Search Our Scientific Publications & Authors

BJOG 2020 Jul 3. Epub 2020 Jul 3.

Department of Medicine and Surgery, Unit of Surgical Sciences, Obstetrics and Gynecology, 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

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 Jan 30. 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

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 Jul 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

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

Eur J Med Genet 2019 Nov 13;62(11):103578. Epub 2018 Nov 13.

University of Torino, Department of Medical Sciences, 10126, Torino, Italy.

Microphthalmia with limb anomalies (MLA, OMIM, 206920) is a rare autosomal-recessive disease caused by biallelic pathogenic variants in the SMOC1 gene. It is characterized by ocular disorders (microphtalmia or anophtalmia) and limb anomalies (oligodactyly, syndactyly, and synostosis of the 4th and 5th metacarpals), variably associated with long bone hypoplasia, horseshoe kidney, venous anomalies, vertebral anomalies, developmental delay, and intellectual disability. Here, we report the case of a woman who interrupted her pregnancy after ultrasound scans revealed a depression of the frontal bone, posterior fossa anomalies, cerebral ventricular enlargement, cleft spine involving the sacral and lower-lumbar vertebrae, and bilateral microphthalmia. Read More

Pan Afr Med J 2018 20;30:146. Epub 2018 Jun 20.

Departement of Dermatology, Military Hospital My Ismail, Meknes, Morocco.

Vitiligo is a relatively common multifactorial polygenetic dermatosis (0.5%-2% of general population) characterized by segmental or nonsegmental cutaneous depigmentation. Chiari malformation is a congenital cervico-occipital junction disease characterized by a migration of a part of the cerebellum through the foramen magnum. Read More

AJR Am J Roentgenol 2018 12 17;211(6):1376-1380. Epub 2018 Oct 17.

1 Department of Radiology and Medical Imaging, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229-3026.

Objective: The purpose of this study was to examine differences between patients with myelomeningocele and those with myelocele with respect to brain imaging findings at fetal MRI.

Materials And Methods: A single-center retrospective analysis was performed of fetal MRI examinations revealing open spinal dysraphism from 2004 through 2016 with available diagnostic postnatal spinal MR images in conjunction with neurosurgical follow-up findings. Images were reviewed by two board-certified fellowship-trained pediatric neuroradiologists. Read More

Fetal Diagn Ther 2019 17;45(4):268-274. Epub 2018 Aug 17.

Divisions of Diagnostic Imaging and Radiology, Children's National Health System, and The George Washington University School of Medicine, Washington, District of Columbia, USA.

Objectives: Chiari II malformation is a congenital abnormality characterized by a small posterior fossa with downward displacement of the hindbrain into the foramen magnum. Diffusion-weighted imaging (DWI) can be used to quantitatively characterize brain injury and physiological maturation. We aim to evaluate DWI parameters of the infra- and supratentorial brain in fetuses with Chiari II malformation. Read More

World Neurosurg 2018 Sep 7;117:e180-e186. Epub 2018 Jun 7.

Post-graduation Program, Hospital do Servidor Público Estadual, São Paulo, Brazil.

Background: For more than a century, odontoid process prolapse, which compresses cranial base structures, has been the hallmark of basilar invagination (BI). The angulation of the whole skull toward the cervical spine may be considered to contribute to BI and odontoid prolapse. The objective of this study was to evaluate the craniocervical angular craniometry of patients with BI compared with patients with Chiari malformation (CM) and normal subjects. Read More

J Neurosurg Pediatr 2018 07 27;22(1):52-60. Epub 2018 Apr 27.

1Department of Neurosurgery, University of Iowa Carver College of Medicine.

OBJECTIVE Syringobulbia (SB) is a rare entity, with few cases associated with Chiari malformation type I (CM-I) in the pediatric population. The authors reviewed all pediatric cases of CM-I-associated SB managed at their institution in order to better understand the presentation, treatment, and surgical outcomes of this condition. METHODS A prospectively maintained institutional database of craniovertebral junction abnormalities was analyzed to identify all cases of CM-I and SB from the MRI era (i. Read More

J Neurosurg Pediatr 2018 06 9;21(6):574-577. Epub 2018 Mar 9.

5Neurosurgery, Children's Hospital of Pittsburgh, Pennsylvania.

Myelomeningocele and gastroschisis, on their own, are both relatively common entities encountered in pediatric surgical care. Coexistence of these pathologies, however, is exceedingly rare. The authors report on 2 patients who presented with myelomeningocele and gastroschisis at birth. Read More

Clin Anat 2018 Apr 20;31(3):314-322. Epub 2018 Feb 20.

Department of Anatomical Sciences, St. George's University, Grenada.

In 1891, Hans Chiari described a group of congenital hindbrain anomalies, which were eventually named after him. He classified these malformations into three types (Chiari malformations I, II, and III), and four years later added the Chiari IV malformation. However, numerous reports across the literature do not seem to fit Chiari's original descriptions of these malformations, so researchers have been encouraged to propose new classifications to encompass these variants (e. Read More

Z Geburtshilfe Neonatol 2017 Oct 26;221(5):243-246. Epub 2017 Oct 26.

Neonatology, University Children's Hospital, Würzburg, Germany.

Fetal exposition to valproate can lead to a cluster of facial dysmorphism, congenital anomalies and neurodevelopmental retardation. In this report we describe 2 cases of fetal valproate syndrome. In the first case, the gravida had a valproate medication before and during pregnancy with additional folic acid. Read More

J Clin Diagn Res 2017 Aug 1;11(8):TC17-TC22. Epub 2017 Aug 1.

Professor, Department of Radiodiagnosis, Pramukhswami Medical College and Shree Krishna Hospital, Gokal Nagar, Karamsad, Anand, Gujarat, India.

Introduction: Spinal dysraphism occurs due to failure of fusion of parts along dorsal aspect of midline structures lying along spinal axis from skin to vertebrae and spinal cord. Congenital spinal anomalies may be minimal and asymptomatic like spinal bifida occulta, or severe with marked neurological deficits like Arnold-Chiari malformation or caudal regression syndrome. Magnetic Resonance Imaging (MRI) is the modality of choice to diagnose mild to severe spinal dysraphism. Read More

J Neurosurg Pediatr 2017 Nov 8;20(5):432-438. Epub 2017 Sep 8.

Radiology, and.

OBJECTIVE Placement of a cerebrospinal fluid diversion device (i.e., shunt) is a routine pediatric neurosurgical procedure, often performed in the first weeks of life for treatment of congenital hydrocephalus. Read More

Birth Defects Res 2017 Nov 31;109(19):1586-1595. Epub 2017 Jul 31.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP, Paris, France.

Background: Fetal cerebral ventricular dilatation (CVD) is a common abnormal prenatal finding that often predicts a poor prognosis. The etiology involves both genetic and nongenetic factors with diverse pathogenic mechanisms. We describe the neuropathological features of CVD in a large cohort of fetuses. Read More

Clin Anat 2018 Mar 4;31(2):202-215. Epub 2017 Dec 4.

Department of Anatomical Sciences, St. George's University, School of Medicine Grenada, West Indies.

Although the Chiari malformations are well-studied and described developmental anomalies, there remains some incongruity in regards to their underlying etiologies. A number of theories have been proposed with the purpose of accounting for the embryology and pathogenesis of the Chiari I and II malformations and their associated complications and clinical syndromes. The present review aims to review the pertinent literature for all of the main theories that have been proposed, and outline their validity and relevance to our contemporary understanding of these anomalies. Read More

Neurosurg Clin N Am 2017 Jul 24;28(3):439-448. Epub 2017 Mar 24.

Neurosurgery Department, Nationwide Children's Hospital, FB, Suite 4 A.2, 700 Children's Drive, Columbus, Ohio 43205, USA. Electronic address:

Myelomeningocele (MMC) is a costly lifetime disease with many comorbidities, including sensory and motor lower limb disability, bladder/bowel dysfunction, scoliosis, club foot, and hydrocephalus. MMC treatment options have changed over time because routine use of fetal ultrasonography and MRI has provided prenatal diagnosis and the potential for fetal surgery. There is still no consensus on how to treat the MMC diagnoses prenatally, mainly related to the infrastructure required to operate on pregnant patients. Read More

Childs Nerv Syst 2017 Jul 7;33(7):1083-1099. Epub 2017 Jun 7.

Department of Neurosurgery, Clinica Las Condes, Santiago, Chile.

Accurate and timely prenatal diagnosis of spina bifida (SB) is a major goal of modern antenatal care. Prenatal screening for open SB should be first performed at the time of routine first-trimester ultrasound by examining the posterior fossa for obliteration or non-visualization of the fourth ventricle ("intracranial translucency") and cisterna magna. The second step of screening is the second-trimester anatomy scan, at which time the features of the Chiari type II malformation should be looked for, including ventriculomegaly, scalloping of the frontal bones ("lemon" sign), and backward and caudal displacement of the cerebellar vermis with obliteration of the cisterna magna ("banana" sign). Read More

Eur Radiol 2017 Nov 12;27(11):4571-4580. Epub 2017 May 12.

Department of Diagnostic Imaging, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

Objectives: To describe characteristics of foetuses undergoing in utero repair of open neural tube defects (ONTD) and assess postoperative evolution of posterior fossa and brain morphology.

Methods: Analysis of pre- and postoperative foetal as well as neonatal MRI of 27 foetuses who underwent in utero repair of ONTD. Type and level of ONTD, hindbrain configuration, posterior fossa and liquor space dimensions, and detection of associated findings were compared between MRI studies and to age-matched controls. Read More

Int J Pediatr Otorhinolaryngol 2017 Jun 4;97:163-169. Epub 2017 Apr 4.

Cohen Childrens Medical Center, Hofstra Northwell School of Medicine, 500 Hofstra Blvd, Hempstead, NY 11549, United States; Children's Hospital of Pennsylvania, 3401 Civic Center Blvd, Philadelphia, PA 19104, United States. Electronic address:

Objective: Virtual Surgical Planning (VSP) and computer-aided design/computer-aided manufacturing (CAD/CAM) have recently helped improve efficiency and accuracy in many different craniofacial surgeries. Research has mainly focused on the use in the adult population with the exception of the use for mandibular distractions and cranial vault remodeling in the pediatric population. This study aims to elucidate the role of VSP and CAD/CAM in complex pediatric craniofacial cases by exploring its use in the correction of midface hypoplasia, orbital dystopia, mandibular reconstruction, and posterior cranial vault expansion. Read More

Childs Nerv Syst 2017 Jul 3;33(7):1157-1168. Epub 2017 May 3.

Division of Maternal Fetal Medicine, Department of Obstetrics, Gynecology and Women's Health, Saint Louis University School of Medicine, Saint Louis Fetal Care Institute, SSM Health Cardinal Glennon Children's Hospital, Saint Louis, MO, USA.

Introduction: The published results of the Management of Myelomeningocele Study (MOMS) trial in 2011 showed improved outcomes (reduced need for shunting, decreased incidence of Chiari II malformation, and improved scores of mental development and motor function) in the fetal prenatal repair group compared to the postnatal group. Historically, endoscopic third ventriculostomy (ETV) remains as a controversial hydrocephalus treatment option with high failure rates in pediatric patients with a history of myelomeningocele (MMC). We report hydrocephalus treatment outcomes in the fetal in-utero myelomeningocele repair patients who underwent repair at our Saint Louis Fetal Care Institute following the MOMS trial. Read More

Ultrasound Obstet Gynecol 2017 Dec 8;50(6):745-752. Epub 2017 Nov 8.

Leeds Teaching Hospitals NHS Trust, Leeds, UK.

Objective: To assess the diagnostic and clinical contribution of fetal magnetic resonance imaging (MRI) in fetuses of the MERIDIAN cohort diagnosed with abnormalities of the posterior fossa as the only intracranial abnormality recognized on antenatal ultrasound.

Methods: This was a subgroup analysis of the MERIDIAN study of fetuses with abnormalities of the posterior fossa (with or without ventriculomegaly) diagnosed on antenatal ultrasound in women who had MRI within 2 weeks of ultrasound and for whom outcome reference data were available. The diagnostic accuracy of ultrasound and MRI is reported, as well as indicators of diagnostic confidence and effects on prognosis and clinical management. Read More

JAMA Otolaryngol Head Neck Surg 2017 07;143(7):651-655

Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts2Department of Otolaryngology, Harvard Medical School, Boston, Massachusetts.

Importance: Referral to a neurologist and imaging play important roles in the management of laryngeal cleft. Swallowing involves a complex series of neuromuscular interactions, and aspiration can result from anatomical causes (eg, laryngeal cleft), neuromuscular disorders, or some combination thereof. To date, no protocols or guidelines exist to identify which patients with laryngeal cleft should undergo neuroimaging studies and/or consultation with a neurologist. Read More

AJNR Am J Neuroradiol 2017 May 9;38(5):1031-1036. Epub 2017 Mar 9.

From the Department of Radiology and Medical Imaging (B.Z., B.M.K.-F.).

Background And Purpose: As the practice of in utero repair of myelomeningoceles becomes more prevalent, knowledge of the expected MR imaging findings has become increasingly important. Our aim was to examine neuroimaging findings with a focus on hindbrain herniation and ventricular size in fetuses with open spinal dysraphism and to compare them with postnatal imaging features in groups undergoing prenatal-versus-postnatal repair.

Materials And Methods: Single-center retrospective analysis was performed on MRIs of fetuses with open spinal dysraphism from January 2004 through July 2015 with available postnatal imaging. Read More

Surg Neurol Int 2017 19;8:10. Epub 2017 Jan 19.

Department of Anesthesiology, Advocate Illinois Masonic Medical Center, Chicago, Illinois, USA; Department of Anesthesiology, University of Illinois, Chicago, Illinois, USA.

Background: Arnold-Chiari malformation Type 1 (ACM-1) in parturients is a topic of ongoing discussion between obstetricians and anesthesiologists. The primary unanswered question remains; How should the anesthesia provider proceed with labor analgesia and anesthesia for cesarean section when confronted with an advanced, asymptomatic, or minimally symptomatic case of ACM-1 during labor?

Case Description: A 24-year-old, ASA II, G1P0 full-term parturient presented to Labor and Delivery for vaginal delivery. A diagnosis of ACM-1 was made 12 years ago when a brain magnetic resonance imaging (MRI) was performed for right-sided numbness following a rear-end motor vehicle collision. Read More

Pan Afr Med J 2016 3;24:293. Epub 2016 Aug 3.

Service d'Ophtalmologie, CHU Mohammed VI, Oujda, Maroc.

Arnold Chiari malformation type 1 is defined as a herniation of the cerebellar tonsils into the foramen magnum of more than 5 mm. Symptoms are most commonly dominated by occipital headache, torticollis and sometimes swallowing disorders. Ophthalmologically abnormal convergences, oculomotor palsy and diplopia are the main clinical signs. Read More

PLoS One 2017 25;12(1):e0170315. Epub 2017 Jan 25.

School of Veterinary Medicine, Faculty of Health & Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.

Objectives: To characterise the symptomatic phenotype of Chiari-like malformation (CM), secondary syringomyelia (SM) and brachycephaly in the Cavalier King Charles Spaniel using morphometric measurements on mid-sagittal Magnetic Resonance images (MRI) of the brain and craniocervical junction.

Methods: This retrospective study, based on a previous quantitative analysis in the Griffon Bruxellois (GB), used 24 measurements taken on 130 T1-weighted MRI of hindbrain and cervical region. Associated brachycephaly was estimated using 26 measurements, including rostral forebrain flattening and olfactory lobe rotation, on 72 T2-weighted MRI of the whole brain. Read More

PLoS One 2017 25;12(1):e0169898. Epub 2017 Jan 25.

School of Veterinary Medicine, Faculty of Health & Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.

Objectives: To characterize and compare the phenotypic variables of the hindbrain and craniocervical junction associated with syringomyelia (SM) in the Chihuahua, Affenpinscher and Cavalier King Charles Spaniel (CKCS).

Method: Analysis of 273 T1-weighted mid-sagittal DICOM sequences of the hindbrain and craniocervical junction from 99 Chihuahuas, 42 Affenpinschers and 132 CKCSs. The study compared 22 morphometric features (11 lines, eight angles and three ratios) of dogs with and without SM using refined techniques based on previous studies of the Griffon Bruxellois (GB) using Discriminant Function Analysis and ANOVA with post-hoc corrections. Read More

J Back Musculoskelet Rehabil 2017 ;30(2):387-391

Background: The syrinx can occur in any region of the spinal cord and is common in cervical and/or thoracic region, and distributing along spinal cord is unusual, especially association with Chiari II malformation and scoliosis.

Objective: To report a first case of entire syringomyelia associated with Chiari II malformation and severe scoliosis and hydrocephalus.

Case Presentation: The patient began to experience symptoms of bilateral hand weakness in adulthood. Read More

J Reprod Med 2016 Nov-Dec;61(11-12):609-11

Background: Folate supplementation in women of reproductive age has a well-established role in the prevention of neural tube defects. Methotrexate is a commonly used drug which functions by inhibiting normal folate metabolism in active cells. An association between fetal methotrexate exposure and myelomeningocele might be expected, considering this relationship. Read More

J Med Imaging Radiat Oncol 2017 Apr 21;61(2):185-189. Epub 2016 Oct 21.

Department of Medical Imaging, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.

Introduction: The antenatal diagnosis of open spina bifida (OSB), a neural tube defect, is predominantly made at the second trimester morphology scan by ultrasound detection of structural abnormalities resulting from the associated Chiari II malformation. Evidence has emerged suggesting that these structural abnormalities can be detected earlier, by examination of the posterior fossa as part of the first trimester nuchal translucency scan. In particular, absence of the intra-cranial translucency (IT) of the fourth ventricle has shown promise as a diagnostic marker of OSB, although the sensitivity and specificity of this finding varies widely in the literature. Read More

Handb Clin Neurol 2016 ;136:1121-37

Division of Neuroradiology, Department of Radiology, University of North Carolina, Chapel Hill, NC, USA. Electronic address:

In this chapter we briefly address the most common congenital brain and spinal anomalies as well as their most salient imaging, especially magnetic resonance, findings. Some of them, such as Chiari II, and open spinal defects, have become relatively rare due to their detection in utero and repair of the spinal malformation. Regardless of the type of brain anomaly, the most common clinical symptoms are mental retardation, hydrocephalus, and seizure; the latter two may need to be surgically and medically addressed. Read More

Neuroimaging Clin N Am 2016 Aug;26(3):359-72

Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, Charlotte R. Bloomberg Children's Center, The Johns Hopkins University School of Medicine, Sheikh Zayed Tower, Room 4174, 1800 Orleans Street, Baltimore, MD 21287-0842, USA.

There is increasing evidence that the cerebellum is susceptible to prenatal infections and hemorrhages and that congenital morphologic anomalies of the cerebellum may be caused by disruptive (acquired) causes. Starting from the neuroimaging pattern, this report describes a spectrum of prenatal cerebellar disruptions including cerebellar agenesis, unilateral cerebellar hypoplasia, cerebellar cleft, global cerebellar hypoplasia, and vanishing cerebellum in Chiari type II malformation. The neuroimaging findings, possible causative disruptive events, and clinical features of each disruption are discussed. Read More

Semin Fetal Neonatal Med 2016 10 12;21(5):339-48. Epub 2016 May 12.

Section of Pediatric Neuroradiology and Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:

The vulnerability of the cerebellum during prenatal life to disruptive events such as hemorrhage and infection leads to a wide variety of morphological abnormalities. This review discusses various prenatal cerebellar disruptions including cerebellar agenesis, unilateral cerebellar hypoplasia, cerebellar cleft, global cerebellar hypoplasia, and vanishing cerebellum in Chiari type II malformation. For each entity, we discuss the definition, potential pathomechanism, clinical findings including neurocognitive and behavioral problems, neuroimaging features, and management. Read More

Childs Nerv Syst 2016 Jul 16;32(7):1281-7. Epub 2016 Apr 16.

Neurosurgical Department, Asklepios Children's Hospital, Arnold-Janssen Straße 29, 53757, Sankt Augustin, Germany.

Background: After the introduction of folate supplementation, the number of open spinal dysraphism was successfully reduced over time. In 2007, the department for pediatric neurosurgery was established in the children's hospital. Since then, newborns with myelomeningocele (MMC), the most common form of open neural tube defects (NTD), are treated here. Read More

Childs Nerv Syst 2016 Jun 2;32(6):1069-78. Epub 2016 Mar 2.

Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.

Purpose: To document long-term morphological changes of Chiari type II malformation (CM-II) following closure of spina bifida manifesta (SBM).

Methods: We retrospectively evaluated postnatal magnetic resonance images of the CM-II and posterior fossa (PF) in 28 consecutive cases. We measured changes in vertebral level and length of the cerebellar peg (CP), cerebrospinal fluid (CSF) spaces anterior and posterior to the cerebrospinal junction, PF area, and the anteroposterior diameters of the foramen magnum (FM) and C1 vertebra. Read More

Childs Nerv Syst 2016 Mar 12;32(3):527-30. Epub 2016 Jan 12.

Pediatric Neurosurgery, Children's of Alabama, Birmingham, AL, USA.

Background: In the past, diagnosis of the Chiari I malformation has primarily been made on midsagittal MRI. We hypothesized that based on the frequent presentation of opisthotonos in patients with hindbrain hernia (primarily Chiari II malformation but sometimes Chiari I malformation) that the hyperextension might be a compensatory technique used by such patients to bring the cerebellar tonsils up out of the cervical spine.

Patients And Methods: This prospective study reviewed imaging of patients with Chiari I malformation who underwent flexion/extension MRI for evaluation of their hindbrain herniation. Read More