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Autosomal Recessive Non-Syndromic Hydrocephalus

Congenital Hydrocephalus


Presentation

  • Acronym HYC1 Synonyms Hydrocephalus, non-syndromic, autosomal recessive 1 Hydrocephaly Ventriculomegaly Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age.[books.google.com]
  • The fetus was born via cesarean delivery after the presentation of the other cases. Fig. 1 A family pedigree connected the three cases.[thieme-connect.com]
  • Those who survive childbirth present with general failure to thrive, bone marrow failure or characteristic facies.[radiopaedia.org]
  • They are less likely to present with lens dislocation. Key learning points Marfan syndrome can present with severe cardiac problems. Marfan syndrome can present in a very similar way to Homocystinuria and Ehler Danlos syndrome.[www2.le.ac.uk]
Fatigue
  • The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Previous 1 2 3 4 ... 7 Next Last[checkrare.com]
Hunting
  • Hunt 3 Section of Maternal Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Manitoba, Winnipeg, Manitoba, Canada › Author Affiliations Abstract Background Congenital hydrocephalus is a common and often disabling[thieme-connect.com]
Cesarean Section
  • For this reason, cesarean section before the onset of labor and before rupture of the membranes is the preferred method of delivery of Chiari II babies.[neuropathology-web.org]
Urinary Incontinence
  • Definition (MSH) Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.[fpnotebook.com]
Intracranial Hemorrhage
  • In general, the causes of hydrocephalus are heterogeneous and the majority of cases are secondary to neural tube defects, intracranial hemorrhages, trauma, tumors, teratogens or brain malformations.[dnatesting.uchicago.edu]
  • hemorrhage in asymptomatic neonates: prevalence on MR images and relationship to obstetric and neonatal risk factors, Radiology, 2007, vol. 242 (pg. 535 - 41 ) Cerebral CT scan alterations in children with ocular lesions caused by congenital toxoplasmosis[academic.oup.com]
Areflexia
  • Chromosome 5q14.3 deletion syndrome 613443 600662 Autosomal dominant MEFV 16p13.3 Familial Mediterranean fever, AD 134610 608107 Autosomal dominant MEFV 16p13.3 Familial Mediterranean fever, AR 249100 608107 Autosomal recessive MEGF10 5q23.2 Myopathy, areflexia[mnglabs.com]
Mental Deterioration
  • There is severe motor and mental deterioration, leading to decerebration and death by age 2 years.[mendelian.co]

Treatment

  • Treatment involves the surgical placement of a ventriculoperitoneal shunt that diverts the flow of CSF, allowing it to be absorbed as part of the normal circulatory process.[cags.org.ae]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Walsh, along with a multi-disciplinary team of contributors guide you through the sweeping developments in diagnosis and treatment of the mother fetus, and neonate.[books.google.de]
  • 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]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]

Prognosis

  • Prognosis of the disorder depends on early diagnosis and treatment. The disorder can be diagnosed by clinical neurological evaluations and by imaging techniques such as ultrasonography, CT, MRI, or pressure-monitoring techniques.[cags.org.ae]
  • Prenatal diagnosis can then allow appropriate patient counselling regarding prognosis as well as obstetrical and neonatal care.[thieme-connect.com]
  • Renier D, Sainte-Rose C, Pierre-Kahn A, et al (1988) Prenatal hydrocephalus: outcome and prognosis. Child Nerv Syst 4:213 CrossRef Google Scholar 53.[link.springer.com]
  • Prognosis Prognosis for DWM varies anywhere from excellent to fatal.[encyclopedia.com]
  • The prognosis for those who are not treated is poor, especially in children who have early visual and hematologic impairment 5. autosomal dominant osteopetrosis ( bone-within-a-bone appearance is AD) chronic renal failure oxalosis pyknodysostosis physiological[radiopaedia.org]

Etiology

  • Conclusions Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care.[thieme-connect.com]
  • The etiologies of congenital hydrocephalus include infections, vascular abnormalities, mechanical obstruction and chromosomal abnormalities.[omicsonline.org]
  • The etiology of hydrocephalus depends upon the age of the child.[clinicalgate.com]
  • Genetic Etiology X-linked hydrocephalus (L1 syndrome) and its variants First described in 1949, linked to X chromosome in 1961: An X-linked syndrome characterized by congenital hydrocephalus, stenosis of the aqueduct, adducted thumbs, and spastic paraparesis[ispn.guide]
  • Harrod MJE, Friedman JM, Santos-Ramos R, Trutledge, Weinberg A (1984) Etiologic heterogeneity of fetal hydrocephalus diagnosed by ultrasound. Am J Obstet Gynecol 150:38–40 PubMed Google Scholar 30.[link.springer.com]

Epidemiology

  • Stein SC, Feldman JG, Stewart A, et al (1981) The epidemiology of congenital hydrocephalus: a study in Brooklyn, N.Y. 1958–1976. Child Brain 8:253 Google Scholar 62.[link.springer.com]
  • 1 1 Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark Search for other works by this author on: Klaus Rostgaard Marie-Louise Hee Rasmussen 1 1 Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark[academic.oup.com]
  • An epidemiological study based on 270 probands. Z Kinderchir 1984; 39(2): 94-95. Stoll C, Alembik Y, Dott B et al. An epidemiological study of environmental and genetic factors in congenital hydrocephalus. Eur J Epidemiol 1992; 8: 797-803.[bioline.org.br]
  • Relevant External Links for MPDZ Genetic Association Database (GAD) MPDZ Human Genome Epidemiology (HuGE) Navigator MPDZ Atlas of Genetics and Cytogenetics in Oncology and Haematology: MPDZ No data available for Genatlas for MPDZ Gene SynGAP-MUPP1-CaMKII[genecards.org]
  • Congenital malformations in singletons : epidemiologic survey. Birth Defects 1974; 10: 1-58. 5. Aicardi J. Abnormalities associated with migration disorders, In: Aicardi J, Bax M, Gillberg C, Ogler H editors.[neurosciencesjournal.org]
Sex distribution
Age distribution

Pathophysiology

  • According to Bateman, venous hypertension should be considered as the most crucial factor in the pathophysiology of LIAS.[ispn.guide]
  • Etiology and Pathophysiology Hydrocephalus can be a symptom of a large number of disorders, and a list of conditions in which it has been reported is summarized in Box 27-1.[clinicalgate.com]
  • Pathophysiology, diagnosis, and clinical features of hydrocephalus in infants and children. Tindall GT, Cooper PR, Barrow DL (eds): The Practice of Neurosurgery. Baltimore, Williams & Wilkins, 1996, pp 2689-2705. Adams C, Johnston WP, Nevin NC.[bioline.org.br]

Prevention

  • Currently, there are no specific methods or guidelines to prevent VACTERL with Hydrocephalus, since it is a genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus[dovemed.com]
  • Today, with prompt diagnosis and shunting, permanent neurological damage can be prevented in most cases.[neuropathology-web.org]
  • Prevention A study of antenatal ultrasound screening in 12 European countries has shown that a great many abnormalities of the renal tract may be detected in the second trimester, allowing termination of pregnancy to be considered. [ 13 ] There is considerable[patient.info]
  • However, some infants with definite hydrocephalus exhibit no such signs, as hydrocephalus may have developed slowly and the splaying of the sutures may have prevented the intracranial pressure from increasing considerably.[clinicalgate.com]
  • Barbara then came back to discuss the pros and cons of preventative breast and ovarian surgery. At this point she has decided to continue with her normal screening.[www2.le.ac.uk]

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