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Prenat Diagn 2021 Jan 21. Epub 2021 Jan 21.

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 8:1-7. 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

Childs Nerv Syst 2021 Mar 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 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

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

BJOG 2021 01 28;128(2):347-352. Epub 2020 Jul 28.

Department of Medicine and Surgery, Unit of Surgical Sciences, Obstetrics and Gynaecology, University of Parma, Parma, Italy.

Objective: To evaluate the usefulness of a Doppler technology highly sensitive for low-velocity flow in the antenatal imaging of the torcular herophili (TH) in the second trimester of pregnancy.

Design: Prospective study.

Setting: Referral Fetal Medicine Unit. Read More

Clin Imaging 2020 Aug 26;64:24-28. Epub 2020 Feb 26.

Department of Radiology & Imaging Sciences, Emory University Hospital, 1364 Clifton Rd, Atlanta, GA 30322, United States of America. Electronic address:

Purpose: To systematically evaluate the sella morphology and pituitary gland height on brain MRI of Chiari II malformation (C2M) patients to understand the observed high incidence of apparent enlargement of the pituitary gland.

Methods: Brain MRIs of C2M patients at a single tertiary care adult institution were retrospectively reviewed. We also evaluated two age and gender-matched control groups-patients with normal brain MRI (C1 group) and chronic ventricular shunts (C2 group). Read More

Pediatr Radiol 2020 06 17;50(7):984-989. Epub 2020 Mar 17.

Department of Neuroradiology, Children's National Health System, 111 Michigan Ave. NW, Washington, DC, 20010, USA.

Background: The falx cerebelli is a retrocerebellar dural reflection. The MR spectrum of the fetal falx cerebelli has not been described.

Objective: To determine the prevalence of falx cerebelli abnormalities in the context of posterior fossa malformations and compare them to age-matched normal fetal MRI exams. Read More

AJNR Am J Neuroradiol 2020 04 27;41(4):729-735. Epub 2020 Feb 27.

From the Department of Radiology (M.T.W., N.N.), Children's National Hospital, Washington, DC.

Background And Purpose: The massa intermedia is a normal midline transventricular thalamic connection. Massa intermedia aberrations are common in schizophrenia, Chiari II malformation, X-linked hydrocephalus, Cornelia de Lange syndrome, and diencephalic-mesencephalic junction dysplasia, among others. We have noticed that massa intermedia abnormalities often accompany other midline malformations. Read More

Fetal Pediatr Pathol 2020 Feb 25:1-5. Epub 2020 Feb 25.

Fetopathology Unit, Hospital Habib Bougatfa of Bizerte, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Luckenschadel is commonly associated with Chiari II malformation and myelomeningocele. The aim of this case report was to revisit this entity. Antenatal imaging performed at 32 weeks gestation showed severe hydrocephalus with brain parenchymal thinning, cerebellar hypoplasia and lumbar myelomeningocele, suggestive of Chiari type II malformation. Read More

Neurol Sci 2020 Jul 30;41(7):1751-1757. Epub 2020 Jan 30.

Department of Neurosurgery, Hospital do Servidor Público Estadual - IAMSPE, São Paulo, Brazil.

Background: The craniovertebral junction is an anatomically well-defined transitional zone located between the skull and the cervical spine. Multiple malformations can affect this region with the most prominent being basilar invagination (BI) and Chiari malformation (CM). Despite numerous studies, the origin, pathophysiology, and classification of these pathologies remain controversial. Read More

Pediatr Neurosurg 2020 21;55(1):46-50. Epub 2020 Jan 21.

Department of Neurological Surgery, Indiana University School of Medicine, Indianapolis, Indiana, USA.

This report describes a case of an ependymoma found in the setting of tethered cord syndrome. We present a 3-month-old girl with prenatal diagnosis of lumbar meningocele who later underwent tethered cord release. After birth, she was neurologically intact and only found to have a skin-covered meningocele. Read More

J Comput Assist Tomogr 2020 Jan/Feb;44(1):65-69

From the Division of Neuroradiology, Department of Diagnostic and Interventional Imaging.

Objective: Our objective is to document the imaging appearance in the intracranial compartment at the time of the infants' first postnatal brain MR imaging after fetal repair for spinal dysraphisms.

Methods: Twenty-nine patients were evaluated on fetal and postnatal magnetic resonance imaging for a series of features of Chiari II malformation.

Results: Of the 29 infants, 55% had resolution of tonsillar ectopia, and 62% showed a dorsal outpouching of the near the foramen magnum on postnatal magnetic resonance imaging. Read More

Childs Nerv Syst 2020 07 29;36(7):1507-1513. Epub 2019 Oct 29.

Department of Neurosurgery, Hospital das Clínicas, School of Medicine, University of São Paulo, Street Eneas de Carvalho, 155, Pinheiros-, São Paulo, São Paulo, Brazil.

Background: Myelomeningocele (MMC) is often related to hydrocephalus and Chiari malformation (CM) type 2; however, other brain abnormalities have been reported in this population. In order to better understand and quantify other forebrain abnormalities, we analyzed magnetic resonance imaging (MRI) of MMC patients treated in utero or postnatal.

Methods: Between January 2014 and March 2017, 59 MMC were treated in our hospital. Read More

Childs Nerv Syst 2019 11 9;35(11):2163-2169. Epub 2019 Sep 9.

Department of Neurosurgery, Great Ormond Street Hospital for Children, London, UK.

Purpose: Lumbosacral lipoma (LSL) is a severe occult spinal dysraphism, frequently associated with neurological, urological and orthopaedic complications. Whole spine imaging is typically performed to identify concomitant, but spatially separate, congenital anomalies. Our hypothesis: the incidence of additional, clinically significant abnormalities of the neuraxis is low; thus, imaging should be optimised at the lumbosacral region. Read More

J Neurosurg Pediatr 2019 09;24(3):217-226

As with many pathologies, the course of our understanding of the Chiari I malformation (CIM) has developed extensively over time. The early descriptions of the Chiari malformations by Hans Chiari in 1891 opened the door for future classification and research on this topic. However, even over a long timeframe, our understanding of the pathophysiology and, more importantly, treatment, remained in its infancy. Read More

Neuroimaging Clin N Am 2019 Aug 30;29(3):357-366. Epub 2019 Apr 30.

Edward B. Singleton Department of Radiology, Texas Children's Hospital, 6701 Fannin Street, Suite 470, Houston, TX 77030, USA.

Fetal spina bifida, the most common nonlethal birth defect of the central nervous system, results in substantial neurologic morbidity. The unified theory describes the complex relationship between local spinal lesions and development of Chiari 2 malformation, contributing to hydrocephalus. Prenatal ultrasonography reliably allows diagnosis, but fetal MR imaging is an important complement to identify additional brain abnormalities. Read More

Ann Hepatol 2019 Jan - Feb;18(1):246-249

Department of Intervention, First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.

Budd-Chiari syndrome (BCS) is a heterogeneous group of disorders characterized by hepatic venous outflow obstruction. Abernethy malformation is a congenital vascular malformation defined by diversion of portal blood away from the liver. Both conditions are rare vascular diseases. Read More

Childs Nerv Syst 2019 10 15;35(10):1681-1693. Epub 2019 May 15.

Department of Neurosurgery, Policlinico Tor Vergata, University Medical School, V.le Oxford, 81, 00133, Rome, Italy.

Purpose: Chiari malformation type I is identified as radiological appearance of cerebellar tonsil herniation below the foramen magnum. The wide spectrum of clinical manifestations variably associated sometimes encompasses signs and symptoms whose correlation with the malformation remains debatable. However, a correct clinical framework is relevant in tailoring the strategy of management, and in particular, establishing the appropriate surgical intervention. Read More

Childs Nerv Syst 2019 07 7;35(7):1239-1243. Epub 2019 May 7.

Department of Neurological Surgery, University of Miami Miller School of Medicine, 1095 NW 14th Terrace, Room 2-06, Miami, FL, 33136, USA.

Background: Chiari II malformation includes concomitant cerebellar tonsillar herniation, hydrocephalus, and myelomeningocele. Rarely, pediatric patients with persistent hindbrain herniation develop a new enhancing nodule at the cervicomedullary junction as adults. These new lesions may be suspicious for neoplastic growth, but it remains unclear if neurosurgical intervention is necessary. Read More

Childs Nerv Syst 2019 10 2;35(10):1785-1792. Epub 2019 May 2.

Seattle Science Foundation, Seattle, WA, USA.

Purpose: Chiari malformations (CM) have been traditionally classified into four categories: I, II, III, and IV. In light of more recent understandings, variations of the CM have required a modification of this classification.

Methods: This article discusses the presentation, diagnostics, and treatment of the newer forms of hindbrain herniation associated with the CM type I. Read More

Spine Deform 2019 01;7(1):47-52

Division of Pediatric Orthopaedic Surgery, Hospital for Special Surgery, 535 East 70th Street, New York, NY 10021, USA.

Study Design: Retrospective study with follow-up.

Objectives: The purpose of this study was to determine the incidence of intraspinal and extraspinal MRI abnormalities in a consecutive series of patients with adolescent idiopathic scoliosis (AIS) and to describe the evaluation and management of these abnormalities.

Summary Of Background Data: Indications for preoperative magnetic resonance imaging (MRI) in patients with AIS remain controversial. Read More

Pediatr Neurosurg 2019 27;54(2):116-120. Epub 2018 Nov 27.

Department of Neurosurgery, Hannover Medical School, Hannover, Germany.

We introduce a novel technique for the treatment of severe kyphosis in myelomeningocele. A 5-year-old paraplegic boy with myelomeningocele presented with severe thoracolumbar kyphosis and a chronic ulcus at the site of the gibbus. The myelomeningocele had been treated during his first week of life, and an accompanying Chiari type II malformation had been treated by ventriculoperitoneal shunting. Read More

JAMA Pediatr 2019 01;173(1):52-59

Division of Fetal and Transitional Medicine, Children's National Health System, Washington, DC.

Importance: The evolution of fetal brain injury by Zika virus (ZIKV) infection is not well described.

Objectives: To perform longitudinal neuroimaging of fetuses and infants exposed to in utero maternal ZIKV infection using concomitant magnetic resonance imaging (MRI) and ultrasonography (US), as well as to determine the duration of viremia in pregnant women with ZIKV infection and whether the duration of viremia correlated with fetal and/or infant brain abnormalities.

Design, Setting, And Participants: A cohort of 82 pregnant women with clinical criteria for probable ZIKV infection in Barranquilla, Colombia, and Washington, DC, were enrolled from June 15, 2016, through June 27, 2017, with Colombian women identified by community recruitment and physician referral and travel-related cases of American women recruited from a Congenital Zika Program. Read More