Congenital hydrocephalus is one of the most common CNS congenital anomalies. The incidence of congenital hydrocephalus is estimated as 3 per 1,000 live births. Hydrocephalus is defined as an increase in the cerebral spinal fluid (CSF) volume within the ventricular system independent of the actual head circumference.
Genetics/Basic Defects
- 1.
Physiology of CSF production and absorption
- a.
Production of CSF: by choroid plexus of lateral ventricles
- b.
Pathway of CSF flow
- i.
From lateral ventricles to third ventricle through foramen of Monro
- ii.
From third ventricle to fourth ventricle through aqueduct of Sylvius
- iii.
Out of the ventricular system: from fourth ventricle to spinal subarachnoid spaces through foramen of Magendie or to the basal cisterns through two lateral foramina of Luschka
- i.
- c.
Site of CSF resorption into venous system: primarily through superior sagittal sinus via arachnoid granulations
- a.
- 2.
Types and causes of hydrocephalus
- a....
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References
Al-Anazi, A., Al-Mejhim, F., & Al-Qahtani, N. (2008). In uteroventriculo-amniotic shunt for hydrocephalus. Child's Nervous System, 24, 193–195.
Aronyk, K. E. (1993). The history and classification of hydrocephalus. Neurosurgery Clinics of North America, 4, 599–609.
Barkovich, A. J., & Edwards, M. S. (1992). Applications of neuroimaging in hydrocephalus. Pediatric Neurosurgery, 18, 65–83.
Bradley, W. G., Jr. (2001). Diagnostic tools in hydrocephalus. Neurosurgery Clinics of North America, 12, 661–684.
Burton, B. K. (1979). Recurrence risks for congenital hydrocephalus. Clinical Genetics, 16, 47–53.
Del Bigio, M. R. (2001a). Future directions for therapy of childhood hydrocephalus: A view from the laboratory. Pediatric Neurosurgery, 34, 172–181.
Del Bigio, M. R. (2001b). Pathophysiologic consequences of hydrocephalus. Neurosurgery Clinics of North America, 12, 639–649.
Dias, M. S., & Li, V. (1998). Pediatric surgery for the primary care pediatrician, Part II. Pediatric neurosurgical disease. Pediatric Clinics of North America, 45, 1539–1578.
Epstein, F. (1985). How to keep shunts functioning, or ‘the impossible dream’. Clinical Neurosurgery, 32, 608–631.
Fernell, E., Uvebrant, P., & von Wendt, L. (1987). Overt hydrocephalus at birth-origin and outcome. Child's Nervous System, 3, 350–353.
Finckh, U., & Gal, A. (2000). Prenatal molecular diagnosis of L1-spectrum disorders. Prenatal Diagnosis, 20, 744–745.
Futagi, Y., Suzuki, Y., Toribe, Y., et al. (2002). Neurodevelopmental outcome in children with fetal hydrocephalus. Pediatric Neurology, 27, 111–116.
Golden, J. A., & Bonnemann, C. G. (1999). Developmental structural disorders, Ch 28. In G. Goetz (Ed.), Textbook of clinical neurology (1st ed., pp. 510–537). Philadelphia: WB Saunders.
Habib, Z. (1981). Genetics and genetic counselling in neonatal hydrocephalus. Obstetrical and Gynecological Survey, 36, 529–534.
Hamid, R. K. A., & Newfield, P. (2001). Pediatric neuroanesthesia. Hydrocephalus. Anesthesiology Clinics of North America, 19, 207–218.
Harrod, M. J. E., Friedman, J. M., Santos-Ramos, R., et al. (1984). Etiologic heterogeneity of fetal hydrocephalus diagnosed by ultrasound. American Journal of Obstetrics and Gynecology, 150, 38–40.
Haverkamp, F., Wölfle, J., Aretz, M., et al. (1999). Congenital hydrocephalus internus and aqueduct stenosis: Aetiology and implications for genetic counseling. European Journal of Pediatrics, 158, 474–478.
Hudgins, R. J., Edwards, M. S., Goldstein, R., et al. (1988). Natural history of fetal ventriculomegaly. Pediatrics, 82, 692–697.
Jouet, M., Rosenthal, A., Armstrong, G., et al. (1994). X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nature Genetics, 7, 402–407.
Kanev, P. M., & Park, T. S. (1993). The treatment of hydrocephalus. Neurosurgery Clinics of North America, 4, 611–619.
Kestle, J. R. W. (2003). Pediatric hydrocephalus: Current management. Neurologic Clinics, 21, 883–895.
Kirpatrick, M., Engleman, H., & Minns, R. A. (1989). Symptoms and signs of progressive hydrocephalus. Archives of Disease in Childhood, 64, 124–128.
Milhorat, T. (1996). Hydrocephalus: Pathophysiology and clinical features. Neurosurgery, 3, 3625–3632.
Pattisapu, J. V. (2001). Etiology and clinical course of hydrocephalus. Neurosurgery Clinics of North America, 12, 651–659.
Pomili, G., Donti, G. V., Carrozza, L. A., et al. (2000). MASA syndrome: Ultrasonographic evidence in a male fetus. Prenatal Diagnosis, 20, 1012–1014.
Pudenz, R. H. (1981). The surgical treatment of hydrocephalus–a historical review. Surgical Neurology, 15, 15–26.
Rickert, C. H., & Paulus, W. (2001). Tumors of the choroid plexus. Microscopy Research and Technique, 52, 104–111.
Rosseau, G. L., McCullough, D. C., & Joseph, A. L. (1992). Current prognosis in fetal ventriculomegaly. Journal of Neurosurgery, 77, 551–555.
Schrander-Stumpel, C., & Fryns, J.-P. (1998). Congenital hydrocephalus: Nosology and guidelines for clinical approach and genetic counselling. European Journal of Pediatrics, 157, 355–362.
Senat, M. V., Bernard, J. P., Delezoide, A., et al. (2001). Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases. Prenatal Diagnosis, 21, 1129–1132.
Sztriha, L., Vos, Y. J., Verlind, E., et al. (2002). X-linked hydrocephalus: A novel missense mutation in the L1CAM gene. Pediatric Neurology, 27, 293–296.
Thompson, N. M., Fletcher, J. M., Chapieski, L., et al. (1991). Cognitive and motor abilities in preschool hydrocephalics. Journal of Clinical and Experimental Neuropsychology, 13, 245–258.
Váradi, V., Tóth, Z., Török, O., et al. (1988). Heterogeneity and recurrence risk for congenital hydrocephalus (ventriculomegaly): A prospective study. American Journal of Medical Genetics, 29, 305–310.
Weller, S., & Gärtner, J. (2001). Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. Human Mutation, 18, 1–12.
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(2012). Congenital Hydrocephalus. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_53
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