Indian Pediatrics - Case Reports to describe this syndrome which included episodic hyperpnea, abnormal eye movements,ataxia and mental retardation with agenesis of cerebellar vermis in 4 http://www.indianpediatrics.net/sept2001/sept-1045-1049.htm
Entrez PubMed Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea,abnormal eye movements, ataxia, and retardation. Joubert http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra
Entrez PubMed DandyWalker syndrome and agenesis of the cerebellar vermis diagnosticproblems and genetic counselling. Bordarier C, Aicardi J http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra
Radiology Syllabus Dandy-Walker Complex Eversion of the cerebellar vermis over the posteriorfossa cyst; Hypoplasia of thecerebellar hemispheres; cerebellar dysplasia; Dysgenesis or agenesis of the http://oasis.rad.upenn.edu/~herskovi/Radiology_Syllabus/Neuroradiology/Entities/
CHDD Center - Joubert Syndrome REA and DandyWalker variants, a relatively prevalent group of hindbrain disorders consistingof partial agenesis of the cerebellar vermis, cystic dilatation of http://depts.washington.edu/chdd/MRDDRC/REAs/JoubertREA.html
Extractions: Coordinator: Phillip F. Chance, MD In addition, there are several related conditions with retinal, renal, and/or hepatic manifestations that share the molar tooth sign on MRI, thereby increasing the prevalence of this distinctive hindbrain malformation. Other developmental disorders of the cerebellum of interest to this Research Emphasis Area (REA) that are distinct from the molar tooth group of disorders include the Dandy-Walker malformation and Dandy-Walker variants, a relatively prevalent group of hindbrain disorders consisting of partial agenesis of the cerebellar vermis, cystic dilatation of the 4th ventricle of the brain, and hydrocephalus. Pontocerebellar hypoplasia and cerebellar hypoplasia are poorly understood disorders characterized by congenital malformations and/or early-onset atrophy of the pons and/or cerebellum, a heterogeneous group of conditions which may be associated with other birth defects in some cases. In contrast to the dogma that the cerebellum has a limited role in cognitive development, learning delays and/or mental retardation are almost universal in individuals with Joubert syndrome and many of these cerebellar malformation conditions. The Joubert syndrome REA represents an interdisciplinary collaboration by investigators with the shared purpose to understand cerebellar malformation conditions and their impact on learning.
Baylor Neurology Case Of The Month Dennis R. Mosier, MD, PhD. References Joubert M, Eisenring JJ,Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. http://www.bcm.tmc.edu/neurol/challeng/pat59/summary.html
Extractions: This 6 week old boy experienced intermittent severe tachypnea and episodic central apnea since birth. On examination, he exhibited axial hypotonia and intermittently disconjugate eye movements, but no evidence of facial, cranial, or limb dysmorphism. No infectious, metabolic, or cardiopulmonary cause of tachypnea was identified on screening tests. No history of familial consanguinity or congenital abnormalities was elicited. On neuroimaging studies, absence of the cerebellar vermis was evident. The superior cerebellar peduncles were arrayed perpendicular to the brainstem, together with accentuated depth of the interpeduncular fossa, giving a characteristic "molar tooth" sign on axial images. These clinical and radiographic findings are highly suggestive of the syndrome of cerebellar vermian dysgenesis described by Joubert et al. (1969).
CNS MALFORMATIONS u DandyWalker malformation - enlarged posterior fossa, high position of the tentorium,hypogenesis or agenesis of the cerebellar vermis, cystic dilatation of http://128.100.71.82/neurosurgery/jay.html
Edu1.com , Education First agenesis of the cerebellar vermis A congenital anomaly of the cerebellumcharacterized by partial or complete agenesis of the vermis. http://www.edu1.com/edu1/directory/cat.asp?id=6789&u=A
Extractions: Program Nr: 973 Prenatally diagnosed isolated Dandy-Walker variant associated with 4p- and 6p- karyotypes. L. Hunnisett , A. Toi , E. Winsor , S. Blaser , D. Chitayat 1) Prenatal Diagnosis Program, The University Health Network; 2) Department of Diagnostic Imaging, The University Health Network; 3) Department of Laboratory Medicine, University Health Network; 4) Department of Radiology, Hospital for Sick Children; 5) University of Toronto, Toronto, Ontario, Canada.
Repository Object Viewer Absence of the infereior cerebellar vermis with cystic dilitation of the fourthventricle Also seen is commonly are encephaloceles and agenesis of the corpus http://www.mypacs.net/cgi-bin/repos/mpv3_repo/wrm/repo-view.pl?cx_subject=325159
AJR -- Sign In Page fontanelle image reveals possible inferior vermian agenesis. ventricle (long arrow)by vermis (curved arrows part of contralateral cerebellar hemisphere (small http://www.ajronline.org/cgi/content/figsonly/174/2/561
Judy Lavin "In The News" arhinencephaly), hypoplasia of optic nerves and chiasm, agenesis of corpus roofelements, including caudal third ventricle, cerebellar vermis and fourth http://www.parentingchallenges.com/pages/news.htm
Extractions: According to the Harvard Mental Health Letter (Vol. 19, number 11, May 2003), the child of a person who attempts or has committed suicide has six times the average risk of committing suicide. In addition, 13 per of those with an identical twin who commits suicide, also take their own lives, compared to less than one percent of fraternal twins in that situation. A new French study reports in Pediatrics 2002 and Journal Watch, Jan 15, 2003, that babies who are breast fed suffer less pain from invasive procedures. The study included 180 full-term infants and their moms. Using a reliable and validated neonatal pain scale, Journal Watch reported, that the median pain scores on a 1 to 10 point scale were significantly lower in the breast fed infant group than in other groups. The study also found that the 1 in 3 infants who were fed oral glucose instead of breast milk had an almost as effective result in pain reduction as those who were breast fed. This study suggests that the breast is still best.
Case Based Pediatrics Chapter The DandyWalker malformation is a cystic dilatation of the fourth ventricle followingpartial or complete agenesis of the cerebellar vermis, which leads to http://www.hawaii.edu/medicine/pediatrics/pedtext/s18c09.html
Extractions: A 12 week old female infant presents to the emergency department with progressive vomiting, lethargy, and difficulty feeding over the past two days. Her mother reports that the infant has been increasingly irritable in the last week, and does not appear to be herself. She has been less interactive, and her cry has become more high-pitched and weak. She has not been breastfeeding well. Additionally, her mother is concerned because she thinks her infant's head has grown, and the "soft spot" on her head appears more tense. She thinks that the infant has felt "warm", but she has not measured the temperature with a thermometer. The infant has had fewer wet diapers and no bowel movements today. She reports that the infant was born on time and that there were no prenatal or perinatal complications. The infant was released after a 48 hour stay in the regular newborn nursery, and had follow-up initially with her pediatrician about one week after discharge. She has had no further follow-up. From the previous medical records it is confirmed that the infant was born at term. There was poor prenatal care, but the labor and delivery were unremarkable. Mother's prenatal labs were normal. The infant weighed 2900 grams at birth (25th percentile), measured 47.8 cm in length (10th - 25th percentile), and had a head circumference of 34 cm (25th percentile).
Special Child: Disorder Zone Archives - Dandy-Walker Syndrome or complete) of the cerebellar vermis (area between the cerebellar dysfunction causingataxia and nystagmus; Bulging Abnormal breathing patterns; agenesis of the http://www.specialchild.com/archives/dz-021.html
Extractions: Cheyanne Hathaway Introduction Dandy-Walker syndrome (DWS) is a congenital (present at birth) brain malformation typically involving the fourth ventricle and the cerebellum. The disorder was first described in 1914 by W. Dandy and K. Blackfan and was designated as Dandy-Walker syndrome in 1954 by C. Benda, who also reported familial occurrence. DWS occurs in one out of every 25,000 live births and occurs more frequently in females than males. Features and Characteristics The following characteristics have been seen in children with Dandy-Walker syndrome: Enlargement of the fourth ventricle Absence (partial or complete) of the cerebellar vermis (area between the two cerebral hemispheres) Cyst formation in the posterior fossa (internal base of the skull) Slow motor development in early infancy Progressive macrocrania (abnormally enlarged skull) Hydrocephalus Seizures Intracranial pressure in older children, causing irritability, vomiting, and convulsions Cerebellar dysfunction causing ataxia and nystagmus Bulging occiput (back of head) Cranial nerve dysfunction Abnormal breathing patterns Agenesis of the corpus callosum Malformations of the face, limbs, digits, and heart
Microcephaly Trisomy 13. Xeroderma Pigmentosum. Non Genetic. 1. Congenital CNS Anomalies. agenesisof the cerebellar vermis; agenesis of the Corpus Callosum; Craniosynostosis; 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.
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.
Dandy-Walker Syndrome partial or complete) of the cerebellar vermis (the narrow and/or signs of cerebellardysfunction such as system structural anomalies including agenesis of the http://healthlink.mcw.edu/article/921724673.html
Extractions: Subscribe now >> Dandy-Walker syndrome is a congenital brain malformation involving the fourth ventricle and cerebellum. It is defined as an enlargement of the fourth ventricle, an absence (partial or complete) of the cerebellar vermis (the narrow middle area between the two cerebral hemispheres), and cyst formation in the posterior fossa (the internal base of the skull). Hydrocephalus (increased intracranial pressure) may also be present. Symptoms which often occur in early infancy include slow motor development and progressive macrocrania (an abnormally enlarged skull). In older children symptoms of increased intracranial pressure such as irritability, vomiting and convulsions, and/or signs of cerebellar dysfunction such as ataxia and nystagmus (jerky eyes) may occur. The syndrome can appear dramatically or be totally asymptomatic. Other symptoms include increased head circumference, bulging occiput (the back of the head), cranial nerve dysfunction, and abnormal breathing patterns.
KoreaMed - Basic Search Korean. A Case of Joubert Syndrome Associated with Nephrocalcinosis and Agenesisof cerebellar vermis. Kim JH, Shin HK, Yoo KH, Hong YS, Lee JW, Kim SK. http://www.koreamed.org/SearchBasic.php?RID=85587&DT=1&QY=J Korean Soc Pediatr
