Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.

Tatton-Brown-Rahman syndrome (TBRS) or DNMT3A-overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic features, obesity, and behavioral problems. It is caused by variants of the DNMT3A gene. We report four patients with this syndrome due to de novo DNMT3A pathogenic variants, contributing to a deeper understanding of the genetic basis and pathophysiology of this autosomal dominant syndrome.

White-Matter Lesions and Cortical Cerebral Blood Flow Evaluation by 3D Arterial Spin-Labeled Perfusion MRI in Asymptomatic Divers: Correlation with Patent Foramen Ovale Ocurrence.

Cerebral white-matter lesions (cWML) can be caused by dilation of Virchow-Robin spaces or may correspond to true lacunar ischemic lesions. The aim of our study was to evaluate in asymptomatic divers the relationship between the presence of patent foramen ovale (PFO) and cWML, as well as their possible effects on cortical cerebral blood flow (CBF) by magnetic resonance (MRI) through the arterial spin labeling (ASL) sequence. Transthoracic echocardiography was performed for the identification of PFO, and cerebral magnetic resonance including the 3D-ASL sequence for CBF quantification.

Bi-Allelic c.1746G>T; p.Leu582= Variants in in a Boy with Autism: Clinical Data and Literature Review.

Bi-allelic mutations in the gene have been recently associated with autosomal recessive microcephaly with chorioretinopathy. However, little is known about the genotype-phenotype characteristics of this disorder. Here, we describe a 5-year-old male patient with autism and a normal occipitofrontal circumference.

Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings.

.  gene mutations have been associated with Knobloch syndrome, which is characterized by ocular and brain abnormalities. Here we report a 4.

Biallelic Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism.

Autism spectrum disorder (ASD) is a group of neurological and developmental disabilities characterised by clinical and genetic heterogeneity. The current study aimed to expand ASD genotyping by investigating potential associations with mutations. Specifically, the disease-causing variants of in 410 trios manifesting neurodevelopmental disorders using whole-exome sequencing were explored.

Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations.

KBG syndrome is characterized by dental, craniofacial and skeletal anomalies, short stature and global developmental delay or intellectual disability. It is caused by microdeletions or truncating mutations of ANKRD11. We report four unrelated probands with this syndrome due to de novo ANKRD11 aberrations that may contribute to a better understanding of the genetics and pathophysiology of this autosomal dominant syndrome.

Neuroimaging Findings in Patients with Mutations: Report of Two Cases.

Early B cell factor 3 (EBF3) is a transcription factor involved in brain development. Heterozygous, loss-of-function mutations in have been reported in an autosomal dominant neurodevelopmental syndrome characterized by hypotonia, ataxia, and developmental delay (sometimes described as "HADD"s). We report 2 unrelated cases with novel de novo mutations: c.

ANO3 and early-onset dyskinetic encephalopathy.

Mutations in the ANO3 gene have been associated with autosomal dominant craniocervical dystonia. However, little else is known about the genotype-phenotype characteristics of this disorder. Here we describe a 3 years-old girl with distal myoclonic dystonia.

Correction to: Automatic identification of atypical clinical fMRI results.

The above article was published online with an incorrect affiliation.

A Practical Approach to Imaging of the Supplementary Motor Area and Its Subcortical Connections.

Purpose Of Review: First, an anatomical and functional review of these cortical areas and subcortical connections with T-fMRI and tractography techniques; second, to demonstrate the value of this approach in neurosurgical planning in a series of patients with tumors close to the SMA.

Recent Findings: Implications in language and cognitive networks with a clear hemispheric lateralization of these SMA/pre-SMA. The recommendation of the use of the advanced neuroimaging studies for surgical planning and preservation of these areas.

Automatic identification of atypical clinical fMRI results.

Purpose: Functional MRI is not routinely used for neurosurgical planning despite potential important advantages, due to difficulty of determining quality. We introduce a novel method for objective evaluation of fMRI scan quality, based on activation maps. A template matching analysis (TMA) is presented and tested on data from two clinical fMRI protocols, performed by healthy controls in seven clinical centers.

Cingulate Cortical Thickness and Dopamine Transporter ( DAT1) Genotype in Children and Adolescents With ADHD.

Objective: This study aimed to examine the influence of dopamine transporter gene ( DAT1) 3'UTR genotype on cingulate cortical thickness in a large sample of children and adolescents with ADHD.

Method: Brain MRIs were acquired from 46 ADHD patients with homozygosity for the 10-repeat allele and 52 ADHD patients with a single copy or no copy of the allele. The cingulate cortex of each MRI scan was automatically parceled into sulci and gyri as well as into Brodmann areas (BA).

Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.

We describe a 4-year-old male child born to non-consanguineous Spanish parents with progressive encephalopathy (PE), microcephaly, and hypertonia. Whole exome sequencing revealed compound heterozygous BRAT1 mutations [c.1564G > A (p.

Cortical thickness differences in the prefrontal cortex in children and adolescents with ADHD in relation to dopamine transporter (DAT1) genotype.

Several lines of evidence suggest that the dopamine transporter gene (DAT1) plays a crucial role in attention deficit hyperactivity disorder (ADHD). Concretely, recent data indicate that the 10-repeat (10R) DAT1 allele may mediate neuropsychological functioning, response to methylphenidate, and even brain function and structure in children with ADHD. This study aimed to investigate the influence of 10R DAT1 on thickness of the prefrontal cortex in children and adolescents with ADHD.

Cortical thickness at the time of the initial attack in two patients with paediatric relapsing-remitting multiple sclerosis.

Background: Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system with a low incidence in the paediatric population; cortical atrophy is often striking, even in the early stages of the disease. Evidence of cortical thinning in childhood MS is scant.

Aims: This study aimed to assess cortical thickness in paediatric patients during the initial attack of remitting-relapsing MS.

Prenatal diagnosis of frontonasal dysplasia associated with bilateral periventricular nodular heterotopia.

Frontonasal dysplasia is an etiologically heterogeneous development alteration including a set of anomalies affecting the eyes, forehead, and nose as a result of a malformation of the frontonasal elevation. It could occur either in isolation or as part of a syndrome such as frontonasal dysplasia associated with periventricular heterotopia. Our goal is to document the first clinical case of prenatal diagnosis for frontonasal dysplasia associated with periventricular heterotopia by fetal magnetic resonance imaging (MRI) at weeks 19.

Spontaneous skull base meningoencephaloceles and cerebrospinal fluid fistulas.

Cerebrospinal fluid (CSF) fistulas are characterized by the egress of CSF from the intracranial cavity through an osteodural disruption between the subarachnoid space and a pneumatized structure within the skull base. Depending on the cause, CSF fistulas are classified as acquired or congenital, and acquired fistulas are further classified as traumatic, nontraumatic, or spontaneous. Spontaneous CSF fistulas are considered to result from a multifactorial process and have been postulated to represent a variant of idiopathic intracranial hypertension.

In utero diagnosis of PHACE syndrome by fetal magnetic resonance imaging (MRI).

The acronym PHACE describes the association of facial hemangioma with anomalies of the posterior fossa, cerebral arteries, and cardiovascular and ocular alterations. This study presents a case of diagnostic suspicion based on fetal MRI. We report the case of a pregnant woman whose 26-week MRI revealed a female fetus with hypoplasia of the right cerebellar hemisphere and right microphthalmia, leading to the suspicion of PHACE syndrome.

Role of New Functional MRI Techniques in the Diagnosis, Staging, and Followup of Gynecological Cancer: Comparison with PET-CT.

Recent developments in diagnostic imaging techniques have magnified the role and potential of both MRI and PET-CT in female pelvic imaging. This article reviews the techniques and clinical applications of new functional MRI (fMRI) including diffusion-weighted MRI (DWI), dynamic contrast-enhanced (DCE)-MRI, comparing with PET-CT. These new emerging provide not only anatomic but also functional imaging, allowing detection of small volumes of active tumor at diagnosis and early disease relapse, which may not result in detectable morphological changes at conventional imaging.

[Diffusion MRI in the study of hepatic lesions].

Diffusion weighted imaging (DWI) in magnetic resonance imaging (MRI) is currently an important tool for detecting and characterising hepatic lesions, as well as for monitoring and evaluating the response to the treatment of the tumour disease. The use of this technique is also being assessed for the study of diffuse liver disease. Among the additional advantages of DWI-MRI, is the absence of emission of ionising radiation and not having to use paramagnetic contrasts, which means it can be used in the study of patients with renal failure.

[Radiological findings in congenital anosmia: a case report].

Introduction: Hypoplasia of the olfactory tracts and bulbs is a rare cause of anosmia in the paediatric population. In most cases it is usually due to an acquired cause and in only a few is it associated to chromosomal disorders (Kallman's syndrome, among others).

Case Report: A 10-year-old boy with no chromosomal disorders and a family history of anosmia, who visited because of isolated anosmia; a magnetic resonance scan revealed bilateral hypoplasia of the olfactory tracts and bulbs.

Schizencephaly: pre- and postnatal magnetic resonance imaging.

Schizencephaly is a rare disorder of neuronal migration that is characterized by the presence of clefts that extend from the ependymal surface of the lateral ventricles to the pial lining of the cortex. The authors present the case of a female patient with a prenatal diagnosis made by magnetic resonance imaging (MRI), her clinical course, and neurorradiological evolution following birth. A 6-year-old female, with right open lip schizencephaly, was diagnosed by means of prenatal cerebral magnetic resonance at the gestational age of 25 weeks.

Current imaging modalities in the diagnosis of cervical cancer.

Imaging has become an important adjunct to the clinical assessment of uterine cancer, specially magnetic resonance imaging (MRI) studies. In cervical cancer, the two areas in which MRI is superior to other diagnostic imaging modalities are local diseases staging and evaluation for local recurrence. MRI is an integral part in staging the primary tumour, monitoring responce to treatment, detecting complications and recurrence, and in planning radiotheraphy.