Microcephaly Trisomy 18. Trisomy 13. Xeroderma Pigmentosum. Non Genetic. 1. Congenital CNSAnomalies agenesis of the cerebellar vermis; agenesis of the Corpus Callosum; http://www.manbir-online.com/diseases/microcephaly.htm
Extractions: Sorry, your browser doesn't suppor Java. Microcephaly Microcephaly is a rare, neurological disorder in which the circumference of the head is smaller than the average for the age and gender of the infant. Microcephaly may be congenital or it may develop in the first few years of life. This disorder may be caused by a wide variety of conditions that effect the growth of brain. It is often associated with chromosomal abnormality. Infants with microcephaly may be born with a normal or reduced head size. The head fails to grow while the face continues to develop at a normal rate, producing a child with a small head, a large face, and a loose, often wrinkled scalp. As the child grows the smallness of the head becomes more obvious. Whole body is also underdeveloped. Motor functions and speech are delayed. Motor ability may vary, and it may be clumsy movements or even quadriplegia (paralysis of both upper and lower limbs). Hyperactivity and mental retardation are common. Convulsions may also occur.
Glossary Of Terms Associated With Lissencephaly agenesis of the corpus callosum, the corpus callosum failed to develop duringpregnancy. cerebellar vermis, 1. either of two parts of the median lobe of the http://homepage.ntlworld.com/foliot/liss/lissgloss.htm
Extractions: Glossary of terms associated with Lissencephaly Having struggled to understand detailed clinical and genetic papers on Lissencephaly I thought a glossary of specific terms would help make things a little clearer. For a list of abbreviations Click Here A B C ... X Y Z A a- not, absent - like a genesis absence seizure transitory interruption of conciousness without convusion (petit mal) agenesis of the corpus callosum the corpus callosum failed to develop during pregnancy agyria absence of gyri giving a smooth surface to part or all of the brain allele a gene found in the same location on a pair of homologous chromosomes anoxia no oxygen apnea a temporary cessation of breathing ataxia inability to coordinate voluntary muscle movements; unsteady movements and staggering gait atonic drop attack seizure which involves a sudden loss of muscle control autosomal an inheritance pattern indicating that the gene involved is not on one of the sex chromosomes. It is the opposite of sex-linked, or X-linked, or Y-linked. aversive seizure seizure in which the head, eyes, or trunk turn to one side
NEURORADIOLOGY can occur in the interhemispheric fissure in association with agenesis of the enlargedposterior fossa containing a huge cyst with the cerebellar vermis absent http://www.indianradiologist.com/neuroradiology23.htm
Extractions: Interhemispheric dorsal cyst is usually associated with anomalies such as agenesis of corpus callosum, holoprocencepaly and Dandy Walker malformation Examination of the brain in holoprocencepaly reveals fused thalami, absence of the interhemispheric fissure and falx cerebri, a large crescent-shaped holoventricle, absence of the septum pellucidum, and, most often, a large dorsal cyst. This cyst will usually occupy more than half of the volume of the calvarium. When the lobes of thalami separate and the third ventricle can be identified, the diagnosis of semilobar or lobar holoprosencephaly should be entertained. The recognition of a sagittal sinus within the falx and a torcula make lobar holoprosencephaly most likely. If a dorsal cyst is seen, alobar or semilobar prosencephaly should be given first consideration. Dandy-Walker malformation can be associated with hypogenesis of the corpus callosum and interhemispheric cyst. MRI will shows an enlarged posterior fossa containing a huge cyst with the cerebellar vermis absent. A large CSF-intensity region can be present dorsal and superior to the genu. Both lateral ventricles can be identified and are separate from the cyst.
References Bordarier, C. Aicardi, J. (1990). DandyWalker syndrome and agenesis ofthe cerebellar vermis Diagnostic problems and genetic counseling. http://web.syr.edu/~sndrake/postrefs.htm
Extractions: Child's Brain, 11 Anderson, E.M. (1975). Cognitive deficits in children with spina bifida and hydrocephalus: A review of the literature. British Journal of Educational Psychology, 43 Developmental Medicine and Child Neurology, 32 Brunt, D. (1984). Apraxic tendencies in children with meningomyelocele . Adapted Physical Quarterly, 1 Fernell, E., Gillberg, C., 6 Von Wendt, L. (1991). Autistic symptoms in children with infantile hydrocephalus. Acta-Paediatrica Scandinavia, 80 Horn, D.G., Lorch, E.P., Lorch, R.F., Q Culatta, B. (1985) . Distractibility and vocabulary deficits in children with spina bifida and hydrocephalus. Developmental Medicine and Child Neurology, 27 Neurologia Scandinavia, 65 Kalat, J.W. (1984) . Biological Psychology . Belmant, Calif: Wadsworth. Krishnamoorthy, K.S., Kuehnle, K.J., Todres, DeLong, G.R. (1984) . Neurodevelopmental outcome of survivors with posthemorrhagic hydrocephalus following grade II neonatal intraventricular hemorrhage. Annals of Neurology, 15 Levinson, H.N. (1989). The cerebellar-vestibular predisposition to anxiety disorders.
INTERACTIONS OF TASK DEMANDS, PERFORMANCE, AND NEUROLOGY Bordarier, C. Aicardi, J. (1990). DandyWalker syndrome and agenesis ofthe cerebellar vermis Diagnostic problems and genetic counselling. http://web.syr.edu/~sndrake/intract.htm
Extractions: This article was originally published in the August 1993 issue of Facilitated Communication Digest (vol. 1, no. 4). In accordance with the reprint policy of the newsletter, this article may be reproduced for non-commercial use, as long as reproductions include proper attribution regarding author and original source. INTERACTIONS OF TASK DEMANDS, PERFORMANCE, AND NEUROLOGY Stephen Drake Facilitated Communication Institute Those of us who have read the works of researchers such as Margaret Bauman and Eric Courchesne have been hearing a lot regarding the role that the cerebellum may play in autism. The cerebellum is a structure located behind and below the cerebral cortex. It is known that the cerebellum plays an important role in regulating complex motor activities. Apparently cerebellar function is central to activities combining both motoric and cognitive components, such as writing and speech (Leiner et al, 1991). Interpretation of the difficulties individuals may exhibit with complex tasks may be difficult. The cerebellum also plays an important role in maintaining homeostasis of the sympathetic and parasympathetic nervous systems. It is these systems that govern our "fight or flight" response. Levinson (1989) noted the association of anxiety to physiological symptoms relating to cerebellar-vestibular functions. The cerebellar-vestibular disturbances that he identified include: imbalance; dyscoordination; disturbances of muscle tone; impaired motion-processing; disturbances in orientation; triggering of perseveration mechanisms; and secondary destabilization of the autonomic nervous system. Clinical evidence related by Levinson demonstrates that anxiety levels affect the cerebellar-vestibular functioning of "normal" subjects. It would seem reasonable to assume that individuals with preexisting cerebellar-vestibular dysfunction are even more sensitive to the disruptive effects of anxiety.
Pseudotumor Cerebri Associated with other neurologic abnormalities Microgyria or Macrogyria;Porencephaly; agenesis of corpus callosum or cerebellar vermis; http://www.fpnotebook.com/NEU26.htm
Extractions: Home About Links Index ... Editor's Choice Paid Advertisement (click above). Please see the privacy statement Neurology CSF Cognitive ... Headache Pseudotumor cerebri Laboratory Cerebrospinal Fluid CSF Latex Agglutination CSF Blood ... Lumbar Puncture Pseudotumor cerebri Idiopathic Intracranial Hypertension Book Home Page Cardiovascular Medicine Dental Dermatology Emergency Medicine Endocrinology Gastroenterology General Medicine Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Neurology Index Autonomic Cerebellum Chorea Cranial Nerve Cognitive CSF Cardiovascular Medicine Demyelinating Disability Examination Ophthalmology Gynecology Headache Infectious Disease Laboratory General Level of Consciousness Motor Obstetrics Pediatrics Pharmacology Procedure Psychiatry Radiology Seizure Sensory Sports Medicine Surgery Tremor Page CSF Index Cognitive Hydrocephalus Headache Pseudotumor Cerebri Epidemiology Incidence General Population: 0.9 per 100,000
UCLA NEUROSURGERY | Pediatric Diseases & Disorders This results in agenesis (failure to develop) of the cerebellar vermis with alarge posterior fossa cyst communicating with an enlarged 4th ventricle. http://www.neurosurgery.medsch.ucla.edu/Diagnoses/Pediatric/PediatricDis_3.html
Extractions: PEDIATRIC PROGRAM PEDIATRIC EPILEPSY SURGERY PROGRAM PEDIATRIC DIAGNOSES INDEX What is Dandy-Walker Syndrome? The Dandy-Walker syndrome is hydrocephalus associated with a posterior fossa cyst and abnormal development of the cerebellum. What causes Dandy-Walker Syndrome? This malformation is thought to occur secondary to atresia (failure to open) of the foramina of Luschka and Magendie. This results in agenesis (failure to develop) of the cerebellar vermis with a large posterior fossa cyst communicating with an enlarged 4th ventricle. Hydrocephalus occurs in 90% of cases. How is Dandy-Walker Syndrome diagnosed? The clinical presentation of the Dandy-Walker syndrome depends to some extent on the combination of the developmental anomalies in the infant. If no other anomalies are present the sole manifestation may be increasing head size secondary to hydrocephalus. The normal signs of increased intracranial pressure may be absent in infants secondary to the ability of the head to increase in size. In older children, cerebellar dysfunction (mainly affecting balance), mental impairment, and double vision may be found. The definitive diagnosis depends upon radiological intervention. Ultrasound, MRI, and CT scan will show the malformation.
Browse By Letter 'C' Volume IV 1) Caroli's disease (Volume VII) Carotid agenesis Carotid arteriography tonsilsin chiari i malformation cerebellar vermis Cerebellomedullary cistern http://eu.amershamhealth.com/medcyclopaedia/indexc.asp
Metabolic And Deficiency Disorders Of The CNS Mild form olfactory agenesis Lengthening and downward displacement through the foramenmagnum of the posterior vermis, cerebellar tonsils, posterior fourth http://edcenter.med.cornell.edu/CUMC_PathNotes/Neuropathology/Neuropath_II/dev2.
Extractions: Disorders of the CNS D evelopmental A nomalies Midline neural tube defects: Predominately anterior neural tube defects, occuring early in gestation. The anterior neural tube fails to close properly, or does not divide into two hemispheres. The generic name for this category of malformations is arrhinencephaly. Extreme form: Holoprosencephaly (holotelencephaly): (frontal) (caudal) There is a single cerebral hemisphere with single large ventricular cavity. Mild form: olfactory agenesis Absence of olfactory bulbs and tracts. Frequent associated defects in skull and face (Cleft palate, midline skull defects, cyclops (single eye)). Frequently (but not exclusively) seen in Trisomy 13. Posterior neural tube defects: Result from failure of closure of the posterior neural tube. Spina Bifida Dorsal laminas of vertebral bones (vertebral arches) fail to form. This is called spina bifida occulta, when the skin is closed over the defect. Neural tube (spinal cord and/or meninges) may communicate through the vertebral defect with the skin, which is open over the defect. The dura and arachnoid herniate through the defect in the vertebral arches. Meningomyelocele: spinal cord and/or spinal nerve roots also communicate with the skin; usually in the lumbar region. In a myelocele, there is often defective closure of the spinal cord, which may present as an open discoid plate or a cyst containing meninges and malformed spinal cord. The risk of infection (meningitis) demands prompt closure of the defect as soon as possible.
Future Research Directions In Joubert Syndrome congenital cataracts, hydrocephalus, corpus callosum agenesis, hepatic fibrosis Coresymptoms include cerebellar vermis hypoplasia, oligoprenia, ataxia, coloboma http://www.ninds.nih.gov/news_and_events/Joubert_Syndrome_2002.htm
Extractions: New Orleans, Louisiana This conference was funded by the National Institute of Neurologic Disorders and Stroke (NINDS), the Office of Rare Disorders, and the Joubert Syndrome Foundation. It took place on June 27-28, 2000 in New Orleans, and was a follow-up to a 1998 symposium on this disorder. Bernard L. Maria, M.D., M.B.A., chairperson, and Robert Finkelstein, Ph.D., Program Director, Neurogenetics Cluster, NINDS, outlined three goals for the conference. The first goal was to provide an overview of current knowledge during three sessions: clinical approaches to diagnosis and management, genetics of brain development and behavior, and Autism and Joubert syndrome. The second goal was to introduce established researchers from backgrounds in genetics, brain development, and behavior to the disorder. Finally, family representatives and research panelists were to engage in discussion culminating in the definition of future research goals.
Korean Journal Of Radiology more on the associated anomalies than on the callosal agenesis itself cleft lip orpalate, median cleft nose, hypertelorism, cerebellar vermis defects, frontal http://www.kjronline.org/abstract/view_articletext.asp?year=2002&page=140
Viewpoint On The Brain Disorder In Autism Cavanagh et al. (1997) discussed vulnerability of the cerebellar vermis as part of (1998) cited several reports of agenesis or thinning of the corpus callosum. http://www.conradsimon.org/AutismText.shtml
Ultrasound - Online CME Courses Of DandyWalker Malformation A cerebellar vermis defect (complete Splaying of thecerebellar hemispheres Other anomalies include agenesis of the corpus callosum http://www.gemedicalsystems.com/rad/us/education/msucmefh.html
Extractions: Introduction Congenital anomalies of the brain and skull are commonly encountered by the sonographer. Each year in the United States, approximately 6000 neonates are afflicated with one of these central nervous system (CNS) anomalies. These embryonic defects may be the most devastating for the infant, if not lethal. Using prenatal ultrasound, many anomalies of the brain may be detected. The brain has varying appearances, depending on the fetal age at the time of sonographic inspection. To recognize an abnormality in development, one should have a comprehensive understanding of the normal developmental appearance of the brain.
GE Ultrasound Online CME 24. Sonographic characteristics of agenesis of the corpus callosum include all except 25.A defect involving the cerebellar vermis with dilatation of the fourth http://apps.gemedicalsystems.com/apps3/us_cme/msufhqz.jsp
Praktická Gynekológia 3/2000 cystic dilatation of the IVth ventricle, communicating with the posterior fossacyst, (2) complete or partial agenesis of the cerebellar vermis, (3) enlarged http://www.elis.sk/gynek/gyn300.htm
Extractions: PRAKTICKÁ GYNEKOLÓGIA, 7, 2000, è. 3, s. 43 Intrauterinná senzibilizácia ¾udského plodu Dorota Stefanovic, Ján tefanoviè Prevalencia alergických ochorení podmienených tvorbou imunoglobulínu E (IgE) za posledné dve a tri desaroèia sa poválivo zvýila. Ukazuje sa, e rizikové faktory napomáhajúce vývoju alergických (atopických) ochorení pôsobia u skoro poèas intrauterinnej ontogenézy. pecifická imunita k alergénom sa jasne dokázala u poèas intrauterinného vývoja a tehotnos sa spája s pôsobením cytokínov Th2-buniek, èo umoòuje preitie plodu vrátane schopnosti odpoveda pecifickou imunitnou odpoveïou na prítomné alergény. Dozrievanie imunitného systému charakterizuje vybalancovaná imunita v pomere Th1/Th2, èo podmieòuje genetická výbava jedinca a úèinná modifikácia prostredia. Lepie poznanie dôleitých úsekov alergických ochorení sa stáva k¾úèovým problémom pre zavedenie potrebných preventívnych opatrení. Treba podporova kooperáciu medzi jednotlivými úsekmi medicíny s cie¾om pripravi nové diagnostické, lieèebné a preventívne monosti
ICP Monitors and may occur in up to 80%; complete agenesis occurs in Caudal displacement of cerebellartonsils. Yes. Caudal displacement of inferior vermis and IVth ventricle. http://www.ucch.org/sections/neurosurg/NeuroReview/11-Pediatrics/ChiariMalformat
Extractions: Chiari Malformations Definition Historical Arnold-Chiari malformation Classification of Chiari Malformations Type I Caudal displacement of cerebellar tonsils below foramen magnum. Type II Caudal displacement of the cerebellar vermis, IVth ventricle, and lower brainstem below foramen magnum, associated with myelodysplasia. Type III Caudal displacement of the cerebellum and brainstem into a high cervical meningocele. Type IV Cerebellar hypoplasia. Of questionable relation to the others. Embryology day 24 while the posterior neuropore closes 2-5 days later. As the neural tube closes, three flexures form shaping the cephalic end of the tube. First is the cephalic flexure, placing the forebrain at a right angle to the hindbrain. Then the cervical flexure forms. The pontine flexure forms last (about day 29) and is probably caused by increased growth within the rhombencephalon. Because of the pontine flexure formation, the thin roof of the rhombencephalon becomes creased transversely, and this fold is known as the plica chorioidea. It contains the choroid plexus that will come in direct contact with the ependymal lining, and ultimately correlate with the foramina of Luschka. All of the cerebellum will develop rostral to this line and come to overlie the posterior portion of the ventricular roof as a result of later explosive growth. rhombic lip . The paired cerebellar primordia are pushed upward and medially, meeting in the midline and starting their
Extractions: 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 [
Dandy-Walker Syndrome Selected references Bordarier, C, and Aicardi, J. DandyWalker Syndrome and Agenesisof the cerebellar vermis Diagnostic Problems and Genetic Counselling http://www.clevelandclinic.org/health/health-info/docs/1200/1269.asp?index=6002
Other Images cystic dilatation of the 4th ventricle. complete of partial agenesisof the cerebellar vermis. hydrocephalus (which may occur late). http://www.adhb.govt.nz/newborn/TeachingResources/Radiology/HUSS/NeonatalOtherHU
Extractions: Search Clinical Services Protocols Nursing Opportunities ... Polymicrogyria Vein of Galen Malformation Click on images to view larger images Vein of Galen malformations involve an aneurysmal dilatation of venous structures in the area of the vein of Galen, although anatomical studies suggest that the vessel involved is actually a primitive vascular structure (the median prosencephalic vein of Markowski) which usually disappears by 11 weeks gestation. There are usually multiple arterial connections to this structure, resulting in a large vascular mass in the central structures of the brain. Associated complications include congestive cardiac failure (secondary to high-output cardiac failure and myocardial ischaemia, with resultant cerebral ischaemia), hydrocephalus (from compression of the aqueduct), thrombosis of the vein of Galen with haemorrhagic infarction, massive haemorrhage from rupture of the aneurysm, and atrophy secondary to compression of adjacent structures by the intracranial vascular mass. Clinical examination usually reveals cardiac failure. A cranial bruit is usually heard. Despite the size of the lesion, neurological signs are unusual.
