Corneal absorption spectra in the deep UV range.

Significance: Refractive surgery in ophthalmology uses pulsed lasers at 193, 210, or 213 nm. The reason is that most molecular constituents of cornea absorb strongly in this wavelength range. Precise refractive surgery via ablation requires an accurate knowledge of the absorption coefficient at the relevant wavelengths.

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.

Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inactivation, to an early-onset neurological disease trait (EONDT) of severe developmental delay, intellectual disability, and behavioral abnormalities. Size and gene content of Xq22-PLP1-DEL vary and were proposed as potential molecular etiologies underlying variable expressivity in carrier females where two smallest regions of overlap (SROs) were suggested to influence disease. We ascertained a cohort of eight unrelated patients harboring Xq22-PLP1-DEL and performed high-density array comparative genomic hybridization and breakpoint-junction sequencing.

Expansion of the clinical spectrum associated with AARS2-related disorders.

Biallelic pathogenic variants in AARS2, a gene encoding the mitochondrial alanyl-tRNA synthetase, result in a spectrum of findings ranging from infantile cardiomyopathy to adult-onset progressive leukoencephalopathy. In this article, we present three unrelated individuals with novel compound heterozygous pathogenic AARS2 variants underlying diverse clinical presentations. Patient 1 is a 51-year-old man with adult-onset progressive cognitive, psychiatric, and motor decline and leukodystrophy.

Correlation Between White Matter Injury Identified by Neonatal Diffusion Tensor Imaging and Neurodevelopmental Outcomes Following Term Neonatal Asphyxia and Therapeutic Hypothermia: An Exploratory Pilot Study.

Aim: Hypoxic-ischemic encephalopathy is associated with damage to deep gray matter; however, white matter involvement has become recognized. This study explored differences between patients and clinical controls on diffusion tensor imaging, and relationships between diffusion tensor imaging and neurodevelopmental outcomes.

Method: Diffusion tensor imaging was obtained for 31 neonates after hypoxic-ischemic encephalopathy treated with therapeutic hypothermia and 10 clinical controls.

Characterization of the Basal Ganglia Using Diffusion Tensor Imaging in Children with Self-Injurious Behavior and Tuberous Sclerosis Complex.

Background And Purpose: Tuberous sclerosis complex (TSC) is a rare, genetic disease that is associated with multiple manifestations including epilepsy and autism. Self-injurious behaviors (SIBs) also occur in a subset of patients. This study used diffusion tensor imaging (DTI) in children with TSC for quantitative and volumetric analysis of brain regions that have been associated with SIB in other genetic conditions.

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

Introduction: PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features.

Methods: Observational clinical study in a cohort of infantile and childhood onset PLAN patients and genetic analysis of the PLA2G6 gene. We analysed chronological evolution in terms of age at onset and disease course through a 66-item questionnaire.

The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.

Objectives: To describe the spectrum of brainstem malformations associated to mutations in the tubulin genes taking advantage of magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI).

Methods: Fifteen patients (six males; median age, 1.25 years; range, 1 month to 31 years) with mutations in the tubulin genes (TUBA1A = 8, TUBB2B = 4, TUBB3 = 3) studied with MRI and DTI were included in the study.

Arrested Hydrocephalus in Childhood: Case Series and Review of the Literature.

Introduction: Hydrocephalus can be progressive or spontaneously arrested. In arrested hydrocephalus, the balance between production and absorption of the cerebrospinal fluid is restored. Patients are mostly asymptomatic, and no surgical treatment is necessary for them.

Persistent Extreme Hyperextension of the Fetal Neck: Clinical and Neuroimaging Findings.

Background And Purpose: Persistent hyperextension of the fetal craniocervical junction or neck is one of several fetal positions commonly observed on prenatal imaging. Underlying fetal structural etiologies such as fetal neck masses and iniencephaly can be detected as causes of hyperextension. Caesarean delivery is considered in cases of vaginal delivery or obstructed labor for fear of cervical spinal cord injury.

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

Neuronal ceroid lipofuscinoses represent a heterogeneous group of early onset neurodegenerative disorders that are characterized by progressive cognitive and motor function decline, visual loss, and epilepsy. The age of onset has been historically used for the phenotypic classification of this group of disorders, but their molecular genetic delineation has now enabled a better characterization, demonstrating significant genetic heterogeneity even among individuals with a similar phenotype. The rare Congenital Neuronal Ceroid Lipofuscinosis (CLN10) caused by mutations in the gene encoding for cathepsin D is associated with a dramatic presentation with onset before or around birth.

Radiological findings of abnormalities associated with congenital Zika virus infection: conclusions from World Radiology Day 2016.

In July 2015, Brazil reported an association between Zika virus infection and Guillain-Barre syndrome, and then in October 2015, between Zika and microcephaly. Most countries and territories in the Region of the Americas were later affected by the virus, creating a public health emergency. Each year, the Pan American Health Organization (PAHO), Regional Office of the World Health Organization commemorates World Radiology Day (WRD), which highlights the role of radiology in public health.

Implementing a Multidisciplinary Approach to Treating Tuberous Sclerosis Complex: A Case Report.

Objective: Tuberous sclerosis complex is expressed throughout the body, resulting in a range of clinical manifestations that can be challenging to manage.

Results: The authors report a patient who presented at age 3.5 years with several suspected seizures and was diagnosed with tuberous sclerosis complex following the discovery of numerous bilateral cortical tubers and subependymal nodules on magnetic resonance imaging.

Back pain and scoliosis in children: When to image, what to consider.

Back pain and scoliosis in children most commonly present as benign and self-limited entities. However, persistent back pain and/or progressive scoliosis should always be taken seriously in children. Dedicated diagnostic work-up should exclude etiologies that may result in significant morbidity.

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

Objective: To determine the neuroimaging pattern of cerebellar dysplasia (CD) and other posterior fossa morphological anomalies associated with mutations in tubulin genes and to perform clinical and genetic correlations.

Methods: Twenty-eight patients harbouring 23 heterozygous pathogenic variants (ten novel) in tubulin genes TUBA1A (n = 10), TUBB2B (n = 8) or TUBB3 (n = 5) were studied by a brain MRI scan performed either on a 1.5 T (n = 10) or 3 T (n = 18) MR scanner with focus on the posterior fossa.

Sensitivity of susceptibility-weighted imaging in detecting developmental venous anomalies and associated cavernomas and microhemorrhages in children.

Purpose: Developmental venous anomalies (DVA) are common neuroimaging abnormalities that are traditionally diagnosed by contrast-enhanced T1-weighted images as the gold standard. We aimed to evaluate the sensitivity of SWI in detecting DVA and associated cavernous malformations (CM) and microhemorrhages in children in order to determine if SWI may replace contrast-enhanced MRI sequences.

Methods: Contrast-enhanced T1-weighted images were used as diagnostic gold standard for DVA.

Blake's pouch cyst in children: Atypical clinical presentation.

Blake's pouch cyst is a posterior fossa cystic malformation characterized by a infracerebellar cyst, absence of communication between the fourth ventricle and the subarachnoid space, and tetraventricular hydrocephalus. Children with Blake's pouch cyst typically present with macrocephaly due to hydrocephalus during the neonatal period or infancy. Atypical presentation is, however, possible.

Novel Contrast-Enhanced Ultrasound Evaluation in Neonatal Hypoxic Ischemic Injury: Clinical Application and Future Directions.

Sensitive, specific, and safe bedside evaluation of brain perfusion is key to the early diagnosis, treatment, and improved survival of neonates with hypoxic ischemic injury. Contrast-enhanced ultrasound (US) imaging is a novel imaging technique in which intravenously injected gas-filled microbubbles generate enhanced US echoes from an acoustic impedance mismatch. This article describes contrast-enhanced US imaging in 2 neonates with hypoxic ischemic injury and future directions on developing quantitative contrast-enhanced US techniques for improved characterization of perfusion abnormalities.

ACCIDENTAL DUPLICATION: MR Imaging Findings in Children with Spasmus Nutans.

The Publisher regrets that this article is an accidental duplication of an article that has already been published, http://dx.doi.org/10.

Neuroimaging findings of postnatally acquired Zika virus infection: a pictorial essay.

Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family, first discovered in 1947. There has been no report of severe complications caused by this virus in humans until recently. However, it is confirmed now that prenatally acquired ZIKV infection may cause severe congenital brain abnormalities in the infected fetuses.