Presentation
Strengths with possible “problems expected at birth with advice on how to manage them are presented. Logical outline of management. [books.google.com]
In the present study 36 boys and a male fetus whose clinical features were consistent with L1 syndrome were analyzed by dHPLC assay and direct sequencing of L1CAM gene. [moh-it.pure.elsevier.com]
Some of the cases present associated microphthalmia [ 87 ], and/or microcornea [ 88, 92, 95 - 97 ]. [molvis.org]
The median age at presentation was 10 months; the reason for the study was psychomotor or mental delay (44%) followed by seizures (38.2%). [dialnet.unirioja.es]
Clinical presentation is dependent on the severity of the abnormality. In a classic Dandy-Walker malformation, patients usually manifest in the first year of life with symptoms of hydrocephalus and associated neurological symptoms. [radiopaedia.org]
Entire Body System
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Disability
[…] specialists involved in the management of the fetus and the neonate with the latest information on the developmental neurology and pathology of the developing central nervous system, so that they can provide prompt and informed treatment of neurological disability [books.google.com]
disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability, Najm type X-linked intellectual disability, Nascimento type X-linked intellectual disability, Pai type X-linked intellectual disability, [se-atlas.de]
We conclude that the dHPLC assay represents a fast and efficient method for the screening of L1CAM mutations and that L1 syndrome should be considered in the differential diagnosis of intellectual disability in children, especially when other signs such [moh-it.pure.elsevier.com]
Approximately three to five percent of children diagnosed with neurodevelopmental disabilities have AgCC. [thirteen.org]
"It's a hidden disability," says University of California Institute of Technology psychologist Lynn Paul. [blogs.scientificamerican.com]
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Pain
Elastography; Evaluation of Pelvic Masses; Evaluation of the First Trimester; Contrast-Enhanced Ultrasound of the Liver and Kidney; Interpreting Lower Extremity Non Invasive Physiological Studies; Sonography in Thyroid Cancer; Evaluation of Pelvic Pain [books.google.com]
Low perception of pain,. 8. sometimes seizures, spasticity, early feeding difficulties 22. • Associated syndromes • ACC can occur as an isolated condition or in combination with other cerebral abnormalities, including • Arnold-chiari malformation, • Dandy-walker [slideshare.net]
People with AgCC may have heightened sensitivity to some sensory cues such as certain types of touch or food textures, yet they typically have a high tolerance for pain. [thirteen.org]
Common characteristics and observed difficulties include: Developmental delays Poor motor coordination Atypical sensory processing with a high tolerance to pain Difficulties on multidimensional or multimodality tasks (including auditory integration tasks [bilinguistics.com]
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Swelling
Página 256 - Diffuse cerebral swelling following head injuries in children: the syndrome of "malignant brain edema". [books.google.es]
Serious problems are uncommon with a corpus callosotomy, but there are risks, including: Risks associated with surgery, including infection, bleeding, and an allergic reaction to anesthesia Swelling in the brain Lack of awareness of one side of the body [webmd.com]
On MRI, in the acute phase, the corpus callosum shows diffuse swelling and hyperintensity on T2W images [Figure 8]. In the chronic phase, the patients present with progressive dementia and interhemispheric disconnection. [ijri.org]
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Collapse
In the 18th century, the corpus callosum was considered the site of the soul (Maurice Ptito), and in the early 20th it was assigned the mere role of preventing the cerebral hemispheres from collapsing onto each other 3. [slideshare.net]
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Malingering
Malinger G, Lev D, Oren M, Lerman-Sagie T. Non-visualization of the cavum septi pellucidi is not synonymous with agenesis of the corpus callosum. Ultrasound Obstet Gynecol 2012;40:165-170. Barkovich AJ, Norman D. [iame.com]
Gastrointestinal
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Pelvic Mass
Articles include: 3D Sonography in Gynecologic Imaging; Elastography; Evaluation of Pelvic Masses; Evaluation of the First Trimester; Contrast-Enhanced Ultrasound of the Liver and Kidney; Interpreting Lower Extremity Non Invasive Physiological Studies [books.google.com]
Cardiovascular
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Heart Disease
This will range from the baby that is threatening to deliver prematurely or is severely growth restricted to those with significant abnormalities such as congenital heart disease, spina bifida or gastroschisis, etc. [books.google.com]
Some patients with ACC have also extraneural malformations involving the skull, eyes, and ears, congenital heart disease, skeletal defects, and other malformations. [neuropathology-web.org]
disease, genitourinary anomalies and absence of the corpus callosum. [keralamedicaljournal.com]
disease-neural tube defect syndrome Cataract-deafness-hypogonadism syndrome Cataract-hypertrichosis-intellectual disability syndrome Cataract-intellectual disability-anal atresia-urinary defects syndrome Cataract-intellectual disability-hypogonadism [se-atlas.de]
Psychiatrical
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Fear
[…] the management of the fetus and the neonate with the latest information on the developmental neurology and pathology of the developing central nervous system, so that they can provide prompt and informed treatment of neurological disability - the most feared [books.google.com]
Particularly troubling was one suggestion by the geneticist that his life be terminated so great was the fear that Sean would be born both physically and mentally handicapped. Needless to say he wasn't! [amazon.com]
While individuals with autism often fail to recognize fear and anger, they tend to mislabel anger as fear ( Pelphrey et al., 2002 ). [frontiersin.org]
Urogenital
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Scrotal Mass
Masses; Lower Extremity Venous Ultrasound Examination; and more! [books.google.com]
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Pelvic Pain
Imaging; Elastography; Evaluation of Pelvic Masses; Evaluation of the First Trimester; Contrast-Enhanced Ultrasound of the Liver and Kidney; Interpreting Lower Extremity Non Invasive Physiological Studies; Sonography in Thyroid Cancer; Evaluation of Pelvic [books.google.com]
Workup
There was no evidence of hypothalamic-pituitary dysfunction on endocrinolgical workup in both patients. [cags.org.ae]
[…] develop microcephaly Of note: Rett’s, Angelman’s and Fragile X should all be differentials for autism KLINEFELTER’S SYNDROME (XXY) Seen in males Tall stature, but “eunuchoid” after puberty (often diagnosed after puberty, sometimes in context of fertility workup [brainaacn.org]
J Med Genet 34: 582–586 PubMed Google Scholar Froster UG, Stallmach T, Wisser J et al. (1997) Lethal multiple pterygium. syndrome: Suggestion for a consistent pathological workup and review of reported cases. [link.springer.com]
X-Ray
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Posterior Fossa Cysts
fossa cyst, and posterior rotation of the cerebellar vermis. ( D ) Axial T2 image showing a midline posterior fossa cyst. ( E ) Axial T2 image of the brain showing right frontal periventricular heterotopias. ( F – H ) Pictures from AIC case family 7 [iovs.arvojournals.org]
There was associated agenesis of corpus callosum, ventriculomegaly and fourth ventricle communicating with posterior fossa cyst suggestive of Dandy-Walker malformation. There was hypoplasia of bilateral cerebellar hemispheres. [webmedcentral.com]
Five patients had small but morphologically normal cerebella with posterior fossa cysts ( Fig 2 ). Fig 1. Framework demonstrating the posterior fossa abnormalities in patients with posterior PNH. Fig 2. [ajnr.org]
fossa cysts syndrome Partington syndrome Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease, classic form Pelizaeus-Merzbacher disease, connatal form Pelizaeus-Merzbacher disease, transitional form [se-atlas.de]
Treatment
Focused on treatment: key points boxes pick out the most important information for the busy specialist. Evidence-based information: extensively referenced with the latest and most important papers and articles. [books.google.com]
Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]
Prognosis and treatment depend on the severity of neurological effects. Treatment is generally symptom-based, and there is no curative procedure. References Moe Paul G, Benke Timothy A, Bernard Timothy J, Levisohn Paul, "Chapter 23. [brighthub.com]
Treatment of acute hyperkalaemia in adults [PDF] This guideline has been developed to improve the treatment of acute hyperkalaemia and reduce the risk of complications associated with hyperkalaemia and its treatment. This guideline is a... [evidence.nhs.uk]
Prognosis
It is thought to carry a poorer prognosis if diagnosed prior to 21 weeks of gestation and a better prognosis if diagnosed postnatally 5. A cystoperitoneal shunt could be considered in situations where hydrocephalus is significant problem 7. [radiopaedia.org]
Diagnosis, Prognosis, and Treatment Diagnosis of ACC is done through imaging of the brain, which reveals a complete or partial abscence of these nerve fibers in the center of the brain. [brighthub.com]
Prognosis The prognosis for individuals with agenesis of the corpus callosum varies widely. If agenesis of the corpus callosum occurs alone, the prognosis is usually excellent. [encyclopedia.com]
Prognosis [ edit ] The prognosis varies widely from case to case, depending on the severity of the symptoms. [en.wikipedia.org]
Researchers are now trying to develop a genetic test that would offer 'some understanding of the clinical syndrome being presented in utero', in order to give parents a more accurate prognosis of their unborn child's condition. [abc.net.au]
Etiology
There are several types and classification (Dobyns and Leventer, 2003), based on associated malformations and etiologies. [webmedcentral.com]
Schizencephaly prevalence, prenatal diagnosis and clues to etiology: a register-based study. Ultrasound Obstet Grynecol 2012;39:75-82. Oh KY, Kennedy AM, Frias AE Jr, Byrne JL. [iame.com]
[…] associated with prematurity (especially as smaller premature infants continue to survive) and low birth weight; however, specific causes have not yet been identified Less than 15% result from a preventable obstetric injury CP is not a single entity and the etiology [brainaacn.org]
We excluded storage disorders such as mucopolysaccharidosis type IV, which can present from birth in the form of CCO, along with all other metabolic causes and storage disorders, as etiologically distinct. [molvis.org]
The etiological spectrum ranges from congenital, demyelinating, inflammatory, trauma to neoplasm and ischemia. [ijri.org]
Epidemiology
[…] and anatomical factors and clinical outcome in a series of 34 cases Enlaces Texto completo ( pdf ) Resumen Introduction The aim of our study is to describe the epidemiology, clinical evolution, and the anatomical and neurological factors involved in [dialnet.unirioja.es]
Epidemiology [ edit ] Worldwide prevalence of Aicardi syndrome is estimated at several thousand, with approximately 900 cases reported in the United States. [4] History [ edit ] This disorder was first recognized as a distinct syndrome in 1965 by Jean [en.wikipedia.org]
Am J Med Genet 71: 8–15 PubMed Google Scholar Rittler M, Paz JE, Castilla EE (1997) VATERL: an epidemiologic analysis of risk factors. [link.springer.com]
Pathophysiology
In this article, we describe the pathophysiology and present imaging findings of various typical/atypical conditions affecting the corpus callosum. [ijri.org]
Transient lesion in the splenium of the corpus callosum: three further cases in epileptic patients and pathophysiological hypothesis. J. Neurol. Neurosurg. Psychiatry, 2001, 70: 459–463. [degruyter.com]
Prevention
Página 310 - A randomized trial comparing ticlopidine hydrochloride with aspirin for the prevention of stroke in high-risk patients. [books.google.es]
In the 18th century, the corpus callosum was considered the site of the soul (Maurice Ptito), and in the early 20th it was assigned the mere role of preventing the cerebral hemispheres from collapsing onto each other 3. [slideshare.net]
[…] peri-natally, infancy, or early childhood); .2% incidence Can be associated with prematurity (especially as smaller premature infants continue to survive) and low birth weight; however, specific causes have not yet been identified Less than 15% result from a preventable [brainaacn.org]
Genetic abnormalities in the fetus may prevent the nerve fibers from growing correctly. In most cases, the exact cause of agenesis of the corpus callosum is unknown. [encyclopedia.com]
This confusion may prevent useful genotype-phenotype correlations from being identified and the true nature of this spectrum of diseases and associated genes from being revealed. [molvis.org]