61. Ae DandyWalker Malformation, agenesis of Corpus Callosum, and Gray Matter Heterotopia.Findings The corpus callosum and cerebellar vermis are absent. http://www.med.uc.edu/neurorad/webpage/dda.html

Dandy-Walker Malformation, Agenesis of Corpus Callosum, and Gray Matter Heterotopia Findings: The corpus callosum and cerebellar vermis are absent. The lateral ventricles have a parallel configuration and are lined with scattered nodules of tissue that are isointense to gray matter. Discussion: Callosal agenesis and heterotopias are discusssed elsewhere (unknowns #39, #85). Dandy Walker complex is thought to be caused by developmental atresia of the fourth ventricular foramina with resultant variable hypoplasia of the cerebellar vermis and a posterior fossa cyst which communicates with the fourth ventricle. The malformation is not inherited, but has numerous associations as follows: -macrocephaly, developmental delay, other non CNS anomalies -aqueductal stenosis, Aicardi syndrome, holoprosencephaly -occipital encephalocele -hydrocephalus (80%), migrational anomalies (5-10%) -Klippel-Feil, callosal agenesis (30%), Ellis van Creveld, others The classic Dandy Walker malformation is associated with torcular-lambdoid inversion, but this is not specific. Dandy Walker variants are more common, are characterized by a more benign course with variable hypoplasia of the vermis, and are not associated with T-L inversion BACK TO UNKNOWNS BACK TO CATEGORIES HOME

62. Upper Motor Neuron System Hypotonia is characterized by agenesis or hypoplasia of the cerebellar vermis and cystic cisterna magna and hypoplasia or agenesis of the cerebellar vermis. http://pediatricneuro.com/alfonso/pg117.htm

MainMenu Back Next Index The most common cerebellar lesions that cause neonatal hypotonia are Dandy-Walker syndrome, Joubert syndrome, and rhomboencephaloclasis. Cerebellar atrophy may also occur with fetal alcohol syndrome, cytomegalovirus infection, and hypothyroidism. Dandy-Walker Malformation Dandy-Walker malformation is most likely due to slow flow of cerebrospinal fluid from the fourth ventricle to the cisterna magna. Dandy-Walker malformation is characterized by agenesis or hypoplasia of the cerebellar vermis and cystic dilation of the posterior fossa (Figure 117.1). Figure 117.1. — Schematic representation of Dandy-Walker malformation. Large posterior fossa due to a large cisterna magna and hypoplasia or agenesis of the cerebellar vermis. The tentorium is positioned high because of the large size of the posterior fossa (Figure 117.2). Apneic spells and nystagmus may occur. Macrocephaly with prominent occiput may be present. Other congenital brain abnormalities that occur in association with Dandy-Walker syndrome are agenesis of the corpus callosum, neuronal heterotopia, and aqueductal stenosis. Hydrocephalus is not present at birth but usually develops after 3 months of age. Magnetic resonance imaging of the brain is diagnostic (Figure 117.2). A B Figure 117.2.

63. CENTRAL NERVOUS SYSTEM - DIAGNOSIS OF FETAL ABNORMALITIES - THE 18-23 or partial agenesis of the cerebellar vermis and enlarged posterior fossa), Prenatal diagnosis of isolated partial agenesis of the vermis is http://www.centrus.com.br/DiplomaFMF/SeriesFMF/18-23-weeks/chapter-02/chapter-02

Central Nervous System Handbook of Fetal Abnormalities Algorithms Appendix CENTRAL NERVOUS SYSTEM NORMAL SONOGRAPHIC ANATOMY The fetal brain undergoes major developmental changes throughout pregnancy. At 7 weeks of gestation, a sonolucent area is seen in the cephalic pole, presumably representing the fluid-filled rhombencephalic vesicle. At 9 weeks, demonstration of the convoluted pattern of the three primary cerebral vesicles is feasible. From 11 weeks, the brightly echogenic choroid plexuses filling the large lateral ventricles are the most prominent intracranial structures. In the early second trimester, the lateral ventricles and choroid plexuses decrease in size relative to the brain mass. Examination of the fetal brain can essentially be carried out by two transverse planes, commonly referred to as the transventricular and the transcerebellar plane. The transventricular plane, obtained by a transverse scan at the level of the cavum septum pellucidum will demonstrate the lateral borders of the anterior (or frontal) horns, the medial and lateral borders of the posterior horns (or atria) of the lateral ventricles, the choroid plexuses and the Sylvian fissures. The transventricular view is used for measurement of the biparietal diameter (BPD) head circumference (HC) , and width of the ventricles.

64. Untitled Document In many cases, agenesis of the cerebellar vermis is associated with other congenitalcerebral and somatic anomalies. The clinical profile, etiology, http://www.akronchildrens.org/neuropathology/Chapter11 files/chapter11.html

CHAPTER ELEVEN CONGENITAL ABNORMALITIES OF THE CNS AND HYDROCEPHALUS GENERAL PRINCIPLES Congenital abnormalities are among the leading causes of infant morbidity and mortality and fetal loss. The leading sites of congenital abnormalities are the skeleton, skin, and brain. Congenital abnormalities of the CNS can be divided into developmental malformations and disruptions. Developmental malformations result from flawed development of the brain. This may be caused by chromosomal abnormalities and single gene defects that alter the blueprint of the brain or by imbalances of factors that control gene expression during development. Gene defects may be in the germline or develop after conception by spontaneous mutation or from the action of harmful physical or chemical agents. Some malformations are caused by multiple genetic and environmental factors acting in concert (multifactorial etiology). Disruptions result from destruction of the normally developed (or developing) brain and are caused by environmental or intrinsic factors such as fetal infection, exposure of the fetus to harmful chemicals, irradiation, and fetal hypoxia. For instance, holoprosencephaly, a condition in which the forebrain is not divided into two hemispheres, is a malformation. Hydranencephaly, in which massive destruction reduces the hemispheres into fluid-filled sacs, is a disruption. The line between malformation and disruption is sometimes blurred because an extrinsic factor (e.g. irradiation) may not only cause physical injury but may also damage genes that are important for development.

65. Article : Radiological Quiz - Brain ; Author : AGGARWAL M ; Co-Author(s) : LAKHK CT of the brain shows complete absence of the cerebellar vermis, resulting in Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. http://www.ijri.org/articles/archives/20011101/radquiz03.htm

Radiological Quiz : Brain AGGARWAL M, LAKHKAR BN, RAGHU HR Ind J Radiol Imag 2001 11:1 : 37-38 A one and a half year old mentally retarded girl was brought to the pediatric department with complaints of abnormal side to side movement of the head, uprolling of the eyes, and panting respiration alternating with attacks of apnea. The child was born of an uneventful pregnancy. Clinical examination showed only delayed milestones, in addition to abnormal movements of the eyes. Cerebrospinal fluid analysis did not show any deviation from normal findings. A CT of the brain (Figs 1-3) was obtained. Fig 1: Axial CT Fig 2: Axial CT Fig 3: Axial CT Diagnosis: Joubert Syndrome CT of the brain shows complete absence of the cerebellar vermis, resulting in cerebellar hemispheres apposing each other in the midline (Fig. 1). The 4 th ventricle shows a `batwing' appearance at the level of upper pons (Fig. 2) and a triangular shape at the level of midbrain. The superior cerebellar peduncles are nearly horizontal and can be clearly seen extending anteriorly towards the mid-brain, surrounded by cerebrospinal fluid (Fig. 3). Developmental defects of the cerebellar vermis are classified as; simple aplasia, Joubert syndrome [

66. Cerebellar Agenesis cerebellar agenesis agenesis of the cerebellar vermis Iowa NeuroradiologyLibrary OBGYN.net. Search with keyword(s) And Or Wildcard = * http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=342

67. Accessing Article A computed tomography scan of the brain showed cerebellar and vermis agenesis . Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis report of http://www.nature.com/ng/journal/v36/n12/full/ng1475.html

NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? Most users gain access to full text articles through a site license. This is available to institutional customers only. For further information visit the Librarian Gateway. Full-text articles are also available through a number of other options: I want to purchase this article Select this option to view this article immediately and access it for seven days. Price: US$18* In order to purchase this article you must be a registered user. Click here to register or log in above. I want to subscribe to Nature Genetics Select this option to purchase a personal subscription. I am already a personal subscriber to Nature Genetics Personal subscribers to Nature Genetics can view this article. To do this you need to associate your subscription with your registration via the My Account page. If you already have an active online subscription, log in via the login box in the top right-hand corner of this page. You can request the document from a number of document delivery services: British Library Document Supply Centre CISTI Canadian Institute for Scientific and Technical Information Infotrieve Thomson ISI Document Delivery You can also request the document from your local library through interlibrary loan services.

68. Accessing Article Joubert syndrome is defined by the absence of the cerebellar vermis (Fig. JJ, Robb, JP Andermann, F. Familial agenesis of the cerebellar vermis. http://www.nature.com/ng/journal/v36/n9/full/ng1419.html

NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? Most users gain access to full text articles through a site license. This is available to institutional customers only. For further information visit the Librarian Gateway. Full-text articles are also available through a number of other options: I want to purchase this article Select this option to view this article immediately and access it for seven days. Price: US$18* In order to purchase this article you must be a registered user. Click here to register or log in above. I want to subscribe to Nature Genetics Select this option to purchase a personal subscription. I am already a personal subscriber to Nature Genetics Personal subscribers to Nature Genetics can view this article. To do this you need to associate your subscription with your registration via the My Account page. If you already have an active online subscription, log in via the login box in the top right-hand corner of this page. You can request the document from a number of document delivery services: British Library Document Supply Centre CISTI Canadian Institute for Scientific and Technical Information Infotrieve Thomson ISI Document Delivery You can also request the document from your local library through interlibrary loan services.

69. Healthfinder® — Joubert Syndrome Foundation & Related Cerebellar Disorders experiences and emotional support with those affected by Joubert Syndrome.Joubert Syndrome is the agenesis of the cerebellar vermis characterized clinical. http://www.healthfinder.gov/orgs/HR2531.htm

Help Advanced Search News Library ... Organizations Organization URL(s) joubert@joubertsyndrome.org www.joubertsyndrome.org Other Contact Information 6931 South Carlinda Columbia, MD 21046 410-997-8084 (Voice, ) Description Online Resources FAQ - About Joubert Syndrome http://www.joubertsyndrome.org/FAQ.asp Joubert Syndrome Information Center http://www.joubertsyndrome.org/InfoCenter.asp Joubert Syndrome Resources http://www.joubertsyndrome.org/Resources.asp Print Resources Newsletters and videotapes are available. Related Topics Apnea Ataxia Telangiectasia Mental Retardation Nervous System Diseases Joubert's Syndrome Review Date Wed Sep 8, 2004 About Us Accessibility Freedom of Information Act Privacy ... Office of Disease Prevention and Health Promotion,

70. RobertHolson Joubert Syndrome, YES agenesis of vermis sometimes expressed as autism Selectively stunts cerebellar vermis. Also stunts the inferior olive, http://cdd.unm.edu/aut/RobertHolson.htm

THE ROLE OF ANIMAL RESEARCH IN UNDERSTANDING AND TREATING AUTISM R. Robert Holson, Ph.D. Department of Psychology New Mexico Institute of Mining and Technology Socorro, NM 87801 rholson@nmt.edu THE CURRENT SITUATION Animal research is under-represented in autism research Of the most recent 400 papers on autism listed in Medline, 5 used animals. ... Home

71. Topics In Magnetic Resonance Imaging - UserLogin DandyWalker malformation is a complete or partial agenesis of the vermis, Dandy-Walker variant consists of hypoplasia of the cerebellar vermis, http://www.topicsinmri.com/pt/re/tmri/fulltext.00002142-200104000-00003.htm

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72. Syndromic XLMR Conditions (Table 1) 307010, Hydrocephalus with cerebellar agenesis, Hydrocephalus, cerebellar prognathism, malocclusion, spastic diplegia, cerebellar vermis hypoplasia (? http://xlmr.interfree.it/1_Syn.htm

Syndromes - Table 1 (updated 2 september 2005) MIM No. [Re f.] Name Locus Gene Description Aarskog-Scott Hypertelorism, short stature, downslanting palpebral fissures, anteverted nostrils, shawl scrotum, joint hyperlaxity MRX Lebel et al. Clin Genet 2002 61:139-145. Abidi Short stature, small head, sloping forehead, hearing loss Agenesis of Corpus Callosum, partial Microcephaly, dys/agenesis of corpus callosum, hydrocephalus, spasticity, short broad hands, facial anomalies Ahmad /MRXS7 Obesity, hypogonadism, tapered fingers Akesson Cutis verticis gyrata, thyroid aplasia ANOP1/Graham Anophthalmos, ankyloblepharon, orbital underdevelopment (same as Lenz ? Armfield XAP5 ? Frascati 2001 Nelso n.. Schwartz Macrocephaly, glaucoma, cleft palate, seizures, short stature, small hands and feet Atkin-Flaitz Macrocephaly, “coarse” face, short stature, obesity, macroorchidism (includes Clark-Baraitser) ATR-X ATRX (XNP) *300032 Microcephaly, “coarse” face, genital and skeletal anomalies, a -thalassemia and HbH inclusions in some Juberg-Marsidi ATRX (XNP) *300032 Short stature, deafness, flat nasal bridge, ocular abnormalities, rudimentary scrotum with cryptorchidism

73. Article: NINDS Dandy-Walker Syndrome Information Page: NINDS - WrongDiagnosis.co DandyWalker Syndrome and agenesis of the cerebellar vermis Diagnostic Problemsand Genetic Counselling. Developmental Medicine and Child Neurology, 32; http://www.wrongdiagnosis.com/artic/ninds_dandy_walker_syndrome_information_page

Home Symptoms Diseases Risks ... Newsletter Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: NINDS Dandy-Walker Syndrome Information Page: NINDS Next chapters: NINDS Dementia With Lewy Bodies Information Page: NINDS NINDS Dermatomyositis Information Page: NINDS NINDS Diabetic Neuropathy Information Page: NINDS NINDS Dysautonomia Information Page: NINDS ... Feedback NINDS Dandy-Walker Syndrome Information Page: NINDS Article title: NINDS Dandy-Walker Syndrome Information Page: NINDS Conditions: Dandy-Walker Syndrome What is Dandy-Walker Syndrome? Is there any treatment? Treatment for individuals with Dandy-Walker syndrome generally consists of treating the associated anomalies, if needed. Also, a ventriculoperitoneal shunt may be inserted to control the hydrocephalus. Genetic counselling may also be needed. What is the prognosis? The prognosis for patients with Dandy-Walker syndrome is only moderately favorable, even when the hydrocephalus is treated early and correctly. The presence of multiple congenital defects may adversely affect survival. Prognosis for normal intellectual development is variable depending on the severity of the syndrome and associated malformations. What research is being done?

74. Radiology, University Of Rochester Medical Center There is agenesis of the cerebellar vermis. There is also cystic dilation of the4th ventricle, which fills the posterior fossa. http://www.urmc.rochester.edu/smd/Rad/neurocases/Neurocase64.htm

Radiology Home Department Overview Faculty Residency ... E-mail Images below require Macromedia's Flash Player to view Previous Case Next Case Neuroradiology Case of the Week Case 64 Karin Westesson, Kha Nguyen, George Mangalasseril, and PL Westesson, MD, PhD, DDS Clinical Presentation A 17-month-old girl with a known Dandy Walker variant presents for MR of the head as follow-up. Radiological Findings: There is a posterior fossa cyst that communicates with the fourth ventricle. The cerebellar vermis is hypoplastic and is associated with a high tentorium. The temporal horns are slightly prominent, but the ventricular system is otherwise unremarkable. The cerebral aqueduct is well seen and patent. This patient also exhibits micrognathia. Figure 1: T2-weighted image shows a cyst in the posterior fossa and fourth ventricle.

75. Radiology, University Of Rochester Medical Center There is hypogenesis and midline clefting of the cerebellar vermis, Sagittal images show an agenesis or nearly complete lack of normal vermian folia. http://www.urmc.rochester.edu/smd/Rad/neurocases/Neurocase13.htm

Radiology Home Department Overview Faculty Residency ... Next Case Neuroradiology Case of the Week Case 13 Ramon de Guzman, MD, Yuji Numaguchi, MD, PhD, P-L Westesson, MD, PhD, DDS, Larry Buadu, MD, PhD Ahmed Abdelhalim, MD, Manoj Ketkar, MD, and Jose Echeverri, MD Clinical Presentation The patient is a 20-year-old with history of left facial spasm and seizures. Previous head MRI examinations showed a mass at the quadrigeminal plate cistern and posterior fossa findings suggestive of Dandy-Walker variant. Radiographic Findings: MRI of the head showed interval increase in size of the previously noted mass at the quadrigeminal plate cistern which is hyperintense in T1 weighted images, T2 weighted images and FLAIR images. No definite enhancement is seen in post-contrast images. Posterior fossa findings include absence of the vermis and apposition of the cerebellar hemispheres at the midline ( Fig. 1

76. Frequency Characteristics Of Accommodation In A Patient With Agenesis Of The Pos characteristics of accommodation were studied in a patient with agenesis ofthe posterior cerebellar vermis and four age matched normal subjects. http://bjo.bmjjournals.com/cgi/content/abstract/81/6/476

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Ohtsuka, K. Articles by Sawa, M. Br J Ophthalmol 476-480 ( June ) Frequency characteristics of accommodation in a patient with agenesis of the posterior vermis and normal subjects Kenji Ohtsuka, Masahiro Sawa Department of Ophthalmology, School of Medicine, Sapporo Medical University, Sapporo 060, Japan Correspondence to: K Ohtsuka, MD, PhD, Department of Ophthalmology, School of Medicine, Sapporo Medical University, S-1, W-16, Chuo-ku Sapporo 060, Japan. Accepted for publication 12 February 1997 AIMS To clarify the cerebellar control of accommodation in humans, the frequency characteristics of accommodation were studied

77. Frequency Characteristics Of Accommodation In A Patient With Agenesis Of The Pos in a patient with agenesis of the posterior cerebellar vermis and four age Joubert syndrome or congenital agenesis of the cerebellar vermis.810 The http://bjo.bmjjournals.com/cgi/content/full/81/6/476

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Ohtsuka, K. Articles by Sawa, M. Br J Ophthalmol 476-480 ( June ) Frequency characteristics of accommodation in a patient with agenesis of the posterior vermis and normal subjects Kenji Ohtsuka, Masahiro Sawa Department of Ophthalmology, School of Medicine, Sapporo Medical University, Sapporo 060, Japan Correspondence to: K Ohtsuka, MD, PhD, Department of Ophthalmology, School of Medicine, Sapporo Medical University, S-1, W-16, Chuo-ku Sapporo 060, Japan. Accepted for publication 12 February 1997 Abstract Top Abstract Introduction Materials and methods Results Discussion References AIMS To clarify the cerebellar control of accommodation in humans, the frequency characteristics of accommodation were studied

78. Karger Publishers The cerebellar vermis appeared to be normoplastic; the fourth ventricle and of the fourth ventricle with agenesis of the cerebellar vermis 1, 2, 3, 4. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

79. Emergency Medicine At NCEMI: Emergency Medicine And Primary Care Resources with an occipital meningocele and agenesis of the cerebellar vermis and spleniumof the corpus callosum; associated with warfarin use during pregnancy. http://ncemi.org/

Edition of Thursday September 08, 2005 Search MedBot: Search all of NCEMI eMedicine Textbooks eMedicine (diferent engine) Medline ImageFinder Practice Guidelines Drug Info (dose, etc...) ID Pill with Imprint Code Medical Word Definition Merriam-Webster Dictionary Merriam-Webster Thesaurus Abbreviation Translator Evidence-based lit search Orthopedic Search Google Yahoo Infoseek Make NCEMI your homepage Bookmark This Site Custom Links Add or Edit Palmtop Info Links to information about medical Palmtop computing. Message Board Exchange messages with other visitors interested in emergency medicine. J.A.D.E. Journal Articles Delivered Electronically: we search MEDLINE every Monday on your topic and deliver the results by email free! EDQuiz Test your emergency medicine and primary care medical knowledge with random questions and referenced answers! E-Medicine Online Textbooks incredible electronic textbooks in Emergency Medicine and virtually all other medical specialties all entirely free! Probably the single best medical resource on the Internet.

80. RedNova News - Health - Joubert Syndrome: Long-Term Follow-Up cerebellar vermis hypoplasia/aplasia with molar tooth sign in the axial plane Robb JP, Andermann F. (1969) Familial agenesis of the cerebellar vermis. http://www.rednova.com/news/health/98876/joubert_syndrome_longterm_followup/

ANDP("ntn"); Ads_kid=0;Ads_bid=0;Ads_xl=0;Ads_yl=0;Ads_xp='';Ads_yp='';Ads_xp1='';Ads_yp1='';Ads_opt=0;Ads_wrd='[KeyWord]';Ads_prf='';Ads_par='';Ads_cnturl='';Ads_sec=0;Ads_channels=''; Home News Video Images ... Site Map SPECIAL NEWS Return to Flight REDNOVA NEWS Space Science Technology Health ... Video News REDNOVA EXTRAS RedNova E-Mail My RedNova Join RedNova RSS Feeds ... Tell A Friend, Win $500 Ads by Google Posted on: Saturday, 30 October 2004, 03:00 CDT E-mail this to a friend Printable version Discuss this story in the forum Change Font Size: A A A Joubert Syndrome: Long-Term Follow-Up Little is known about the long-term outcome of Joubert syndrome. Some authors suggest that nearly all living children with this disorder have severe disabilities (Boltshauser et al. 1977, Curatolo et al. 1980, Aicardi et al. 1983, Gitten et al. 1998) and that both cognitive and motor functions will deteriorate with time (Cantani et al. 1990). Others have indicated a much better outcome (Zeigler et al. 1990). In the present study we recalled and reviewed all patients diagnosed as having Joubert syndrome over the past 15 years at the Great Ormond Street Hospital for Children, London, to establish the clinical outcome, assess any evidence of progression, and look for evidence of biochemical abnormalities. Methods The study was performed at Great Ormond Street Hospital for Children. Ethical approval was obtained from the hospital's ethics committee, and informed consent was obtained from the parents of each patient. Patients with a diagnosis of Joubert syndrome were located from the ophthalmology, neurology, and genetic departments' databases. Diagnosis depended upon the presence of abnormal neonatal breathing, abnormal eye movements, developmental delay, and an abnormal cerebellar vermis. The case notes, blood results, renal tract investigations, and computerized tomography (CT) or magnetic resonance imaging (MRI) scans were reviewed and arrangements were made to recall the patients. Those examinations that had previously been inadequate or overlooked were repeated at recall.

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