Loss of tissue-type plasminogen activator causes multiple developmental anomalies.

Hydrocephalus and Dandy-Walker malformation are amongst the most common congenital brain anomalies. We identified three consanguineous families with both obstructive hydrocephalus and Dandy-Walker malformation. To understand the molecular basis of these anomalies, we conducted genome-wide sequencing in these families.

Development of a semi-automatic segmentation technique based on mean magnetic resonance imaging intensity thresholding for volumetric quantification of plexiform neurofibromas.

Rationale And Objectives: Plexiform neurofibromas (PNs) are peripheral nerve tumors that occur in 25-50 % of patients with neurofibromatosis type 1. PNs may have complex, diffused, and irregular shapes. The objective of this work was to develop a volumetric quantification method for PNs as clinical assessment is currently based on unidimensional measurement.

Opioid analgesia and temperature regulation are associated with EEG background activity and MRI outcomes in neonates with mild-to-moderate hypoxic-ischemic encephalopathy undergoing therapeutic hypothermia.

Background: Therapeutic hypothermia (TH) without sedation may lead to discomfort, which may be associated with adverse consequences in neonates with hypoxic-ischemic encephalopathy (HIE). The aim of this study was to assess the association between level of exposure to opioids and temperature, with electroencephalography (EEG) background activity post-TH and magnetic resonance imaging (MRI) brain injury in neonates with HIE.

Methods: Thirty-one neonates with mild-to-moderate HIE who underwent TH were identified.

Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.

Objective: To report an adolescent with infantile-onset carnitine palmitoyltransferase 2 (CPT2) deficiency and cerebral malformations and to review the occurrence of brain malformations in CPT2 deficiency. The patient presented clinically at age 5 months with dehydration and hepatomegaly. He also has an unrelated condition, X-linked nephrogenic diabetes insipidus.

A phase 2 study of trametinib for patients with pediatric glioma or plexiform neurofibroma with refractory tumor and activation of the MAPK/ERK pathway: TRAM-01.

Background: Pediatric low-grade gliomas (PLGG) are the most frequent brain tumors in children. Up to 50% will be refractory to conventional chemotherapy. It is now known that the majority of PLGG have activation of the MAPK/ERK pathway.

18F-Flurodeoxyglucose positron emission tomography with computed tomography (FDG PET/CT) findings in children with encephalitis and comparison to conventional imaging.

Purpose: FDG PET/CT is emerging as a new tool for the evaluation of acute encephalitis (AE). However, to date, there are no exclusively pediatric studies on the use of FDG PET for suspected AE. The objective of this study was to compare qualitative and quantitative brain PET to conventional brain imaging in a cohort of children, and to identify patterns of metabolic abnormalities characteristic of AE.

Intracranial hypertension following sacrifice of occipital and marginal sinuses during posterior fossa decompression for Chiari I malformation: case report.

The occipital and marginal sinuses, when present, must be sacrificed in order to open the dura in most posterior fossa surgeries in the pediatric population, including posterior fossa decompression for Type I Chiari malformation (CM-I) with duraplasty. Apart from the immediate risk of hemorrhage, the voluntary occlusion of this structure is almost universally well tolerated. The authors report a case of intracranial hypertension following the sacrifice of occipital and marginal sinuses following posterior fossa decompression with duraplasty for CM-I.

Dissecting spontaneous cerebrospinal fluid collection.

Hydrocephalus is a common condition in the pediatric population known to have many causes and presentation patterns. We report from the analysis of 2 cases the existence of a new complication of pediatric hydrocephalus. Naming this entity "dissecting intraparenchymal cerebrospinal fluid collection", we advance a hypothesis regarding its pathophysiology and discuss its clinical implications and management.

Imaging of Acquired Demyelinating Syndrome With 18F-FDG PET/CT.

Acquired demyelinating syndromes include acute disseminated encephalomyelitis, transverse myelitis and may progress to multiple sclerosis (MS). Acute disseminated encephalomyelitis is characterized by impairment of level of consciousness and multifocal neurological deficits and transverse myelitis by back pain, weakness and sphincter dysfunction. Only a few cases of acquired demyelinating syndrome have been imaged with F-FDG PET/CT.

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.

Mitochondrial protein synthesis is initiated by formylated tRNA-methionine, which requires the activity of MTFMT, a methionyl-tRNA formyltransferase. Mutations in MTFMT have been associated with Leigh syndrome, early-onset mitochondrial leukoencephalopathy, microcephaly, ataxia, and cardiomyopathy. We identified compound heterozygous MTFMT mutations in a patient with a mild neurological phenotype and late-onset progressive visual impairment.

A Phase II feasibility study of oral etoposide given concurrently with radiotherapy followed by dose intensive adjuvant chemotherapy for children with newly diagnosed high-risk medulloblastoma (protocol POG 9631): A report from the Children's Oncology Group.

Background: Children with high-risk medulloblastoma historically have had a poor prognosis. The Children's Oncology Group completed a Phase II study using oral etoposide given with radiotherapy followed by intensive chemotherapy.

Procedure: Patients enrolled in the study had high-risk disease defined as ≥1.

Predictive Factors for Epilepsy in Pediatric Patients With Sturge-Weber Syndrome.

Background: Sturge-Weber syndrome is characterized by a facial port-wine stain associated with either or both a retinal angioma and a cerebral pial angioma. Because a pial angioma may not be evident on the initial imaging studies, individuals at risk for epilepsy are often not identified before their first seizure. The aim of this study is to identify predictive factors predisposing Sturge-Weber patients to epilepsy.

Significant motor improvement in an infant with congenital heart disease and a rolandic stroke: The impact of early intervention.

Objective: To report the impact of early motor intervention in an infant with congenital heart disease (CHD) and a stroke.

Methods And Results: A 35-week newborn with a complex CHD and a normal MRI presented with early motor developmental delay at 2 months. She began an intervention program, which included biweekly motor developmental therapy with a physiotherapist, parental education, and daily home exercises.

Rewarming affects EEG background in term newborns with hypoxic-ischemic encephalopathy undergoing therapeutic hypothermia.

Objective: To investigate how rewarming impacts the evolution of EEG background in neonates with hypoxic-ischemic encephalopathy (HIE) undergoing therapeutic hypothermia (TH).

Methods: We recruited a retrospective cohort of 15 consecutive newborns with moderate (9) and severe (6) HIE monitored with a continuous EEG during TH and at least 12h after its end. EEG background was analyzed using conventional visual and quantitative EEG analysis methods including EEG discontinuity, absolute and relative spectral magnitudes.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. JBTS is a genetically heterogeneous ciliopathy. We sought to characterize the genetic landscape associated with JBTS in the French Canadian (FC) population.

Derivation and validation of a clinical decision rule to identify young children with skull fracture following isolated head trauma.

Background: There is no clear consensus regarding radiologic evaluation of head trauma in young children without traumatic brain injury. We conducted a study to develop and validate a clinical decision rule to identify skull fracture in young children with head trauma and no immediate need for head tomography.

Methods: We performed a prospective cohort study in 3 tertiary care emergency departments in the province of Quebec.

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Epileptic encephalopathies are increasingly thought to be of genetic origin, although the exact etiology remains uncertain in many cases. We describe here three girls from two nonconsanguineous families affected by a clinical entity characterized by dysmorphic features, early-onset intractable epilepsy, intellectual disability, and cortical blindness. In individuals from each family, brain imaging also showed specific changes, including an abnormally marked pontobulbar sulcus and abnormal signals (T2 hyperintensities) and atrophy in the occipital lobe.

Surveillance imaging in children with malignant CNS tumors: low yield of spine MRI.

Magnetic resonance imaging (MRI) is routinely obtained in patients with central nervous system (CNS) tumors, but few studies have been conducted to evaluate this practice. We assessed the benefits of surveillance MRI and more specifically spine MRI in a contemporary cohort. We evaluated MRI results of children diagnosed with CNS tumors from January 2000 to December 2011.

Four-film X-ray series is more sensitive than 2-film for diagnosis of skull fractures in children.

Objective: The objective of this study was to compare the sensitivity and specificity of 2- and 4-film x-ray series when interpreted by pediatric emergency medicine physicians in the diagnosis of skull fracture in children.

Methods: A noninferiority crossover study was performed. The skull radiographs of the 50 most recent cases of skull fracture for which a 4-film radiography series was available and 50 controls matched for age were reviewed.