81. Increased Plasma Malondialdehyde Associated With Cerebellar Structural Defects - Five patients suffered from midline fusion defects or vermis agenesis. Among thechildren with vermis agenesis two patients presented a typical history and http://adc.bmjjournals.com/cgi/content/full/77/3/231

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Ramaekers, V T. Articles by Wanders, R J A Arch Dis Child 231-234 ( September ) Increased plasma malondialdehyde associated with cerebellar structural defects V Th Ramaekers, a B Bosman, a G A Jansen, b R J A Wanders b a Department of Paediatrics, University Hospital Aachen, Germany, b Department of Paediatrics and Clinical Biochemistry, University Hospital Amsterdam, The Netherlands Correspondence to: Dr V Th Ramaekers, Department of Paediatrics, Medizinische Einrichtungen der RWTH, Pauwelsstrasse 30, D-52057 Aachen, Germany. Accepted 23 April 1997 Abstract Top Abstract Introduction Patients and methods Results Discussion References BACKGROUND Malondialdehyde (MDA) in plasma is regarded as an indicator for increased lipid peroxidation.

82. Agenesis Of The Vermis Here is a list of responses that have been posted to this article agenesis ofCerebellar vermis (9/15/96) 142 PM http://neuro-www.mgh.harvard.edu/neurowebforum/GeneralFeedbackArticles/Agenesiso

Agenesis of the Vermis This article submitted by Julie Leibel on 9/14/96. Author's Email: jleibel@cyberatl.net My 4-1/2 year old twin son was diagnosed with Agenesis of the Vermis. Has to do with visual communication between the cerebellar hemispheres and balance disorders. Anyone have any information on this? Overall diagnosis is Hypotonic Cerebral Palsy. Next Article Previous Article Return to Topic Menu Here is a list of responses that have been posted to this article... Agenesis of Cerebellar Vermis (9/15/96) 1:42 PM You now have TWO OPTIONS: Post a new Article or post a Response to this Article Click here to post a new Article! If you would like to post a Response to this article, fill out this form completely... Do not use slashes ("/") or colons (":") or other "special" characters in your Article title! Also, please be sure to make your Response Title something descriptive...NOT the same title as the original article.. Response Title: Author: Author Email: Response Text: Original Article: (Don't change this field!)

83. Ataxia: Recessive CNS pathology cerebellar atrophy, hemispheres vermis cerebellar PancreaticAgenesis24 l Pancreas transcription factor 1, aSUBUNIT (PTF1A) http://www.neuro.wustl.edu/neuromuscular/ataxia/recatax.html

Front Search Index Links ... Ataxia-Oculomotor Apraxia 1 (AOA1): Aprataxin; 9p13 Ataxia-Oculomotor Apraxia 2 (AOA2): Senataxin; 9q34 Ataxia telangectasia : ATM; 11q22 Ataxia telangectasia-like (ATLD): MRE11; 11q21 Ataxia with neuropathy Ataxia with upgaze palsy Baltic Myoclonus (Unverricht-Lundborg) : Cystatin B; 21q22 Cardiomyopathy + Ataxia Cayman ataxia : ATCAY; 19p13 Cerebelloparenchymal disorders (CPD): II III IV V ... Charlevoix-Saguenay - Spastic Ataxia : Sacsin; 13q12 Childhood onset Cockayne Syndrome Coenzyme Q10 deficiency Cytochrome c Oxidase I : Mitochondrial Early onset with retained reflexes (EOCA) Friedreich ataxia : Frataxin (FRDA); 9q13 Friedreich ataxia 2 (FRDA 2): 9p23 Hypogonadism Infantile Onset Spinocerebellar Ataxia : Twinkle; 10q24 Leukoencephalopathies with vanishing white matter Macular dystrophy MIRAS Portneuf spastic ataxia ... Salla syndrome (Sialic acid storage): SLC17A5; 6q14 Slow eye movements Vitamin E deficiency Xeroderma pigmentosum Metabolic ataxias ... Abetalipoproteinemia : MTP; 4q22 Biotinidase Deficiency Carnitine acetyltransferase Cerebrotendinous Xanthomatosis Hartnup ... Hyperammonemic : Urea cycle Hypobetalipoproteinemia : APOB; 2p24, 3p22

84. MUMS List Of Disorders - C cerebellar Hypoplasia (23); cerebellar Pontine Hypoplasia (2); cerebellar vermisAgenesis (10); cerebellar vermis Hypoplasia (5); Cerebral Atrophy (20) http://www.netnet.net/mums/mum_c.htm

Return to MUMS Home Page MUMS: List of Disorders C Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. C-PAP (14) Cachexia (1) Caffey Disease (Cortical Hyperostosis, Infantile) (2) Caffey-Silverman Syndrome (1) CATCH 22 Syndrome(DiGeorge+Velo-Cardio-Facial+Conotruncal) (5) * CHARGE Syndrome (49) * CHARGE-VATER Syndrome (2) Calcium Deficiency (26) Campomelic Dysplasia Syndrome (11) * Camptodactyly (5) Canavan's Leukodystrophy (3) * www.canavan.org/ Cancer (135) * www.cancer.org and www.candlelighters.org Cancer, Acute Lymphatic Leukemia (ALL) (6)* Cancer, Anoplastic Oligodendroglioma Tumor (1) Cancer, Chordoma (Spinal Tumor) (1) * Cancer, Ewings Sarcoma (6) * Cancer, Ovaries (1) * Cancer, Primary Neuroectodermal Tumor of the Spine (PNET) (2) * Cancer, Rhabdomyosarcoma (4)* Candida Yeast Infection (7) Candida Yeast Infection in Large Intestine (1) Carbamyl Phosphate Synthetase Deficiency (CPS) (2) * Carbohydrate-Deficient Glycoprotein Syndrome (CDGS) (8) * Carbon Monoxide Poisoning (2) Cardiac Pacemaker (23) Cardio-Facio-Cutaneous Syndrome (19) ** Cardiomyopathy (36) * www.childrenscardiomyopathy.org

85. OBGYN.net - OBGYN.net Ultrasound - January 1999 Case Of The Month from an increased indentation of the cerebellar vermis to complete agenesisof the vermis with a deep cleft between the hemispheres of the cerebellum. http://www.obgyn.net/us/us.asp?page=/us/cotm/9901/cotm_9901

86. Indian Pediatrics - Editorial Unilateral cerebellar hypoplasia has also been described in Aicardi’s Syndrome(9) . callosal agenesis, ocular abnormalities A new syndrome. http://www.indianpediatrics.net/may2000/may-542-545.htm

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 2000;37:542-545 Aicardi’s Syndrome in a Male Child: An Unusual Presentation K.C. Aggarwal Archana Aggarwal* M.S. Prasad R.N. Salhan Amit Upadhaya From the Departments of Pediatrics and Radiodiagnosis*, Safdarjang Hospital, New Delhi 110 029, India. Reprint requests: Dr. K.C. Aggarwal, Senior Pediatrician, Department of Pediatrics, Safdarjang Hospital, New Delhi 110 029, India. Manuscript Received: August 23, 1999; Initial review completed: September 27, 1999; Revision Accepted: November 19, 1999 In 1965, Aicardi and colleagues reported a new syndrome characterized by agenesis of corpus callosum (ACC) with cortical heterotopia, infantile spasm, chorioretinopathy, mental retardation with or without associated vertebral anomalies. Amongst these, ACC, infantile spasms, mental retardation and chorioretinal lacunae are the constant findings(1). It is a rare neuro-ophthalmic disorder with progressive mental deterioration. All the patients described till date have been females except two male subjects(2,3). We describe a male baby who had all the essential features suggestive of Aicardi’s Syndrome along with ventricular septal defect and lissencephaly.

87. Dandy Walker Malformation consisting of a triad of abnormalities; complete or partial agenesis of thecerebellar vermis, cystic dilatation of the fourth ventricle, http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/DANDY WALKER MA

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Dandy walker malformation, In classical Dandy-Walker malformation hydrocephalus is considered a complication rather than part of the malformation and though unusual at birth it is present in 75% of patients by 3 months of age and in 90% of patients at the time of diagnosis. The malformation occurs in 1 per 25,000-30,000 births. Walker Warburg syndrome , Dekaban syndrome, cerebro-oculo-muscular syndrome and vermian hypoplasia with colobomata and hepatic fibrosis.Those genetic syndromes in which vermian agenesis is an occasional feature include Meckel-Gruber, Mohr, orofacial digital syndrome type II, Coffin Siris syndrome Smith Lemli Opitz syndrome Ellis van Creveld syndrome Ruvalcaba Myhere Smith syndrome .Other non-Mendelian syndromes in which vermian agenesis may be a feature include Dandy-Walker cyst wi EP EP The Encyclopaedia of Medical Imaging Volume VII Dandy walker malformation, Fig. 1

88. Journal Of Pediatric Hematology Oncology - UserLogin An 18month-old girl with agenesis of the corpus callosum, hypoplasia of thecerebellar vermis, hypotonia, and severe developmental delay presented with http://www.jpho-online.com/pt/re/jpho/fulltext.00043426-200110000-00016.htm

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89. The American Journal Of Forensic Medicine And Pathology - UserLogin The DandyWalker malformation is an apparent agenesis of the cerebellar vermiswith preservation of the hemispheres and the presence of a cyst that http://www.amjforensicmedicine.com/pt/re/ajfmp/fulltext.00000433-200006000-00013

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90. Article : Rhombencephalosynapsis - A Rare Diagnosis On Computed Tomography; Auth Michaud J, Mizrahi EM, Urich H. agenesis of the vermis with fusion of the cerebellarhemispheres, septooptic dysplasia and associated abnormalities. http://www.ijri.org/articles/archives/2003-13-1/cns_107.htm

CNS Rhombencephalosynapsis: A Rare Diagnosis on Computed Tomography KB Taori, SV Kimmatkar, K Mitra, S Khandekar Ind J Radiol Imag 2003 13:1:107-109 Key Words: Rhombencephalosynapsis, Computed Tomography Abstract Rhombencephalosynapsis is a rare posterior fossa malformation characterized by the absence of vermis and midline fusion of both cerebellar hemispheres. We report a live case of rhombencephalosynapsis diagnosed on Computed Tomography in a two months old boy, associated with other supra-tentorial anomalies. This case becomes unique in the aspect that it is the first case diagnosed on CT, as previous all cases were diagnosed on Magnetic Resonance imaging and antenatal Ultrasound. Case report A two-month-old boy presented to the pediatric OPD with difficulty in suckling since birth hence instead of breast-feeding, he was top fed with a spoon. Perinatal History: The parents had a non-consanguineous marriage. The boy had a brother who was two and half years old and did not have any obvious congenital anomaly. The mother was an unregistered antenatal case who did not undergo any ultrasound screening during pregnancy. The baby was a full term normally delivered child with a normal apgar score. Physical examination revealed: Craniosynostosis with fused sagittal suture, the anterior fontanelle was open. The suckling reflex was absent. No other obvious congenital anomalies were seen. The baby was advised a transcranial ultrasound, which showed the absence of the corpus callosum, and septum pellucidum, ventriculomegaly and a small posterior cranial fossa. Computed Tomography (CT) of the brain was advised to evaluate the cause of ventriculomegaly.

91. Joubert Syndrome Foundation & Related Cerebellar Disorders The Joubert Syndrome Foundation Related cerebellar Disorders is an international The disorder is characterized by agenesis (absence) or hypoplasia http://www.joubertsyndrome.org/

What is Joubert Syndrome? Joubert Syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by agenesis (absence) or hypoplasia (underdeveloped) of the part of the brain called the cerebellar vermis and a malformed brain stem. The most common features of the disorder include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia. Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. We are celebrating our 13th year of providing information about the disorder to families all over the world! newsletter , and a biennial conference This website is funded entirely by private contributions made by members and friends of the foundation. syndrome, joubert syndrome, joubert, joubert disease, joubert's syndrome, jobair syndrome, what is joubert syndrome, jobert, jouberts, joubert syndrome treatment, joubert syndrome prognosis, joubert syndrome research, cerebellum, cerebellar, Arima, Dekaban, Senior-Loken, Varadi, COACH, cerebellar hypoplasia

92. Other Images cystic dilatation of the 4th ventricle; complete of partial agenesis of thecerebellar vermis; hydrocephalus (which may occur late) http://www.adhb.govt.nz/newborn/TeachingResources/Radiology/HUSS/NeonatalOtherHU

Isolated Frontal Horn Paraventricular Cysts Lenticulostriate Vasculopathy Hydrocephalus Vein of Galen Malformation ... Cytomegalovirus Isolated Frontal Horn Cysts Click on images to view larger images These lesions are not common but can cause significant concern for clinical staff and parents. Typically they occur in the frontal lobes, lateral to the ventricles in a more inferior position to that seen with periventricular leukomalacia . There are no consistently identified predisposing factors. They are usually present within the first week, detected on screening ultrasound scan in those infants born prematurely. They may enlarge over time but commonly regress within a few months of birth. They are not associated with long-term neurodevelopmental sequelae. Reference: Pal BR, Preston PR, Morgan MEI, Rushton RI, Durbin GM. Frontal horn thin walled Lenticulostriate Vasculopathy Click on images to view larger images Lenticulostriate vasculopathy (previously termed "mineralising vasculopathy") occurs in 0.4% of all liveborn neonates, and in a higher proportion (up to 5.8%) of ill infants. It is characterised by demonstration of linear, branching or punctate lesions associated with arteries in the thalamus and basal ganglia. It is bilateral in approximately half the cases detected. In the images to the left, linear opacities are seen in the basal ganglia.

93. Joubert Syndrome Joubert syndrome. Cerebelloparenchymal Disorder IV, CPD IV, cerebellar VermisAgenesis, JoubertBoltshauser Syndrome http://www.kumc.edu/gec/support/joubert.html

Joubert syndrome Cerebelloparenchymal Disorder IV, CPD IV, Cerebellar Vermis Agenesis, Joubert-Boltshauser Syndrome Joubert Syndrome Foundation, Inc. includes Joubert Syndrome Parents-In-Touch 6931 South Carlinda Ave Columbia, MD 21046 Phone: 410.997.8084 Fax: 410.992.9184 E-mail: joubertfoundation@joubertfoundation.com Web site: www.joubertfoundation.com/ Joubert Syndrome FAQ Also See: National organizations information on genetic conditions or birth defects Joubert Syndrome Information Page , National Institute of Neurological Disorders and Stroke (NINDS) Joubert Syndrome , Online Mendelian Inheritance in Man (OMIM) *213300 To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised July 16, 2002 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites)

94. S | Erfocentrum | Voorlichting | Pagina 4 | Arts En Apotheker Retinal Aplastic-Cystic Kidneys-Joubert Syndrome -vermis Aplasia -vermis CerebellarAgenesis. www.erfocentrum.nl/zena/joube.php - 14 aug 2003 http://www.artsenapotheker.nl/c39555/p4

sitemap pers informatie home vrijdag 9 september 2005 S Home Voorlichting Erfocentrum ... Redactie Mist u voorlichtingsmateriaal? U kunt dat natuurlijk e-mailen , maar u kunt het materiaal ook zelf op de website plaatsen. Zoek alleen in S Resultaten uit totaal van Syndroom van Edwards Voorlichting van: Stichting Erfocentrum Soort: Publieksinformatie Extra info: Synoniem: trisomie 18 www.erfelijkheid.nl/zena/edwar.php - 12 aug 2003 Syndroom van Ehlers-Danlos (EDS) Voorlichting van: Stichting Erfocentrum Soort: Publieksinformatie www.erfelijkheid.nl/zena/ehler.php - 12 aug 2003 Syndroom van Gilbert Voorlichting van: Stichting Erfocentrum Soort: Publieksinformatie www.erfocentrum.nl/zena/gilbe.php - 14 aug 2003 Syndroom van Jacobsen Voorlichting van: Stichting Erfocentrum Soort: Publieksinformatie Extra info: Synoniem: 11q-deletie www.erfocentrum.nl/zena/jacob.php - 14 aug 2003 Syndroom van Jervell-Lange-Nielsen Voorlichting van: Stichting Erfocentrum Soort: Publieksinformatie Extra info: Het syndroom van Jervell-Lange-Nielsen is een zeldzame vorm van het Lange QT-tijd syndroom (LQTS), dat gepaard gaat met aangeboren doofheid. www.erfocentrum.nl/zena/jerve.php - 14 aug 2003

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