Isolated congenital facial nerve agenesis.

An otherwise healthy 2-month-old boy was referred to ENT for a congenital right facial palsy, with a birth history of difficult ventouse delivery. Initially, a traumatic cause was suspected, however subsequent MR 3D-FIESTA ( weighted) imaging demonstrated a right facial nerve agenesis with normal appearances of the remainder of the brain parenchyma, cranial nerves and parotid glands. There were no syndromic features or hearing difficulties.

The (extended) achondroplasia foramen magnum score has good observer reliability.

Background: Achondroplasia is the most common skeletal dysplasia. A significant complication is foramen magnum stenosis. When severe, compression of the spinal cord may result in sleep apnea, sudden respiratory arrest and death.

Celiac Plexus Block to Treat Refractory Feed Induced Dystonia in Children with Severe Neurodisability: A Single Center Case Series.

Unlabelled: This observational study describes the procedure technique, safety outcomes, and patient responses to celiac plexus blockade (CPB) in children with severe neurodisability with refractory feed intolerance, feed induced pain or feed induced dystonia (FID).

Method: A review of the pathophysiological response to feeding in children with significant neurodisability and the effect on the neuroenteric system. A 2-stage CT-guided temporary celiac plexus blockade followed by neurolysis technique is described.

Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery.

Achondroplasia causes narrowing of the foramen magnum and the spinal canal leading to increased mortality due to cervicomedullary compression in infants and significant morbidity due to spinal stenosis later in adulthood. Vosoritide is a C-natriuretic peptide analogue that has been shown to improve endochondral ossification in children with achondroplasia. The objective of this trial is to evaluate the safety of vosoritide and whether vosoritide can improve the growth of the foramen magnum and spinal canal in children that may require decompression surgery.

Complete Laryngo-Tracheo-Oesophageal Cleft masquerading as Oesophageal Atresia and Tracheo-oesophageal Fistula: A Potential Diagnostic and Management Challenge.

Newborn babies presenting with difficulties related to the aerodigestive tract (ADT) are often provisionally diagnosed and managed as having oesophageal atresia +/- tracheo-oesophageal fistula. Continuing difficulties with management and abnormal findings on investigations should lead to the consideration of other congenital anomalies of the ADT, including complete larnygo-tracheo-oesophageal cleft (LTOC). We present two patients who were eventually diagnosed with complete LTOC and care was withdrawn.

Visualisation of fetal meconium on post-mortem magnetic resonance imaging scans: a retrospective observational study.

Background: Less invasive techniques for fetal post-mortems are increasingly used to correlate with parental wishes. With the use of post-mortem magnetic resonance imaging (MRI), normal appearance of the organs must be established.

Purpose: To investigate the after death appearance of the fetal meconium throughout gestation using the hyperintense appearance of meconium on T1 weighted MRI.

Biometric analysis of the foetal meconium pattern using T1 weighted 2D gradient echo MRI.

Objectives: Foetal MRI is used to assess abnormalities after ultrasonography. Bowel anomalies are a significant cause of neonatal morbidity, however there are little data concerning its normal appearance on antenatal MRI. This study aims to investigate the pattern of meconium accumulation throughout gestation using its hyperintense appearance on weighted scans and add to the current published data.

Benefits and Limitations of the Minimally Invasive Postmortem: A Review of an Innovative Service Development.

Introduction: Pediatric postmortem (PM) rates have significantly declined, creating a need for effective minimally invasive alternatives to correlate with parental wishes. We review the use of a minimally invasive fetal and neonatal PM service further to preliminary findings published in 2015.

Materials And Methods: Cases taken from the mortuary electronic database from 2012 to 2017 are analyzed.

Avoiding skull radiographs in infants with suspected inflicted injury who also undergo head CT: "a no-brainer?".

Objectives: To assess whether head CT with 3D reconstruction can replace skull radiographs (SXR) in the imaging investigation of suspected physical abuse (SPA)/abusive head trauma (AHT).

Methods: PACS was interrogated for antemortem skeletal surveys performed for SPA, patients younger than 2 years, SXR and CT performed within 4 days of each other. Paired SXR and CT were independently reviewed.

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.

We aim to further delineate the phenotype associated with pathogenic variants in the SLC35A2 gene, and review all published literature to-date. This gene is located on the X chromosome and encodes a UDP-galactose transporter. Pathogenic variants in SLC35A2 cause a congenital disorder of glycosylation.

Surfer's exostosis in a child who does not surf.

Surfer's exostoses are more commonly seen in adults who frequently participate in aquatic activities with repeated exposed to cold water and wind. However, this entity has not been previously reported in the pediatric population. Most patients can be managed conservatively, particularly considering that surgical removal of external auditory canal exostosis can be challenging.

Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.

WDR45 gene-associated neurodegeneration with brain iron accumulation (NBIA), referred to as beta-propeller protein-associated neurodegeneration (BPAN), is a rare disorder that presents with a very nonspecific clinical phenotype in children constituting global developmental delay. This case report illustrates the power of a combination of trio exome sequencing, in silico splicing analysis, and mRNA analysis to provide sufficient evidence for pathogenicity of a relatively intronic variant in WDR45, and in so doing, find a genetic diagnosis for a 6-year-old patient with developmental delay and seizures, a diagnosis which may otherwise have only been found once the characteristic MRI patterns of the disease became more obvious in young adulthood.

Thoracic Kyphosis is Now Uncommon Amongst Children and Adolescents with Cystic Fibrosis.

Historically, thoracic kyphosis has been reported to be common amongst patients with cystic fibrosis (CF). The mechanisms leading to the development of this abnormality of the chest wall are not fully understood. In order to explore the prevalence of the condition amongst children with CF in the early twenty-first century and to explore factors that might be contributing to its development, a retrospective cross sectional study was undertaken in a regional CF unit.

Blue rubber bleb naevus syndrome and Chiari malformation: high risk of peroperative haemorrhage.

Blue rubber bleb naevus syndrome is an uncommon disorder whereby patients possess cutaneous vascular malformations. Cranial malformations have been rarely reported in the literature. We report the first ever case of a patient with blue rubber bleb naevus syndrome (BRBNS), who was found to have a symptomatic Chiari malformation and prominent subcutaneous vascular malformations in communication with the intracranial venous sinuses.

Dynamic pelvic floor ultrasound for lower urinary tract symptoms in children--initial report on normative values.

Purpose: Lower urinary tract symptoms (LUTS) are common in children. The aim of this study was to determine normal values for pelvic floor movement in asymptomatic controls to allow comparison with symptomatic children with dysfunctional voiding (DV) in the next phase of the study.

Material And Methods: One hundred children between the ages of 5-17 years were recruited prospectively as controls.

Craniospinal abnormalities and neurologic complications of osteogenesis imperfecta: imaging overview.

Osteogenesis imperfecta is a rare genetic disorder that leads to progressive skeletal deformities due to deficits in type I collagen, the main pathophysiologic effect of the disease. In addition, it may lead to a wide range of associated neurologic abnormalities: The central nervous system is usually involved because of softening of bone at the base of the skull, with resultant upward migration of the upper cervical spine and odontoid process into the skull base. Upward migration of the spine may cause compression of the brainstem, mechanical impingement of the spinal canal with restriction of cerebrospinal fluid circulation, and impingement of the cranial nerves.

The use of MR imaging and spectroscopy of the brain in children investigated for developmental delay: what is the most appropriate imaging strategy?

Objectives: Developmental delay is a common problem in paediatric practice and many children with developmental delay are referred for MR imaging. Our study was performed as part of a continuing audit process to optimise our MR protocol and case selection.

Materials And Methods: We performed MR imaging and spectroscopy protocol on 157 children with developmental delay.

Childhood moyamoya disease and moyamoya syndrome: a pictorial review.

Moyamoya disease is an uncommon chronic cerebrovasculopathy, characterized by progressive stenosis of the terminal portion of the internal carotid artery and its main branches, in association with the development of compensatory collateral vessels at the base of the brain. The etiology is unknown, and was originally considered exclusive to East Asia, with particular prevalence in Japan. Moyamoya disease is increasingly diagnosed throughout the world, and represents an important cause of childhood stroke in Western countries.

Intracranial non-Langerhans cell histiocytosis presenting as an isolated intraparenchymal lesion.

Non-Langerhans cell histiocytosis in the absence of cutaneous or other organ involvement is very rare. A Caucasian boy age 3 years 11 months presented with episodes of recurrent right-side seizures over 2 weeks. Brain CT and MR imaging showed a single enhancing left frontal lobe lesion.

Fluoroscopy-guided insertion of nasojejunal tubes in children - setting local diagnostic reference levels.

Background: Little is known about the radiation burden from fluoroscopy-guided insertions of nasojejunal tubes (NJTs) in children. There are no recommended or published standards of diagnostic reference levels (DRLs) available.

Objective: To establish reference dose area product (DAP) levels for the fluoroscopy-guided insertion of nasojejunal tubes as a basis for setting DRLs for children.

Congenital nasal piriform aperture stenosis with vestibular abnormality.

We present a neonate with congenital nasal piriform aperture stenosis associated with an abnormal vestibular aperture. Radiological evaluation with CT is essential to confirm the diagnosis and delineate the anatomy for surgical planning. Extension of the scan field of view to include the petrous temporal bone is essential to identify associated abnormalities of the vestibule.

Anterior spinal cord infarction owing to possible fibrocartilaginous embolism.

Anterior spinal artery syndrome is characterised by acute flaccid quadriparesis or paraparesis, disturbance of pain and temperature sensation, and loss of sphincter control. Fibrocartilaginous embolism is a rarely recognised, but important cause of spinal cord infarction. Fibrocartilaginous embolisation usually occurs after minor trauma without major bony lesions, typically with an intervening symptom-free interval and progressive 'stroke-in-evolution' course.

Spontaneous occlusion of post-traumatic splenic pseudoaneurysm: report of two cases in children.

Conservative therapy for splenic injuries is widely advocated. The advantages of conservative therapy for splenic injuries include the preservation of splenic immune function, prevention of overwhelming post-splenectomy sepsis, and avoidance of laparotomy and its associated early and late complications. Pseudoaneurysms of the splenic artery branch are encountered because of the prevalence of conservative management and widespread use of imaging techniques in the follow-up of these cases.