategories according to preoperative MRI visualization of the lesion: those with well-defined and those with poorly defined lesions. The volumes of preoperative lesions and postoperative residual lesions were delineated. Outcome data and patient characteristics were reviewed. The results were compared between the two groups and the two subcategories. RESULTS. Eighty patients were included: 45 in the ioMRI group (24 with well-defined lesions, 21 with poorly defined lesions) and 35 in the non-ioMRI group (18 with well-defined lesions, 17 with poorly defined lesions). The well-defined lesions included tumors and vascular lesions. The poorly defined lesions included malformations of cortical development, hippocampal sclerosis, and tuberous sclerosis. The mean follow-up duration was 5.1 ± 3.3 years. The rate of gross total resection was not significantly different between the ioMRI and non-ioMRI groups (p = 0.46). However, ioMRI findings facilitated further resection during surgery, increasing gross total resection by an additional 11.1%. The ioMRI group had a significant reduction in percentage of residual volume (p < 0.001). Outcome data suggested that ioMRI is protective against poor Engel score (p = 0.048). Although ioMRI prolonged the mean operative time by 1.2 hours (p = 0.002), the additional time was not associated with additional complications. CONCLUSION. Integration of ioMRI into focal epilepsy surgery was associated with smaller residual lesions and was protective against poor Engel score. It prolonged the operative time but without increasing the number of complications.

A new imaging entity consistent with partial ectopic posterior pituitary gland: report of six cases.

BACKGROUND: Abnormal posterior pituitary development including ectopic location has been associated with endocrine manifestations of anterior pituitary dysfunction. OBJECTIVE: We describe an unreported clinical and radiologic entity we call partial ectopic posterior pituitary for which associated endocrine consequences are not known. MATERIALS AND METHODS: We selected pediatric head MRI examinations from 2005 to 2017 based on the finding of a double midline sellar and suprasellar bright spot on T1-weighted sequence. Medical history, physical examination, pituitary hormonal profile and bone age evaluation were extracted from the medical record of the selected patients. An experienced pediatric neuroradiologist reviewed head MRIs, which were performed on 3-tesla (T) magnet and included at least sagittal T1-weighted imaging centered on the sella turcica obtained with and without fat suppression. RESULTS: In six cases, two midline bright spots were identified on T1-weighted sequences obtained both with and without fat suppression. While one spot was located at the expected site of the neurohypophysis in the posterior sella, the second one was in the region of the median eminence, suggesting partial ectopic posterior pituitary gland. Growth hormone deficiency, either isolated (n=1) or combined with thyroid stimulating hormone deficiency (n=1) was found. None of the children had clinical signs of posterior pituitary dysfunction. CONCLUSION: We describe an unreported imaging entity suggesting partial ectopic posterior pituitary gland in six children. Anterior pituitary hormone deficiencies might be detected in those children and long-term follow-up could provide additional information on the development of other pituitary hormone deficiencies.

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex which catalyzes the ligation of amino acids to the correct tRNAs. Pathogenic variants in several aminoacyl-tRNA synthetases genes have been linked to various neurological disorders, including leukodystrophies and pontocerebellar hypoplasias (PCH). To date, loss-of-function variants in AIMP1 have been associated with hypomyelinating leukodystrophy-3 (MIM 260600). Here, we report a novel frameshift AIMP1 homozygous variant (c.160delA,p.Lys54Asnfs) in a child with pontocerebellar hypoplasia and simplified gyral pattern, a phenotype not been previously described with AIMP1 variants, thus expanding the phenotypic spectrum. AIMP1 should be included in diagnostic PCH gene panels.

Hippocampal alterations and functional correlates in adolescents and young adults with congenital heart disease.

There is a high prevalence of neurodevelopmental impairments in individuals living with congenital heart disease (CHD) and the neural correlates of these impairments are not yet fully understood. Recent studies have shown that hippocampal volume and shape differences may provide unique biomarkers for neurodevelopmental disorders. The hippocampus is vulnerable to early life injury, especially in populations at risk for hypoxemia or hemodynamic instability such as in neonates with CHD. We compared hippocampal gray and white matter volume and morphometry between youth born with CHD (n = 50) aged 16-24 years and healthy peers (n = 48). We also explored whether hippocampal gray and white matter volume and morphometry are associated with executive function and self-regulation deficits. To do so, participants underwent 3T brain magnetic resonance imaging and completed the self-reported Behavior Rating Inventory of Executive Function-Adult version. We found that youth with CHD had smaller hippocampal volumes (all statistics corrected for false discovery rate; q < 0.05) as compared to controls. We also observed significant smaller surface area bilaterally and inward displacement on the left hippocampus predominantly on the ventral side (q < 0.10) in the CHD group that were not present in the controls. Left CA1 and CA2/3 were negatively associated with working memory (p < .05). Here, we report, for the first-time, hippocampal morphometric alterations in youth born with CHD when compared to healthy peers, as well as, structure-function relationships between hippocampal volumes and executive function. These differences may reflect long lasting alterations in brain development specific to individual with CHD.

Maternally inherited MAF variant associated with variable expression of Aymé-Gripp syndrome.

Aymé-Gripp syndrome is an intellectual disability syndrome characterized by autism spectrum disorder, cataracts, sensorineural hearing loss, skeletal involvement, seizures, cardiac anomalies, and distinctive facial features. The condition is caused by pathogenic variants in MAF. To date, less than 20 cases have been reported, the majority having de novo mutations. Here, we report a patient with classical features of Aymé-Gripp syndrome who inherited a MAF variant, c.206C>G (p.P69R), from a mother with normal intellectual function and normal hearing but with cataract and significant proteinuria. To the best of our knowledge, this is the first report of a patient who inherited a MAF causative variant from a parent with normal intellect. Although the syndrome typically has multiple malformations and intellectual disability, we suggest that a mild phenotype could exist. In addition, we suggest that the basal ganglia calcifications present in our proband could be a novel finding associated with MAF variants and offer further support for the relationship between these variants and late manifestations of renal disease.

Correction to: Efficacy of Dabrafenib for three children with brainstem BRAFV600E positive ganglioglioma.

In the original article, the author names were published incorrectly. The names are correct in this publication.

Developmental outcomes in children with congenital cerebellar malformations.

AIM: Neurodevelopmental outcomes in children with congenital cerebellar malformations (CCMs) remain poorly defined. We aimed to assess whether specific neuroimaging features in CCM patients correlate with neurodevelopmental outcomes. METHOD: Hospital records and neuroimaging of 67 children with CCMs were systematically reviewed. Logistic regression analyses were used to assess associations between specific imaging features and neurodevelopmental outcomes. RESULTS: CCM categories were distributed as follows: 28 percent isolated vermis hypoplasia (n=19), 28 percent global cerebellar hypoplasia (n=19), 15 percent Dandy-Walker malformation (n=10), 13 percent pontocerebellar hypoplasia (PCH, n=9), 9 percent molar tooth malformation (n=6), 3 percent rhombencephalosynapsis (n=2), and 3 percent unilateral cerebellar malformation (n=2). Overall, 85 percent (55/65) of the cohort had global developmental delay (GDD). Intellectual disability was present in 61 percent (27/43) and autism spectrum disorder (ASD) in 12 percent (6/52). Adjusting for supratentorial malformations and presence of genetic findings, severe GDD was associated with cerebellar hypoplasia (p=0.049) and PCH (p=0.030), whereas children with vermis hypoplasia were less likely to have severe GDD (p=0.003). Presence of supratentorial abnormalities was not significantly associated with worse neurodevelopmental outcome but was associated with epilepsy. INTERPRETATION: Children with CCMs have high prevalence of neurodevelopmental deficits. Specific features on imaging can aid prognostication and establish early intervention strategies. WHAT THIS PAPER ADDS: Atypical long-term neurodevelopmental outcome is very common in patients with congenital cerebellar malformations (CCMs). Involvement of the brainstem and cerebellar hemispheres predicts more severe neurodevelopmental disability. Most patients with vermis hypoplasia have language delay but are verbal. Supratentorial abnormalities are not significantly associated with worse neurodevelopmental outcome but are associated with epilepsy. Comorbidities are common in CCMs, especially ophthalmological issues in cerebellar hypoplasia and sensorineural hearing loss in pontocerebellar hypoplasia.

Hyperacute Infarct on Intraoperative Diffusion Imaging of Pediatric Brain Tumor Surgery.

BACKGROUND: Brain neoplasms are the second-most prevalent cancer of childhood for which surgical resection remains the main treatment. Intraoperative MRI is a useful tool to optimize brain tumor resection. It is, however, not known whether intraoperative MRI can detect complications such as hyperacute ischemic infarcts. METHODS: A retrospective analysis of pre- and intraoperative MRIs including DWI sequence and correlation with early and 3-month postoperative MRIs was conducted to evaluate the incidence of hyperacute arterial infarct during pediatric brain tumor resection. Patient demographics, pathological type, tumor location, resection type as well as preoperative tumoral vessel encasement, evolution of the area of restricted diffusion were collected and analyzed comparatively between the group with acute infarct and the control group. Extent of the hyperacute infarct was compared to both early postsurgical and 3-month follow-up MRIs. RESULTS: Of the 115 cases, 13 (11%) developed a hyperacute arterial ischemic infarct during brain tumor resection. Tumoral encasement of vessels was more frequent in the infarct group (69%) compared to 25.5% in the control group. Four cases showed additional vessel irregularities on intraoperative MRI. On early follow-up, the infarcted brain area had further progressed in six cases and was stable in seven cases. No further progression was noted after the first week post-surgery. CONCLUSIONS: Hyperacute infarcts are not rare events to complicate pediatric brain tumor resection. Tumoral encasement of the circle of Willis vessels appears to be the main risk factor. Intraoperative DWI underestimates the final extent of infarcted tissue compared to early postsurgical MRI.

Présence d'infarctus ischémiques hyper-aigus révélés par des IRM peropératoires de diffusion dans le cas de chirurgies visant à traiter le cancer du cerveau chez l'enfant.Contexte: Chez l'enfant, les néoplasmes du cerveau viennent au second rang des cancers pour lesquels la résection chirurgicale demeure le principal traitement. L'IRM peropératoire est un outil efficace pour maximiser la résection d'une tumeur cérébrale. On ignore toutefois de quelle façon cet outil peut permettre de détecter des complications telles que les infarctus ischémiques hyper-aigus. Méthodes:Nous avons tout d'abord effectué une analyse rétrospective des IRM préopératoires et peropératoires, ce qui inclut des IRM de diffusion. Nous avons aussi cherché à établir des corrélations avec des IRM post-opératoires, certaines effectuées tout juste après une résection et d'autres après 3 mois, afin d'évaluer l'incidence d'infarctus ischémiques hyper-aigus survenant en cours de résection. Des données portant sur les caractéristiques des patients, sur la pathologie tumorale, sur l'emplacement des tumeurs, sur le type de résection ainsi que sur l'envahissement vasculaire tumoral préopératoire et sur l'évolution de la région de diffusion restreinte ont été collectées. Nous avons ensuite effectué une analyse comparative entre notre groupe de patients et un groupe de témoins. L'ampleur des infarctus ischémiques hyper-aigus a été comparée au moyen d'IRM réalisées tout juste après une résection et d'IRM de suivi après trois mois. Résultats:Sur un total de 115 cas, 13 (11 %) ont donné à voir un infarctus ischémique hyper-aigu au cours d'une résection. L'envahissement vasculaire tumoral était plus fréquent dans le groupe de jeunes patients ayant donné à voir un infarctus (69 %) comparativement à 25,5 % dans le groupe des témoins. Quatre cas ont aussi montré, lors d'IRM peropératoires, des irrégularités additionnelles en ce qui a trait aux vaisseaux sanguins. Lors de suivis effectués rapidement après une résection, les régions du cerveau affectées par un infarctus avaient continué à croître davantage chez 6 cas et étaient demeurées stables chez 7 autres cas. Aucune autre progression n'a été notée à la suite d'une IRM menée une semaine plus tard. Conclusions:Les infarctus ischémiques hyper-aigus ne sont pas des événements inhabituels. Comme on le sait, ils peuvent entraîner des complications au moment d'effectuer la résection d'une tumeur cérébrale chez l'enfant. L'envahissement vasculaire tumoral du polygone de Willis semble être ici le principal facteur de risque. Les IRM de diffusion peropératoires ont tendance à sous-estimer l'étendue finale des tissus affectés par un infarctus ischémique comparativement aux IRM effectuées tout juste après une résection.

Trametinib for progressive pediatric low-grade gliomas.

INTRODUCTION: Pediatric pilocytic astrocytomas (PAs) are low grade gliomas and the most common brain tumors in children. They often represent a therapeutic challenge when incompletely resected as they can recur and progress despite the use of several lines of chemotherapeutic agents or even radiation therapy. Genetic alterations leading to activation of the mitogen-activated-protein-kinase pathway are a hallmark of this disease and offer an interesting therapeutic alternative through the use of targeted inhibitors. METHODS: Here, we describe six children with sporadic PA who were treated with trametinib, a MEK inhibitor, following progression under conventional therapies. Retrospective chart review was performed. RESULTS: The median age at diagnosis was 2.3 years (y) old [range 11 months (m)-8.5 y old]. KIAA1549-BRAF fusion was identified in five cases, and hotspot FGFR1/NF1/PTPN11 mutations in one. All patients received at least one previous line of chemotherapy (range 1-4). The median time on treatment was 11 m (range 4-20). Overall, we observed two partial responses and three minor responses as best response; three of these patients are still on therapy. Treatment was discontinued in the patient with progressive disease. The most frequent toxicities were minor to moderately severe skin rash and gastro-intestinal symptoms. Two patients had dose reduction due to skin toxicity. Quality of life was excellent with decreased hospital visits and a close to normal life. CONCLUSION: Trametinib appears to be a suitable option for refractory pediatric low-grade glioma and warrants further investigations in case of progression.

Cervical instability in patients with Trisomy 21: The eternal gamble.

Patients with Trisomy 21 are particularly at risk of cervical instability due to ligamentous laxity and osseous abnormalities. Up to 30% of Trisomy 21 patients are affected by atlanto-axial or atlanto-occipital instability, but only 1%-2% of cases are symptomatic. The radiologic assessment of cervical instability is not unanimously considered mandatory. The dynamic cervical spine radiograph is the most common screening tool for ruling out cervical spine instability in patients with Trisomy 21, and it is often requested before surgery. Several measurements have been investigated to assess the presence and degree of cervical instability; however, no conclusive recommendations have been forthcoming. In daily practice, many anesthesiologists may provide anesthesia via such means as laryngoscopy and tracheal intubation during surgery, without any radiological investigations before surgery. This review focuses on the diagnostic and prognostic measures available to evaluate the presence and degree of cervical instability in patients with Trisomy 21 and to propose practical recommendations to be applied in clinical practice.

Hypotension and Brain Injury in Asphyxiated Newborns Treated with Hypothermia.

OBJECTIVE: This study aimed to assess the incidence of hypotension in asphyxiated newborns treated with hypothermia, the variability in treatments for hypotension, and the impact of hypotension on the pattern of brain injury. STUDY DESIGN: We conducted a retrospective cohort study of asphyxiated newborns treated with hypothermia. Mean blood pressures, lactate levels, and inotropic support medications were recorded during the hospitalization. Presence and severity of brain injury were scored using the brain magnetic resonance imaging (MRI) obtained after the hypothermia treatment was completed. RESULTS: One hundred and ninety term asphyxiated newborns were treated with hypothermia. Eighty-one percent developed hypotension. Fifty-five percent of the newborns in the hypotensive group developed brain injury compared with 35% of the newborns in the normotensive group (p = 0.04). Twenty-nine percent of the newborns in the hypotensive group developed severe brain injury, compared with only 15% in the normotensive group. Nineteen percent of the newborns presenting with volume- and/or catecholamine-resistant hypotension had near-total injury, compared with 6% in the normotensive group and 8% in the group responding to volume and/or catecholamines. CONCLUSION: Hypotension was common in asphyxiated newborns treated with hypothermia and was associated with an increased risk of (severe) brain injury in these newborns.

Illness Severity Predicts Death and Brain Injury in Asphyxiated Newborns Treated with Hypothermia.

OBJECTIVE: To determine if illness severity during the first days of life predicts adverse outcome in asphyxiated newborns treated with hypothermia. STUDY DESIGN: We conducted a retrospective cohort study of asphyxiated newborns treated with hypothermia. Illness severity was calculated daily during the first 4 days of life using the Score for Neonatal Acute Physiology II (SNAP-II score). Adverse outcome (death and/or brain injury) was recorded. Differences in SNAP-II scores between the newborns with and without adverse outcome were assessed. RESULT: 214 newborns were treated with hypothermia. The average SNAP-II score over the first 4 days of life was significantly worse in newborns developing adverse outcome. The average SNAP-II score was an excellent predictor of death (area under the curve [AUC]: 0.93; p < 0.001) and a fair predictor of adverse outcome (AUC: 0.73; p < 0.001). The average SNAP-II score remained a significant predictor of adverse outcome (odds ratio [95% confidence interval]: 1.08 [1.04-1.12]; p < 0.001), after adjusting for baseline characteristics, degree of initial asphyxial event, and initial severity of encephalopathy. CONCLUSION: In asphyxiated newborns treated with hypothermia, not only the initial asphyxial event but also the illness severity during the first days of life was a significant predictor of death or brain injury.

Magnetic Resonance Myelography in Congenital Absence of the Cervical Pedicle.

Absence of the cervical pedicle is a very rare congenital anomaly, easily misrecognized as a unilateral facet dislocation in a setting of acute trauma or a neoplastic process like a nerve sheath tumor. Although correct diagnosis can be achieved on the cervical radiograph and confirmed by the CT, MRI Myelography is clearly of additional value because shows the specific relationship and orientation of the nerve roots. To the best to our knowledge, this is the first description of MR Myelography findings.