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J Clin Ultrasound 2022 Jun 22. Epub 2022 Jun 22.

Department of Fetal Medicine, Madhukar Rainbow Children's Hospital, and BirthRight by Rainbow Hospitals, New Delhi, India.

Antenatal posterior fossa cystic lesions are intimidating due to overlapping imaging features of benign and severe malformations. Sonographic assessment of the posterior fossa with good resolution median sagittal and axial views, either primary or secondarily reconstructed, plays the lead role in antenatal evaluation, further enhanced when sequential assessments are added. We present 10 cases of fetal posterior fossa cystic lesions diagnosed in the first and second trimesters that were sequentially analyzed and followed up till delivery or termination. Read More

SAGE Open Med Case Rep 2022 7;10:2050313X221103355. Epub 2022 Jun 7.

Ambulatory Program-Urgent Consultation Service and Consultation Liaison Psychiatry, London Health Sciences Centre (LHSC), Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, Canada.

Dandy-Walker malformation is a group of brain malformations that sometimes present with psychotic features, violent and impulsive behavior, or mood symptoms. Here, we present a case report of a patient with Dandy-Walker malformation who presented with intermittent explosive disorder. A young man, aged 18 years, was brought to the author's hospital [Hamad Medical Corporation] with anger outbursts, irritable mood, and violent behavior. Read More

Neurosurg Focus 2022 05;52(5):E8

2Department of Neurological Surgery, Rutgers New Jersey Medical School, Newark, New Jersey.

Objective: Neurocutaneous melanocytosis (NCM), also referred to as neurocutaneous melanosis, is a rare neurocutaneous disorder characterized by excess melanocytic proliferation in the skin, leptomeninges, and cranial parenchyma. NCM most often presents in pediatric patients within the first 2 years of life and is associated with high mortality due to proliferation of melanocytes in the brain. Prognosis is poor, as patients typically die within 3 years of symptom onset. Read More

Annu Rev Neurosci 2022 Apr 19. Epub 2022 Apr 19.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA; email:

Developmental abnormalities of the cerebellum are among the most recognized structural brain malformations in human prenatal imaging. Yet reliable information regarding their cause in humans is sparse, and few outcome studies are available to inform prognosis. We know very little about human cerebellar development, in stark contrast to the wealth of knowledge from decades of research on cerebellar developmental biology of model organisms, especially mice. Read More

Int Med Case Rep J 2022 15;15:55-59. Epub 2022 Feb 15.

Microbiology Department, Kabul University of Medical Sciences, Kabul, 1001, Afghanistan.

Dandy-Walker syndrome (DWS) is a rare congenital malformation characterized by hypoplasia of the cerebellar vermis and its upward rotation and cystic enlargement of the fourth ventricle. The clinical manifestations include psychomotor retardation, ataxia and hydrocephalus. We report a case of 16-year-old female patient in Ali Abad Teaching Hospital who was suffering from unsteady gait, memory deterioration and urinary incontinence. Read More

PLoS One 2022 24;17(2):e0263535. Epub 2022 Feb 24.

Mother Infant Research Institute, Tufts Medical Center, Boston, Massachusetts, United States of America.

Dandy-Walker malformation (DWM) is a common prenatally diagnosed cerebellar malformation, characterized by cystic dilatation of the fourth ventricle, upward rotation of the hypoplastic vermis, and posterior fossa enlargement with torcular elevation. DWM is associated with a broad spectrum of neurodevelopmental abnormalities such as cognitive, motor, and behavioral impairments, which cannot be explained solely by cerebellar malformations. Notably, the pathogenesis of these symptoms remains poorly understood. Read More

J Pak Med Assoc 2021 Dec;71(Suppl 8)(12):S190

Al-Mustansiriya University, Baghdad, Iraq.

To assess the effectiveness of MRI in identifying the spectrum of corpus callosum anomalies in epileptic paediatric patients, a descriptive case series was studied in the General Paediatric Hospital, Baghdad from March 2017 to March 2020.A total of 52 patients with ages ranging from 4 months to 14 years were included. The Imaging criteria included MRI evaluation showing spectrum of anomalies involving the corpus callosum with malformation of cortical development, lipoma, Dandy Walker syndrome and Chiari malformation. Read More

Asian J Neurosurg 2021 Oct-Dec;16(4):850-853. Epub 2021 Dec 18.

Department of Neurosurgery, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.

This report describes a very rare Dandy-Walker malformation (DWM) associated with neurofibromatosis (NF) and bony defect over torcula emphasizing the role of meticulous follow-up for asymptomatic DWM. The clinical aspects of an adolescent patient with undiagnosed DWM who was asymptomatic until the age of 14 years are being discussed. Computed tomography and magnetic resonance imaging were revealed DWM. Read More

J Yeungnam Med Sci 2022 Jan 15;39(1):58-61. Epub 2021 Apr 15.

Department of Psychiatry, Faculty of Medicine, Sakarya University, Sakarya, Turkey.

Mega cisterna magna (MCM), one of the members of the Dandy-Walker complex, is a developmental malformation of the posterior fossa that is larger than 10 mm but morphologically does not affect the vermis and cerebellar hemispheres. Reports of psychiatric disorders associated with this anomaly are rare. We present the case of a patient with MCM who presented with a psychotic manic attack and was diagnosed with bipolar disorder. Read More

Prenat Diagn 2022 04 31;42(4):469-477. Epub 2022 Jan 31.

Department of Obstetrics and Gynecology, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.

Objective: To investigate prenatal manifestations of Emanuel syndrome (ES) by retrospectively analyzing the results of prenatal diagnosis.

Methods: Thirteen fetuses were collected from five hospitals, of which six were confirmed with 47,der(22)t(11;22; ES) by karyotype and chromosomal microarray analysis (CMA). Seven were diagnosed with 46,t(11;22) balanced translocations by karyotype, including one de novo mosaic 46,XX,t(11;22). Read More

Int J Surg Case Rep 2022 Jan 20;90:106702. Epub 2021 Dec 20.

Department of Pediatric Surgery, Department of Otolaryngology Head and Neck Surgery, Ministry of the National Guard - Health Affairs, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

Introduction: Dandy-Walker syndrome is a rare congenital brain malformation characterized by cerebellar vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a large posterior fossa causing upward displacement of tentorium and torcula. In this paper, we present a case of bilateral choanal atresia with Dandy-Walker Syndrome in a female newborn.

Case Presentation: We present a case of a female patient who was born at 38th weeks of gestation via emergency cesarean section due to non-reassuring cardiotocography and abnormal antenatal ultrasounds findings. Read More

Int J Appl Basic Med Res 2021 Oct-Dec;11(4):277-279. Epub 2021 Nov 17.

Department of Pediatrics, SGRDIMSR, SGRDUHS, Amritsar, Punjab, India.

Dandy-Walker Syndrome (D-WS) is a rare disorder with an incidence of 1%-2% of all central nervous system anomalies. The diagnosis can be challenging, especially in the prenatal period. Here, we present an extremely rare case of D-WS associated with bilateral congenital cataracts. Read More

J Child Neurol 2021 10 10;36(12):1111-1119. Epub 2021 Nov 10.

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

Dandy-Walker continuum, which includes Dandy-Walker malformation, vermian hypoplasia, and Blake pouch cyst, is among the most commonly diagnosed posterior fossa malformation by fetal magnetic resonance imaging (MRI). The objective of our retrospective study was to evaluate fetal and postnatal MRI scan and clinical outcomes. Seventy-two patients were identified; 40 patients had postnatal imaging and follow-up (7 Dandy-Walker malformation, 26 vermian hypoplasia, and 7 Blake pouch cyst). Read More

BMC Pediatr 2021 09 13;21(1):398. Epub 2021 Sep 13.

Department of Pediatric Intensive Care Unit, The First Hospital of Jilin University, Xin Min Street, 130021, Changchun, China.

Background: Methylmalonic acidemia is an organic acid metabolism disorder that usually has nonspecific clinical manifestations.

Case Presentation: A 3-month-old female infant was admitted to the hospital for developmental retardation. Her prenatal and birth history was unremarkable. Read More

J Assoc Physicians India 2021 Apr;69(4):11-12

Junior Resident,Department of Medicine, MIMER Medical College, Talegaon, Maharashtra.

Dandy-Walker variant consists of vermian hypoplasia and cystic dilatation of the fourth ventricle, without enlargement of the posterior fossa is a distinctive entity believed to represent a mild subtype of Dandy-Walker complex. We report a case of 66 year male presented with right sided hemiparesis due to ischemic stroke whose imaging showed incidental findings Dandy walker variant. This Incidental Dandy Walker malformation finding in adult is rare with only a few cases reported till date. Read More

Childs Nerv Syst 2021 11 14;37(11):3437-3445. Epub 2021 Aug 14.

Department of Pediatric Surgery, Division of Pediatric Neurosurgery, Figueira National Institute of Health for Women, Children and Adolescents, Oswaldo Cruz Foundation (IFF-Fiocruz), Rio de Janeiro, Brazil.

Introduction: Encephaloceles are rare congenital malformations of the central nervous system in which brain tissue is extruded from a defect in the skull. Hydrocephalus can occur in 60 to 90% of patients with posterior encephaloceles when compared to other types of this malformation. This article aims to present a series of posterior encephaloceles and its association with hydrocephalus as well as promote a review of the pertinent literature. Read More

Clin Nephrol 2021 Oct;96(4):243-250

The retinitis pigmentosa -GTPase regulator interacting protein 1-like gene encodes a ciliary protein essential for basic embryonic development. Biallelic variants of ; cause Joubert syndrome (JS) with renal defects. In addition to characteristic JS features (cerebellar and brain stem malformations, developmental delays, hypotonia, irregular breathing patterns, eye movement abnormalities, ataxia, and intellectual disability), affected individuals typically also exhibit renal disorders, such as cystic kidney disease and nephronophthisis. Read More

AJNR Am J Neuroradiol 2021 09 15;42(9):1716-1721. Epub 2021 Jul 15.

Neurology (P.S.H., C.V.), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Background And Purpose: Dandy-Walker malformation, vermian hypoplasia, and Blake pouch remnant represent a continuum of anomalies and are common reasons for referral for fetal MR imaging. This study aimed to determine biometric measurements that quantitatively delineate these 3 posterior fossa phenotypes.

Materials And Methods: Our single-center institutional review board approved a retrospective analysis of all fetal MRIs for posterior fossa malformations, including Dandy-Walker malformation, vermian hypoplasia, and Blake pouch remnant. Read More

Fetal Diagn Ther 2021 28;48(6):485-492. Epub 2021 Jun 28.

Fetal Medicine Unit, Di Venere and Sarcone Hospitals, Bari, Italy.

Introduction: The objective of the study was to provide more detailed data about fetal isolated upward rotation of the cerebellar vermis rotation (Blake's pouch cyst) in particular regarding pregnancy outcome.

Methods: This is a retrospective study of all cases of fetal isolated upward rotation of the cerebellar vermis (URCV) diagnosed in 3 referral centers in Italy from January 2009 to November 2019. Whenever possible, prenatal magnetic resonance imaging (MRI) was performed and a fetal karyotype was obtained. Read More

Ultrasound Obstet Gynecol 2021 Oct;58(4):568-575

Department of Clinical Science and Community Health, University of Milan, Milan, Italy.

Objective: To describe the sonographic appearance and position of the choroid plexus of the fourth ventricle (4V-CP) between 12 and 21 weeks' gestation in normal fetuses and in fetuses with Dandy-Walker malformation (DWM) or Blake's pouch cyst (BPC).

Methods: The study population comprised 90 prospectively recruited normal singleton pregnancies and 41 pregnancies identified retrospectively from our institutional database that had a suspected posterior fossa anomaly at 12-13 weeks' gestation based on the ultrasound finding of abnormal hindbrain spaces. In all cases the final diagnosis was confirmed by prenatal and/or postnatal magnetic resonance imaging or postmortem examination. Read More

Pediatr Radiol 2021 Jul 30;51(8):1457-1470. Epub 2021 Mar 30.

Prenatal Pediatrics Institute, Children's National Hospital, Washington, DC, USA.

Background: Dandy-Walker malformation and Blake pouch cysts can have overlapping imaging features. The choroid plexus and associated taenia-tela choroidea complex are displaced inferolaterally in Dandy-Walker malformation and below the vermis in Blake pouch cysts.

Objective: To determine the normal fetal and postnatal MR appearance of the choroid plexus and taenia-tela choroidea complex, and whether their location can help distinguish Dandy-Walker malformation from Blake pouch cysts. Read More

Pediatr Neurol 2021 04 10;117:10-18. Epub 2021 Jan 10.

Prenatal Pediatrics Institute, Children's National Hospital, Washington, District of Columbia; Department of Neurology, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia; Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia.

Background: Posterior fossa anomalies can be diagnostic dilemmas during the fetal period. The prognosis for different diagnoses of the posterior fossa varies widely. We investigated whether fetal magnetic resonance imaging (MRI) and prenatal neurology consultation led to an alternate prognosis for fetuses referred due to concern for a fetal posterior fossa anomaly and concordance between pre- and postnatal diagnoses. Read More

Am J Med Genet A 2021 03 27;185(3):945-948. Epub 2020 Dec 27.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Pathogenic heterozygous variants in PIEZO2 typically cause distal arthrogryposis type 5 (DA5) and the closely related Gordon syndrome (GS). Only one case of PIEZO2-related Marden-Walker syndrome (MWS) has been reported to date. We report the phenotypic features of a Saudi female patient with features consistent with MWS in whom we identified a novel de novo likely pathogenic variant in PIEZO2. Read More

JAAPA 2021 Jan;34(1):22-24

Eric Hochberg and Erin Niles practice in the Lung Rescue Unit, an adult veno-venous extracorporeal membrane oxygenation unit at the University of Maryland's R Adams Cowley Shock Trauma Center in Baltimore, Md. The authors have disclosed no potential conflicts of interest, financial or otherwise.

Abstract: Dandy-Walker malformation is a rare congenital anomaly affecting the posterior fossa, occurring in one in 30,000 births. Its hallmark characteristics include hypoplasia of the vermis, dilation of the fourth ventricle, and an enlarged posterior fossa. This case study describes a finding of Dandy-Walker malformation during a workup of encephalopathy in a patient on veno-venous extracorporeal membrane oxygenation for acute respiratory distress syndrome. Read More

World Neurosurg 2021 02 24;146:e1063-e1070. Epub 2020 Nov 24.

Department of Pediatric Neurosurgery, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Introduction: Neurocutaneous melanosis (NCM) is a rare congenital syndrome. Except for some retrospective studies, information on clinical follow-up and management of these patients are limited. This study aimed to review our experience on diagnostic protocol and clinical follow-up of patients with NCM in a referral children's hospital in Iran. Read More

Am J Med Genet A 2021 09 18;185(9):2690-2718. Epub 2020 Nov 18.

Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, Minnesota, USA.

Twins have an increased risk for congenital malformations and disruptions, including defects in brain morphogenesis. We analyzed data on brain imaging, zygosity, sex, and fetal demise in 56 proband twins and 7 less affected co-twins with abnormal brain imaging and compared them to population-based data and to a literature series. We separated our series into malformations of cortical development (MCD, N = 39), cerebellar malformations without MCD (N = 13), and brain disruptions (N = 11). Read More

Am J Obstet Gynecol 2020 12 7;223(6):B38-B41. Epub 2020 Nov 7.

Am J Obstet Gynecol 2020 12 7;223(6):B30-B33. Epub 2020 Nov 7.

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

BJOG 2021 01 25;128(2):354-365. Epub 2020 Oct 25.

Institut méditerranéen d'imagerie médicale appliquée à la gynécologie, la grossesse et l'enfance IMAGE2, Marseille, France.

Background: The significant number of qualitative and quantitative ultrasound markers described for first-trimester screening of open spina bifida (OSB) and other posterior brain defects (oPBD) has resulted in their complex implementation and interpretation for a widespread screening and in a lack of consensus regarding diagnostic accuracy.

Objectives: To assess and compare the accuracy of qualitative and quantitative cranial sonographic markers at 11-14 weeks of gestation for the detection of OSB and oPBD.

Search Strategy: A systematic literature search was performed in MEDLINE and COCHRANE from 2009 to April 2020. Read More