Liat Ben-Sira

Abnormal White Matter Integrity in Young Children with Autism

This study investigated white matter integrity in young children with autism using diffusion tensor imaging (DTI). Twenty‐two children with autism, mean age 3:2 years, and 32 controls, mean age 3:4 years, participated in the study. Tract‐based spatial statistics (TBSS) revealed white matter abnormalities in several distinct clusters within the genu and body of the corpus callosum (CC), left superior longitudinal fasciculus (SLF) and right and left cingulum (Cg). TBSS–VOIs analysis was performed in the clusters where differences in fractional anisotropy (FA) were detected to investigate the relationship between changes in FA and diffusivity indices. In all VOIs, increase in FA was caused by a decrease in radial diffusivity (Dr), while no changes in axial diffusivity (Da) or mean diffusivity (MD) were observed. Tractography analysis was applied to further study the CC, SLF, and Cg. Witelson parcellation scheme was used for the CC. Significant increase in FA was seen in children with autism in the mid‐body of the CC as well as in the left Cg. It is suggested that such abnormal white matter integrity in young children with autism may adversely affect connectivity between different brain regions and may be linked to some of the behavioral impairments apparent in autism. Hum Brain Mapp, 2011.

Fetal brain imaging: a comparison between magnetic resonance imaging and dedicated neurosonography

To evaluate whether fetal brain magnetic resonance imaging (MRI) adds useful clinical information to that obtained by dedicated fetal neurosonography using a combined transabdominal and transvaginal approach in fetuses with suspected brain anomalies.

Prenatal diagnosis of malformations of cortical development by dedicated neurosonography

Malformations of cortical development (MCD) are rarely diagnosed in utero. We describe and compare the ultrasonographic and pathology findings in a cohort of fetuses with MCD.

Severe scrotal pain in boys with Henoch-Schönlein purpura: incidence and sonography

Background. Henoch-Schönlein purpura (HSP) is a systemic vasculitis with multiorgan involvement. The scrotal involvement and its sonographic appearance are less well recognized than that of the kidneys and abdomen, and the reported incidence is varied.¶Objective. To review the incidence of significant scrotal involvement in boys with HSP and its sonographic characteristics.¶Materials and methods. Thirteen boys (ages 4–11 years) out of 87 boys diagnosed with HSP, over a 15-year period had significant scrotal complaints. Seven underwent sonographic evaluation to define the extent of scrotal involvement and because testicular torsion was being considered.¶Results. Scrotal involvement producing significant pain occurred in 15 % of boys with HSP. The majority of boys had the diagnosis of HSP established before developing scrotal complaints. Sonographic findings consistently included an enlarged, rounded epididymis, thickened scrotal skin, and a hydrocele. The testes themselves were usually sonographically normal.¶Conclusions. Scrotal involvement in boys with HSP is not uncommon. The sonographic findings in the scrotum are sufficiently characteristic to allow distinction from torsion in most cases.

Low-Risk Lumbar Skin Stigmata in Infants: The Role of Ultrasound Screening

OBJECTIVE To reassess the utility and validity of ultrasound (US) screening in infants with lumbar midline skin stigmata (MSS) that may be associated with tethering of the spinal cord. STUDY DESIGN We conducted a prospective observational study of 254 infants under age 6 months with suspicious dorsal MSS between 2005 and 2007. All infants were examined by US and neurosurgical clinical evaluation, and 50 infants also underwent magnetic resonance imaging (MRI). The US and MRI findings were analyzed for correlation. Associations between the imaging findings and the presence of the low-risk skin lesions simple dimple (113 cases) and deviated gluteal fold (DGF; 44 cases) also were evaluated. RESULTS Analysis of US and MRI results for the cohort of 50 neonates in whom both examinations were performed showed high concordance. The low-risk group of infants with simple dimple and DGF constituted 157 US procedures, 96% of which were of high quality, providing clear visualization of spinal components. None demonstrated any clinically significant pathological findings. CONCLUSIONS Our data reaffirm the reliability of US as a screening tool for tethered cord syndrome. Infants with low-risk lesions, such as simple dimple and DGF, may be absolved from US screening, because these findings alone do not indicate underlying pathological lesions. We propose a simplified diagnostic classification system for MSS.

Optic Nerve Sheath Diameter on MR Imaging: Establishment of Norms and Comparison of Pediatric Patients with Idiopathic Intracranial Hypertension with Healthy Controls

BACKGROUND AND PURPOSE: IIH is a disorder associated with increased intracranial pressure with no clinical, laboratory, or radiologic evidence of an intracranial space-occupying lesion. The aim of this study was to establish ONSD standards of healthy pediatric subjects and compare the normal measurements with those of patients with IIH. MATERIALS AND METHODS: One hundred fifteen MR imaging studies of children 4 months to 17 years of age were blinded and reviewed by a pediatric neuroradiologist. A total of 230 optic nerves were measured. Eighty-six MR imaging examinations were performed in apparently healthy subjects. This control group included subjects who underwent MR imaging for various reasons, and their MR imaging findings were interpreted as normal. Twenty-nine MR imaging examinations were performed in patients with documented IIH. The ONSD was measured 1 cm anterior to the optic foramina on an axial T2 sequence. For statistical analysis, both patients and controls were stratified into 4 age groups (I, 0–3 years; II, 3–6 years; III, 6–12 years; IV, 12–18 years). RESULTS: The mean ONSD of the control group in all age groups (I, 3.1 mm; II, 3.41 mm; III, 3.55 mm; IV, 3.56 mm) was significantly smaller than the mean ONSD of patients (I, 4.35 mm; II, 4.37 mm; III, 4.25 mm; IV, 4.69 mm). A positive correlation between age and ONSD (r = 0.414, P < .01) was found in the control group. CONCLUSIONS: According to our study, in pediatric patients with IIH, the ONSD is significantly larger than that in healthy controls regardless of age group and sex. This measurement might prove to be an auxiliary tool in the diagnosis of increased intracranial pressure in pediatric patients.

Visual outcome following chemotherapy for progressive optic pathway gliomas

Optic pathway gliomas (OPG) are relatively indolent tumors that may occur sporadically or in association with neurofibromatosis 1. Treatment is initiated only when a clear clinical or radiological deterioration is documented. Chemotherapy is the standard first line of treatment. Due to the indolent nature of this tumor, the most important challenge in OPG treatment is vision preservation.

Pre-operative sonographic diagnosis of incarcerated neonatal Spigelian hernia containing the testis

BackgroundSpigelian hernia (SH) is a ventral hernia that occurs along the semilunar line formed by the fibrous union of the rectus sheath and the anterior abdominal wall muscles, usually containing small bowel segments, omental fat or both. Spigelian hernias are rare in adults and exceedingly rare in children. A few case reports describing SH in the paediatric population have been published and an association with cryptorchidism has been very rarely reported.ObjectiveTo report three examples of SH.ResultsWe describe three examples of SH containing incarcerated testis in two neonates. These were diagnosed preoperatively with US. Ultrasound-guided reduction of the hernia contents was performed successfully in one case.ConclusionsUltrasound plays an important role in the diagnosis and management of these hernias.

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi―Goutiéres syndrome associated with mtDNA deletions

Aicardi–Goutiéres syndrome (AGS) is a genetic neurodegenerative disorder with clinical symptoms mimicking a congenital viral infection. Five causative genes have been described: three prime repair exonuclease1 (TREX1), ribonucleases H2A, B and C, and most recently SAM domain and HD domain 1 (SAMHD1). We performed a detailed clinical and molecular characterization of a family with autosomal recessive neurodegenerative disorder showing white matter destruction and calcifications, presenting in utero and associated with multiple mtDNA deletions. A muscle biopsy was normal and did not show any evidence of respiratory chain dysfunction. Southern blot analysis of tissue from a living child and affected fetuses demonstrated multiple mtDNA deletions. Molecular analysis of genes involved in mtDNA synthesis and maintenance (POLGα, POLGβ, Twinkle, ANT1, TK2, SUCLA1 and DGOUK) revealed normal sequences. Sequencing of TREX1 and ribonucleases H2A, B and C failed to reveal any mutations. Whole-genome homozygosity mapping revealed a candidate region containing the SAMHD1 gene. Sequencing of the gene in the affected child and two affected fetuses revealed a large deletion (9 kb), spanning the promoter, exon1 and intron 1. The parents were found to be heterozygous for this deletion. The identification of a homozygous large deletion in the SAMHD1 gene causing atypical AGS with multiple mtDNA deletions may add information regarding the involvement of mitochondria in self-activation of innate immunity by cell intrinsic components.

Does normal fetal brain ultrasound predict normal neurodevelopmental outcome in congenital cytomegalovirus infection

We evaluated the neuropsychological outcome of children with proven congenital cytomegalovirus (CMV) infection and normal consecutive fetal neurosonographic examinations.