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Childs Nerv Syst 2022 May 19. Epub 2022 May 19.

Department of Neurologic Surgery, Mayo Clinic, Rochester, MN, USA.

Objective: Chiari I malformation is treated with suboccipital craniectomy with cervical laminectomy, a procedure which has been associated with the possibility of pre-existing or iatrogenic occipitocervical instability. The long-term risk of subsequent spinal deformity and need for occipito cervical fusion after standard Chiari decompression in pediatric patients has not yet been characterized.

Methods: We queried our institutional electronic database for patients aged 18 and under, with at least 5 years of follow-up, that underwent surgical decompression for Chiari I malformation. Read More

J Neuropathol Exp Neurol 2022 Mar;81(4):296-298

Department of Pathology, Yale School of Medicine, New Haven, Connecticut, USA.

J Neurosurg Pediatr 2022 Feb 4:1-7. Epub 2022 Feb 4.

1Section of Neurosurgery, Children's Mercy Hospital, Kansas City, Missouri.

Objective: The purpose of this study was to compare the incidence of significant brainstem dysfunction (SBD) in neonates with myelomeningocele who have been treated with prenatal versus postnatal closure at a single institution.

Methods: The records and imaging of all children undergoing either prenatal (n = 27) or postnatal (n = 60) closure of myelomeningocele at the authors' institution from December 2014 through May 2021 were reviewed. SBD, fetal ventricular size, gestational age at fetal imaging and delivery, postnatal ventricular size, need for and type of hydrocephalus treatment, spinal neurological level at birth, anatomical Chiari severity, death, and prenatal or postnatal repair were factors recorded. Read More

Neurol India 2021 Nov-Dec;69(Supplement):S367-S371

Division of Pediatric Neurosurgery, Department of Neurosurgery, University of Alabama at Birmingham, Birmingham, Al. USA 35233, USA.

Hydrocephalus is the most important co-morbidity in myelomeningocele from a neurosurgical perspective. Historically, 75-80% of patients with myelomeningocele have required treatment with a shunt but recent advances including intra-uterine myelomeningocele closure and ETV-CPC are reducing this burden. The expression of hydrocephalus differs between patients and across the life span. Read More

Kurume Med J 2022 Mar 31;67(1):49-52. Epub 2022 Jan 31.

Department of Neurosurgery, Tulane Center for Clinical Neurosciences, Tulane University School of Medicine.

The second largest intracranial specialization of the dura mater, the tentorium cerebelli, is a transverse fold that partially separates the cerebellum and cerebral hemispheres. During routine dissection of the posterior cranial fossa, a left-sided hypoplastic region of the tentorium cerebelli was observed. This fenestration was seen at the posterior portion of the tentorium as a posteromedial strip of tissue rising vertically to interface with the falx cerebri. Read More

Pediatr Neurosurg 2022 22;57(2):71-77. Epub 2021 Dec 22.

Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Introduction: Ultrasound (US)-based indexes such as fronto-occipital ratio (FOR) can be used to obtain an acceptable estimation of ventricular volume. Patients with colpocephaly present a unique challenge due to the shape of their ventricles. In the present study, we aimed to evaluate the validity and reproducibility of the modified US-FOR index in children with Chiari II-related ventriculomegaly. Read More

Neuroradiology 2022 Feb 18;64(2):233-245. Epub 2021 Nov 18.

Elizabeth Garrett Anderson Institute for Women's Health, University College London, London, UK.

Purpose: Open spina bifida (OSB) encompasses a wide spectrum of intracranial abnormalities. With foetal surgery as a new treatment option, robust intracranial imaging is important for comprehensive preoperative evaluation and prognostication. We aimed to determine the incidence of infratentorial and supratentorial findings detected by magnetic resonance imaging (MRI) alone and MRI compared to ultrasound. Read More

Br J Neurosurg 2021 Nov 8:1-3. Epub 2021 Nov 8.

Paediatric noninvasive ventilation and sleep unit, AP-HP, Hôpital Necker-Enfants malades, Paris, France.

Background: Children with Chiari Malformation type II (CM-II) have an increased risk of sleep apnoea. The aim of the study was to describe the management of patients with CM-II in relation to sleep apnoea syndrome, clinical symptoms and magnetic resonance imaging (MRI) findings.

Case Series Presentation: The paper reports 8 consecutive patients with CM-II followed between September 2013 and April 2017. Read More

Br J Radiol 2022 Jan 5;95(1129):20201241. Epub 2021 Oct 5.

Department of Translational Medical Science, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.

Alagille syndrome (ALGS) is a multisystemic disease caused by mutations in genes of pathway, which regulates embryonic cell differentiation and angiogenesis. Clinically, ALGS is characterized by cholestasis, cardiac defects, characteristic facial features, skeletal and ophthalmologic abnormalities. The aim of this review is to illustrate neuroradiological findings in ALGS, which are less well-known and prevalent, including cerebrovascular anomalies (such as aneurysms, dolichoectasia, Moyamoya syndrome and venous peculiarities), Chiari 1 malformation, craniosynostosis, intracranial hypertension, and vertebral anomalies (namely butterfly vertebra, hemivertebra, and craniocervical junction anomalies). Read More

J Pediatr Orthop 2021 Nov-Dec 01;41(10):585-590

Division of Orthopaedics, The Children's Hospital of Philadelphia, Philadelphia, PA.

Background: Patients with adolescent idiopathic scoliosis (AIS) are commonly monitored for curve progression with spinal radiographs; however, the utility of magnetic resonance imaging (MRI) screening is unclear. The purpose of this study was to assess the findings of screening MRI for patients with a nonsurgical curve size ordered during routine clinical care and compare them with MRI ordered for patients with large curves as part of preoperative screening.

Methods: All consecutive patients with presumed AIS who underwent entire-spine MRI with a presumed diagnosis of idiopathic scoliosis at a single institution between 2017 and 2019 were retrospectively reviewed. Read More

Fetal Diagn Ther 2021 11;48(8):588-595. Epub 2021 Aug 11.

Zurich Center for Spina Bifida, University Children's Hospital Zurich, Zurich, Switzerland.

Introduction: This retrospective study investigates brain malformations and their impact on neurodevelopmental outcome in children after prenatal surgery for spina bifida (SB).

Methods: Sixty-one patients were included. On neonatal MRI, SB-associated brain malformations were assessed. Read More

Ital J Pediatr 2021 Jul 1;47(1):146. Epub 2021 Jul 1.

University of Trieste, Via dell'Istria 65/1, Trieste, Italy.

Background: Juvenile idiopathic inflammatory myopathies (JIIMs) are a group of heterogenous, acquired, autoimmune disorders that affect the muscle. While the association between IIMs and malignancy has been widely reported in adults, cancer-associated myositis (CAM) is rare in children, so that routine malignancy screening is not generally performed. This report shows a case of severe CAM in a child. Read More

Ultrasound Obstet Gynecol 2022 Jan;59(1):49-54

Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany.

Objective: To evaluate whether in fetuses with open spina bifida (OSB) the tentorium can be seen to be displaced downwards and vertically oriented by the time of the 11-13-week scan and whether this is reflected in an alteration of the brainstem-tentorium (BST) angle.

Methods: The study population was recruited between 2015 and 2020 from three fetal medicine referral centers and comprised a control group and a study group of pregnancies with OSB. The control group was recruited prospectively and included singleton pregnancies with a normal sonographic examination after first-trimester combined screening for chromosomal abnormalities and normal outcome. Read More

Prenat Diagn 2021 Jul 19;41(8):922-932. Epub 2021 Jun 19.

Department of Radiology, Division of Neuro- and Musculoskeletal Radiology, Medical University of Vienna, Vienna, Austria.

Objective: This systematic comparison between pre- and postnatal imaging findings and postnatal motor outcome assesses the reliability of MRI accuracy in the prognostication of the future long-term (mean, 11.4 years) ambulatory status in a historic group of postnatally repaired myelomeningocele (MMC) cases.

Methods: A retrospective, single-center study of 34 postnatally repaired MMC patients was performed. Read More

J Vet Intern Med 2021 Jul 3;35(4):1848-1856. Epub 2021 May 3.

Department of Equine and Small Animal Medicine, Faculty of Veterinary Medicine, University of Helsinki, Helsinki, Finland.

Background: Persistent fontanelles (PFs) are, in Chihuahuas, almost ubiquitous. Furthermore, Chihuahuas are predisposed to other craniomorphological abnormalities, including syringomyelia (SM), ventriculomegaly, and craniocervical junction (CCJ) overcrowding resulting in neural tissue deviation. It is, however, undetermined if PFs are more common in dogs with these structural abnormalities, and their etiology is unknown. Read More

Prenat Diagn 2021 Jul 5;41(8):942-948. Epub 2021 Feb 5.

Fetal Imaging Unit, FETALMED-Maternal-Fetal Diagnostic Center, Santiago, Chile.

Objective: To investigate the role of the interpeduncular angle (IPA) as a new indicator of intracranial hypotension in fetuses with open spinal dysraphism (SD).

Methods: Two groups of fetuses undergoing magnetic resonance imaging (MRI) examination were identified. The study group included fetuses with open SD (n = 21), while the control group included fetuses with a normal brain and spine (n = 43). Read More

J Neurosurg Pediatr 2021 Jan 8;27(4):375-381. Epub 2021 Jan 8.

4Neurosurgery, and.

Objective: Patients with shunted hydrocephalus often accumulate high levels of radiation over their lifetimes during evaluation of hardware integrity. Current practice involves the use of a series of conventional radiographs for this purpose. Newer low-dose EOS radiography is currently used to evaluate scoliosis but has not been explored to evaluate shunt integrity on a large scale. Read More

Am J Hum Genet 2021 01 21;108(1):100-114. Epub 2020 Dec 21.

Department of Pediatrics, Washington University, St. Louis, MO 63110, USA; Department of Orthopaedic Surgery, Washington University, St. Louis, MO 63110, USA; Department of Neurology, Washington University, St. Louis, MO 63110, USA.

Chiari I malformation (CM1), the displacement of the cerebellum through the foramen magnum into the spinal canal, is one of the most common pediatric neurological conditions. Individuals with CM1 can present with neurological symptoms, including severe headaches and sensory or motor deficits, often as a consequence of brainstem compression or syringomyelia (SM). We conducted whole-exome sequencing (WES) on 668 CM1 probands and 232 family members and performed gene-burden and de novo enrichment analyses. Read More

Clin Neurol Neurosurg 2021 02 4;201:106406. Epub 2020 Dec 4.

Departments of Neurosurgery, Kurume University School of Medicine, Kurume, Fukuoka Prefecture, Japan.

Objective: Endoscopic third ventriculostomy (ETV) has now become an accepted mode of hydrocephalus treatment. However, the long-term effects of ETV for myelomeningocele-related hydrocephalus (MMC-rH) after shunt malfunction remains unclear. We aimed to assess the long-term outcome and the factors associated with the success of ETV for MMC-rH after shunt malfunction. Read More

Pediatr Radiol 2020 12 30;50(13):1988-1998. Epub 2020 Nov 30.

Department of Radiology and Medical Imaging, Cincinnati Children's Hospital Medical Center, 333 Burnet Ave., MLC 5031, Cincinnati, OH, 45229-3026, USA.

Over the last decade fetal surgery to repair open spinal dysraphisms has become an acceptable and in some cases desirable alternative to the traditional method of postnatal closure. Fetal MRI is an essential part of the workup in these patients, not only to select the appropriate candidates for fetal surgery but also to guide prenatal counseling and perinatal management. In this article we review current surgical techniques for prenatal repair, relevant imaging findings in the era of fetal surgery, and expected imaging findings of the brain and spine in the fetal and postnatal periods. Read More

Childs Nerv Syst 2021 03 4;37(3):969-972. Epub 2020 Nov 4.

Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo (EPM-UNIFESP), Rua Belchior de Azevedo, 156 apto. 111 Torre Vitoria, São Paulo, SP, Brazil.

Background: Myelomeningocele (MMC) is the most severe form of spina bifida with intrauterine repairs becoming more prevalent. The development of three-dimensional ultrasound (3DUS) and magnetic resonance imaging (MRI) has drastically improved the visualization of fetal anatomy.

Methods: Virtual Navigation (VN) results from a technology that uses software generated realistic images to replicate the immersive feeling of a real environment. Read More

Childs Nerv Syst 2021 02 20;37(2):367-374. Epub 2020 Oct 20.

Department of Neurosurgery, Birmingham Children's Hospital, Birmingham, West Midlands, UK.

Pfeiffer syndrome (PS) is a rare autosomal dominant craniofacial disorder characterized by primary craniosynostosis, midface hypoplasia, and extremities' abnormalities including syndactyly. The purpose of this article was to review the current knowledge regarding how PS affects the nervous system. Methodologically, we conducted a systematic review of the existing literature concerning involvement of the nervous system in PS. Read More

Childs Nerv Syst 2020 10 13;36(10):2571-2596. Epub 2020 Oct 13.

Pediatric Neurosurgery, International Neuroscience Institute (INI), Hannover, Germany.

Neurocutaneous melanosis (NCM; MIM # 249400; ORPHA: 2481], first reported by the Bohemian pathologist Rokitansky in 1861, and now more precisely defined as neurocutaneous melanocytosis, is a rare, congenital syndrome characterised by the association of (1) congenital melanocytic nevi (CMN) of the skin with overlying hypertrichosis, presenting as (a) large (LCMN) or giant and/or multiple (MCMN) melanocytic lesions (or both; sometimes associated with smaller "satellite" nevi) or (b) as proliferative melanocytic nodules; and (2) melanocytosis (with infiltration) of the brain parenchyma and/or leptomeninges. CMN of the skin and leptomeningeal/nervous system infiltration are usually benign, more rarely may progress to melanoma or non-malignant melanosis of the brain. Approximately 12% of individuals with LCMN will develop NCM: wide extension and/or dorsal axial distribution of LCMN increases the risk of NCM. Read More

Oper Neurosurg (Hagerstown) 2021 01;20(2):E131-E132

Department of Neurosurgery, University of Cincinnati College of Medicine, Cincinnati, Ohio.

Myelomeningocele (MMC) is the most common open neural tube defect associated with long-term survival. In 2011, The Management of Myelomeningocele Study (MOMS) trial demonstrated that fetal repair for MMC reduced the rate of shunted hydrocephalus and improved developmental, motor, and ambulation outcomes at 30 mo compared to postnatal intervention.1 Recent studies have demonstrated the safety and feasibility of fetoscopic MMC repair as well as reduction in preterm birth, lower risk of uterine dehiscence, and the option of vaginal delivery with this approach compared to open fetal repair. Read More

AJNR Am J Neuroradiol 2020 11 17;41(11):1975-1981. Epub 2020 Sep 17.

From the Division of Diagnostic and Interventional Neuroradiology (S.B.H., A.F., J.B., M.I.V.)

Chiari malformations are a diverse group of abnormalities of the brain, craniovertebral junction, and the spine. Chiari 0, I, and 1.5 malformations, likely a spectrum of the same malformation with increasing severity, are due to the inadequacy of the para-axial mesoderm, which leads to insufficient development of occipital somites. Read More

BJOG 2021 01;128(2):366-374

Elizabeth Garrett Anderson Institute for Women's Health, University College London, London, UK.

Background: Abnormal intracranial findings are often detected at mid-trimester ultrasound (US) in fetuses with myelomeningocele (MMC). It is unclear whether these findings constitute a spectrum of the disease or are an independent finding, which should contraindicate fetal surgery.

Objective: To ascertain the spectrum and frequency of US-detected cranial findings in fetuses with MMC. Read More

Pediatr Neurosurg 2020 12;55(3):175-180. Epub 2020 Aug 12.

Department of Neurosurgery, Alder Hey Children's Hospital NHS Trust, Liverpool, United Kingdom.

Background: Following the publication of the Management of Myelomeningocele study (MOMS), fetal repair of myelomeningocele (MMC) has become increasingly prevalent worldwide. However, limited case presentations exist illustrating the potential mechanical and embryological effects of fetal repair. We present a unique case report of a complex embryological cervicomedullary junction (CMJ) malformation and cerebellar hypoplasia following fetal repair of MMC. Read More

Neurosurgery 2020 12;88(1):E60-E66

Department of Neurological Surgery, New York Presbyterian Hospital - Weill Cornell Medical College, New York, New York.

Background: The pathophysiological connection between Chiari malformation and syringomyelia is accepted. Debate remains, however, how can we best define changes in syringomyelia following surgery.

Objective: To introduce a grading system focusing on syrinx reduction based on routinely and reproducible radiological information, and provide a suggestion of the application of this scale for prediction of patient's prognoses. Read More

Radiographics 2020 Sep-Oct;40(5):1458-1472. Epub 2020 Jul 24.

From the Department of Radiology (S.W.C., S.V.G.) and Department of Obstetrics & Gynecology (B.K.B.), Duke University, 2301 Erwin Rd, Box 3808, Durham, NC 27710.

Fetal central nervous system (CNS) abnormalities are second only to cardiac malformations in their frequency of occurrence. Early and accurate diagnosis at prenatal US is therefore essential, allowing improved prenatal counseling and facilitating appropriate referral. Thorough knowledge of normal intracranial anatomy and adoption of a logical sonographic approach can improve depiction of abnormal findings, leading to a more accurate differential diagnosis earlier in pregnancy. Read More

Eur Spine J 2020 11 16;29(11):2758-2768. Epub 2020 Jul 16.

Department of Orthopaedics, Seth G.S. Medical College and K.E.M. Hospital, 6th Floor MSB, Parel, Mumbai, 400 012, India.

Study Design: Retrospective study.

Objective: Congenital craniovertebral (CV) anomalies include a wide variety of conditions involving basilar invagination (BI), atlantoaxial dislocation (AAD), bony congenital anomalies and Chiari malformation. The management of these disorders is more surgeon dependent rather than based on clear guidelines. Read More