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         Cerebellar Vermis Agenesis:     more detail
  1. Defective development of the cerebellar vermis (partial agenesis) in a child: With 17 figures in the text (Norsk videnskaps-akademi i Oslo. Skrifter. I. Mat.-naturv. klasse, 1945) by Alf Brodal, 1945

41. TheFetus.net - Joubert Syndrome -Philippe Jeanty, MD, PhD, Nashville, TN And Gia
Neurology 1968 Mar;18(3)3023. 19 Joubert M, Eisenring JJ, RobbJP, Andermann F Familial agenesis of the cerebellar vermis. A
http://www.thefetus.net/page.php?id=122

42. Dandy-Walker Syndrome
containing ependymal cells and occasionally cerebellar tissue in the fourth ventriclewhich replaces the vermis. Associated with the agenesis of corpus callosum
http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNG0IE04.htm
Dandy-Walker Syndrome NeuroLearn NeuroHelp Malformations Background ... Differential Diagnosis BACKGROUND AND CLINICAL INFORMATION Head Summary: The three essential features are: agenesis of the vermis, cystic dilatation of the fourth ventricle and enlargement of the posterior fossa. Hydrocephalus is a frequent but inconstant finding. Clinical features: The clinical manifestations of Dandy-Walker syndrome are mainly those of hydrocephalus. Therefore, the diagnosis is made in 75% of cases after 3 months of age and often only by the first birthday, as hydrocephalus usually becomes apparent by 1 year of age. Remarkably, there is no cerebellar sign or disturbances of stance. Mental retardation is present in 30-50% of patients. Prognosis: Prognosis is guarded and the mortality is about 27%. Other cerebral and visceral anomalies: it is the presene or absence of other cerebral and viseral abnormalies that determines the prognosis of individuals. About 68% of all cases have other developmental abnormalities of the CNS. Facial abnormalities may also be seen. Pathogenesis: agenesis of the vermis and cystic dilatation of the fourth ventricle may be the two primary events. Obstruction of the foramina of Magendie and Luschka may not be present in every cases. Other features may be secondary to the primary events.

43. New Page 1
Walker syndrome include complete or partial agenesis of the The vermis is presentin this cases and is I Conical elongations of the cerebellar tonsils and
http://moon.ouhsc.edu/kfung/JTY1/NeuroTest/Q12-Ans.htm
NeuroTest Sample Question #12 NeuroTest NeuroLearn NeuroHelp Next question ... Previous question Answer: D ( Chiari type II malformation) Level of difficulty Discussion:
  • Lesion in question: This is a case of Chiari type II malformation. In addition to displacement of the vermis (black arrow), there is also malformation of the brain stem (whtie arrow). Tonsillar herniation due to a posterior fossa tumor: In this situation, the tonsils tends to bulge out of foramen magnum which is a feature that is lacking here. In addition, the herniated tonsils is usually dusky in appearance and edematous because of the increase in intracranial pressure; this feature is also absent here. Dandy-Walker syndrome: The three essen tial features of Dandy-Walker syndrome include complete or partial agenesis of the vermis, cystic dilatation of the fourth ventricle and enlargement of the posterior fossa. The vermis is present in this cases and is free of hydrocephalic changes. Hydrocephalus is a frequent but inconstant finding. Other CNS findings include elevation of the tentorium cerebelli and lateral, transverse sinuses and torcula (torcular Herophilli), and lack of patency of the foramina of Magendie and Luschka. Other cerebral and visceral anomalies are present. It is the presene or absence of other cerebral and viseral abnormalies that determines the prognosis. Chiari type I: Conical elongations of the cerebellar tonsils and neighboring parts of the cerebellar hemispheres that extend into the vertebral canal (i.e., below the foramen of magnum). The protruded cerebellar tissue could be histologically normal, infracted or sclerosed. The medulla is either unaffected or flattened by the cerebellar tongues. Often associated with syringomyelia, hydromyelia, syringomyelia, and less commonly hydrocephalus.

44. Rhomb-update.rtf
ABSTRACT agenesis of the cerebellar vermis (paleocerebellar agenesis) withfusion of the cerebellar hemispheres (rhombencephalosynapsis) is a rare
http://www.indiana.edu/~pietsch/rhomb-update.html
web contact: pietsch@indiana.edu
Rhombencephalosynapsis
-1996-1999 (September)
to earlier set and introduction This search was conducted at Indiana University , Bloomington, Indiana and is presented with the generous co-operation and kind permission of SilverPlatter Record 1 of 5 in MEDLINE EXPRESS (R) 1996-1998 TITLE: Rhombencephalosynapsis: cerebellar embryogenesis. AUTHOR(S): Utsunomiya-H; Takano-K; Ogasawara-T; Hashimoto-T; Fukushima-T; Okazaki-M ADDRESS OF AUTHOR: Department of Diagnostic Radiology, Fukuoka University Hospital, Japan. SOURCE (BIBLIOGRAPHIC CITATION): AJNR-Am-J-Neuroradiol. 1998 Mar; 19(3): 547-9 INTERNATIONAL STANDARD SERIAL NUMBER: 0195-6108 PUBLICATION YEAR: 1998 LANGUAGE OF ARTICLE: ENGLISH COUNTRY OF PUBLICATION: UNITED-STATES ABSTRACT: We describe two infants in whom rhombencephalosynapsis was diagnosed with MR imaging in vivo. In contrast to Dandy-Walker malformation, the vermian maldevelopment in this anomaly is characterized by an absence of the anterior vermis and a deficiency of the posterior vermis. The cerebellar hemispheres are fused. In an attempt to identify the pathogenesis of these anatomic manifestations, we question the traditional concept of the embryologic development of the cerebellar primordium. MINOR MESH HEADINGS: Brain-pathology; Cerebellum-pathology; Child,-Preschool; Fetal-Development-physiology; Magnetic-Resonance-Imaging

45. Rhomb.html
diagnosed in vivo by magnetic resonance imaging (MRI) is presented that demonstratesfusion of the dentate nuclei and agenesis of the cerebellar vermis.
http://www.indiana.edu/~pietsch/rhomb.html
web contact: pietsch@indiana.edu
Rhombencephalosynapsis
Rhombencephalosynapsis (RHS) is a rare congenital condition in which the cerebellum is severely underdeveloped. According to Savolaine et al, who first observed RHS with MRI , only fourteen cases have been reported since its discovery in 1914. The rhombencephalon is the embryonic hindbrain rudiment, from which the cerebellum buds off (as the metencephalon) and differentiates. In RHS the central part of the cerbellum (vermis) fails to develop and the two cerebellar hemispheres fuse into a single mass: Thus ' syn apsis', which implies fusion. This search was conducted at Indiana University , Bloomington, Indiana and is presented with the generous co-operation and kind permission of SilverPlatter MEDLINE EXPRESS (R) 1991-1995 1 of 7 TI: [Rhombencephalosynapsis] TO: Rhombenzephalosynapsis. AU: Boltenstern-M; Konrad-A; Jost-W; Uder-M; Kujat-C AD: Institut fur Neuroradiologie, Universitatskliniken des Saarlandes, Homburg/Saar. SO: Rofo-Fortschr-Geb-Rontgenstr-Neuen-Bildgeb-Verfahr. 1995 Jul; 163(1): 91-3

46. Upper Motor Neuron System Hypotonia
DandyWalker malformation. Large posterior fossa due to a large cisternamagna and hypoplasia or agenesis of the cerebellar vermis.
http://pediatricneuro.com/alfonso/pg117.htm
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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.

47. Arthrogryposis Multiplex Congenita
lissencephaly with large lateral ventricles; and C T1axial weighted imagedemonstrates agenesis of the cerebellar vermis (cerebellar hemispheres in
http://pediatricneuro.com/alfonso/pg161.htm
MainMenu Back Next Index
The diagnosis of Zellweger syndrome is established by fibroblast culture and liver biopsy. They do not show peroxisomes when stained for peroxisomal enzymes. Electromicroscopy of the same tissue shows that the peroxisomal membranes are present. They are called “ghost peroxisomes” because the membrane is present but the enzymes are not. Genetic defects at 7q11.23 and 1p22-p21 are associated with Zellweger syndrome. Most patients with Zellweger syndrome die during the first year of life. Survivors are mentally retarded. Zellweger syndrome has an autosomal recessive inheritance. Walker-Warburg Syndrome
The acronym HARD +/- E has being used for this disorder. This acronym stands for the first letter of the major features of this condition: hydrocephalus, agyria (cerebral
A B C Figure 161.1. Walker-Warburg syndrome. [A] T -axial weighted image demonstrates microphthalmia; [B] T1-axial weighted image demonstrates lissencephaly with large lateral ventricles; and [C] T1-axial weighted image demonstrates agenesis of the cerebellar vermis (cerebellar hemispheres in apposition without an intervening vermis).

48. EDUCATION PLANET - 72 Web Sites For Corpus Callosum
4. agenesis OF THE cerebellar vermis Pediatric Database (PEDBASE) DisciplineCNS Last Updated 5/21/94 agenesis OF THE cerebellar vermis DEFINITION A
http://www.educationplanet.com/search/Science/Biology/Neuroscience/Brain_Anatomy
All Grades Pre-K K-2 Higher Ed Search 100,000+ top educational sites, lessons and more! Home Science Biology Neuroscience Found Corpus Callosum ' Web Sites. Also for ' Corpus Callosum 19 Lesson Plans Web Sites (1 - 10 of 72): agenesis00.html - go to Shufflebrain main menu AGENESIS OF THE CORPUS CALLOSUM, THE LITERATURE Introduction and Index web contact: pietsch@indiana.edu Indiana University, Bloomington, Indiana See SilverPlatter's Worldwide Library for bibliographic search information .)
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AGENESIS OF THE CORPUS CALLOSUM - Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 5/22/94 AGENESIS OF THE CORPUS CALLOSUM DEFINITION: A disorder of neuronal migration characterized by partial to complete agenesis of the corpus callosum. EPIDEMIOLOGY: incidence: ? age of onset:
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AICARDI SYNDROME - Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 6/12/94 AICARDI SYNDROME DEFINITION: An x-linked recessive disorder characterized by neurological and ophthalmologic manifestations and agenesis of the corpus callosum. EPIDEMIOLOGY: incidence: r
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AGENESIS OF THE CEREBELLAR VERMIS - Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 5/21/94 AGENESIS OF THE CEREBELLAR VERMIS DEFINITION: A congenital anomaly of the cerebellum characterized by partial or complete agenesis of the vermis. EPIDEMIOLOGY: incidence: ? age of onset:

49. EDUCATION PLANET - 7 Web Sites For Cerebellum
1. agenesis OF THE cerebellar vermis Pediatric Database (PEDBASE) DisciplineCNS Last Updated 5/21/94 agenesis OF THE cerebellar vermis DEFINITION A
http://www.educationplanet.com/search/Science/Biology/Neuroscience/Brain_Anatomy
All Grades Pre-K K-2 Higher Ed Search 100,000+ top educational sites, lessons and more! Home Science Biology Neuroscience ... Cerebellum Found Cerebellum ' Web Sites. Also for ' Cerebellum 10 Lesson Plans Web Sites (1 - 7 of 7): AGENESIS OF THE CEREBELLAR VERMIS - Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 5/21/94 AGENESIS OF THE CEREBELLAR VERMIS DEFINITION: A congenital anomaly of the cerebellum characterized by partial or complete agenesis of the vermis. EPIDEMIOLOGY: incidence: ? age of onset:
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StandardDeviants.com - Offering fun, free educational resources for 36 high school, college and continuing education subjects, StandardDeviants.com is the ultimate learning resource on the Web.
Grades: Cache ACUTE CEREBELLAR ATAXIA - Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 5/21/94 ACUTE CEREBELLAR ATAXIA DEFINITION: A movement disorder characterized by the sudden onset of acute truncal ataxia 2-3 weeks after a viral infection. EPIDEMIOLOGY: incidence: ? age of onse
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50. Arquivos De Neuro-Psiquiatria -
and, occasionally, retinal dystrophy and cystic kidneys associated with cerebellarmalformation consisting in vermis hypoplasia or agenesis and abnormalities
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2000000500016&l

51. Tablica Og³oszeñ - Www.dzieci.org.pl - Syndrom Joubert
Joubert M, Eisenring J, Robb JP, Andermann F. Familial agenesis ofthe cerebellar vermis. Neurology 1969; vol 19, no 9 813825.
http://www.dzieci.bci.pl/cgi-bin/forum/UltraBoard.pl?Action=ShowPost&Board=02&Po

52. Blackwell Synergy - Cookie Absent
agenesis of the cerebellar vermis is an uncommon defect, and usuallyis detected while evaluating the posterior fossa. It can be
http://www.blackwell-synergy.com/links/doi/10.1046/j.0960-7692.2001.00621.x/full
 Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

53. Blackwell Synergy - Cookie Absent
Moreover, cerebral malformations suggestive of cerebral atrophy, eg frontal atrophy,cerebellar vermis atrophy, ventricular enlargement and agenesis of corpus
http://www.blackwell-synergy.com/links/doi/10.1034/j.1601-5215.2003.00046.x/full
 Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

54. The 18-23-week Scan - Chapter 2.06
The condition is classified into (1) Dandy–Walker malformation (complete orpartial agenesis of the cerebellar vermis and enlarged posterior fossa);.
http://www.fetalmedicine.com/18-23scanbook/Chapter2/chap02-06.htm
The 18-23-week scan
DANDY-WALKER COMPLEX
(3) Mega-cisterna magna (normal vermis and fourth ventricle).
Prevalence
Etiology
Diagnosis
Ultrasonographically, the contents of the posterior fossa are visualized through a transverse suboccipitobregmatic section of the fetal head (see Figure 7
Prognosis
Return to Contents Page Next...

55. OBGYN.net - OBGYN.net Ultrasound - January 1999 Case Of The Month
2 DWM covers a spectrum of abnormalities of the cerebellum that range from an increasedindentation of the cerebellar vermis to complete agenesis of the vermis
http://www.obgyn.net/us/us.asp?page=/us/cotm/9901/cotm_9901

56. OBGYN.net Ultrasound Section - May Case Study
and large beaked nose, cerebellar vermis hypoplasia, unilateral hydronephrosis (AP renal pelvis measurement = 1.4 cm), suspected agenesis of corpus callosum.
http://www.obgyn.net/us/cotm/9805/cotm9805.htm
OBGYN.net Ultrasound: Case of the Month May 1998
Seckel Syndrome: A Case Study of Prenatal Sonographic Diagnosis
by Victoria Alderman, MA, RDMS OBGYN.net Ultrasound Advisory Board Member
Baylor College of Medicine, Houston, TX
Seckel Syndrome is a rare (<1:10,000) constellation of malformations, presumably inherited as an autosomal-recessive trait. The primary characteristic features of Seckel Syndrome (SS) include; severe intrauterine growth restriction, microcephaly, orofacial dysmorphology with characteristic "bird-headed" appearance, and mental retardation. Case Report The patient is a 43 year old gravida 5, para 3, with a history of a child diagnosed with SS . The effected child died at the age of three years secondary to respiratory complications sustained under general anesthesia during a minor surgical procedure. The patient presented for ultrasound evaluation and genetic amniocentesis at 15.0 weeks gestation by menstrual history. Ultrasound demonstrated a normal appearing female fetus. Fetal biometry was consistent with 15.0 weeks gestation, with all parameters equal to the mean for gestational age. Menstrual dates were therefore confirmed as accurate. Genetic amniocentesis was performed without complications. In light of the patient's history of an SS effected child, repeat ultrasound evaluation were recommended to monitor fetal growth. Chromosomal analysis showed a normal 46,XX karyotype. Subsequent ultrasound examinations are summarized below.

57. ICP Monitors
be minimally or maximally dilated, and there may or may not be dysgenesis of theinferior cerebellar vermis. 2. Complete or incomplete agenesis of the vermis.
http://www.ucch.org/sections/neurosurg/NeuroReview/11-Pediatrics/PFossaCysts.htm
Congenital CSF Abnomalities of the Posterior Fossa Classification 1. Dandy-Walker malformation. 2. Isolated fourth ventricle. 3. Pulsion diverticulum. 4. Mega cisterna magna, ex-vacuo cysts. I. Dandy-Walker Malformation Definition Epidemiology Dandy-Walker syndrome which consists of the following features. 1. Posterior fossa cyst with the fourth ventricle as its floor. 2. Complete or incomplete agenesis of the vermis. The inferior vermis is usually always involved. 3. Dilatation of fourth ventricle. 4. Enlarged posterior fossa. 5. Torcula elevated and located at the skull vertex. 6. Other associated anomalies. i) Hydrocephalus. ii) Agenesis of corpus callosum. iii) Nuclear dysplasia of brainstem. iv) Cerebral and cerebellar heterotopias. Pathogenesis 1. Foraminal Atresia i) Dandy-Walker. Elastic, diverticulum of IVth ventricle. ii) Chiari. Inelastic, hindbrain herniation. iii) Arachnoid cyst. Splitting of the roof with two layers. iv) Syringomyelia. Pulsation into central canal, water hammer effect. 2. Teratogenic Theory Clinical Features hydrocephalus are present such as an enlarged head, bulging fontanelle, and

58. Rhombencephalosynapsis: CT And MRI Findings Mendonça JL, Natal MR, Viana SL, Co
10. 11. Michaud J, Mizrahi EM, Urich H. agenesis of the vermis with fusion ofthe cerebellar hemispheres, septooptic dysplasia and associated anomalies.
http://www.neurologyindia.com/article.asp?issn=0028-3886;year=2004;volume=52;iss

59. Radiology, University Of Rochester Medical Center
There is agenesis of the cerebellar vermis. There is also cystic dilationof the 4th ventricle, which fills the posterior fossa.
http://www.urmc.rochester.edu/smd/Rad/neurocases/Neurocase64.htm

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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.

60. Radiology, University Of Rochester Medical Center
and midline clefting of the cerebellar vermis, dysplasias and decussation of thesuperior cerebellar peduncles and Sagittal images show an agenesis or nearly
http://www.urmc.rochester.edu/smd/Rad/neurocases/Neurocase13.htm

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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

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