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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Aqueductal stenosis (AS)
Definitions
- Narrowing or occlusion at aqueduct of Sylvius causing obstructive hydrocephalus
- Hydrocephalus vs. ventriculomegaly
- Hydrocephalus
- Increased intraventricular pressure
- Increased ventricular size
- Increased head size
- Noncommunicating (obstructive)
- CSF flow blocked within ventricular system
- Communicating
- Failure of CSF resorption
- Ventriculomegaly
- Result of abnormal parenchymal development or destructive process
- Normal intraventricular pressure
- Increased ventricular size
- Head size normal or small
- Hydrocephalus
- Lateral ventricles measured at atria
- Normal: < 10 mm
- Mild dilation: 10-12 mm
- Moderate dilation: 12-15
- Severe dilation: > 15 mm
IMAGING
General Features
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
- Etchegaray A et al: Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus. Childs Nerv Syst. 36(8):1645-60, 2020
- Guo D et al: A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus. J Gene Med. e3180, 2020
- Alhousseini A et al: Familial hydrocephalus and dysgenesis of the corpus callosum Associated with Xp22.33 duplication and stenosis of the aqueduct of sylvius with X-linked recessive inheritance pattern. Gynecol Obstet Invest. 84(4):412-6, 2019
- Heaphy-Henault KJ et al: Congenital aqueductal stenosis: findings at fetal MRI that accurately predict a postnatal diagnosis. AJNR Am J Neuroradiol. 39(5):942-8, 2018
- Ouyang YS et al: Adducted thumb as an isolated morphologic finding: an early sonographic sign of impaired neurodevelopment: A STROBE compliant study. Medicine (Baltimore). 97(38):e12437, 2018
- Pisapia JM et al: Fetal ventriculomegaly: diagnosis, treatment, and future directions. Childs Nerv Syst. 33(7):1113-23, 2017
- Corral E et al: Prenatal three-dimensional ultrasound detection of adducted thumbs in X-linked hydrocephaly: two case reports with molecular genetic studies. Case Rep Obstet Gynecol. 2015:561713, 2015
- Emery SP et al: Accuracy of prenatal diagnosis of isolated aqueductal stenosis. Prenat Diagn. 35(4):319-24, 2015
- Emery SP et al: Fetal therapy for isolated aqueductal stenosis. Fetal Diagn Ther. 38(2):81-5, 2015
- Perlman S et al: Prenatal diagnosis of fetal ventriculomegaly: Agreement between fetal brain ultrasonography and MR imaging. AJNR Am J Neuroradiol. 35(6):1214-8, 2014
- Serikawa T et al: Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene. Congenit Anom (Kyoto). 54(4):243-5, 2014
- Whitehead MT et al: Rhombencephalosynapsis as a cause of aqueductal stenosis: an under-recognized association in hydrocephalic children. Pediatr Radiol. 44(7):849-56, 2014
- Spennato P et al: Endoscopic third ventriculostomy for idiopathic aqueductal stenosis. World Neurosurg. 79(2 Suppl):S21.e13-20, 2013
- Sacko O et al: Endoscopic third ventriculostomy: outcome analysis in 368 procedures. J Neurosurg Pediatr. 5(1):68-74, 2010
- D'Addario V et al: Sonographic diagnosis of fetal cerebral ventriculomegaly: an update. J Matern Fetal Neonatal Med. 20(1):7-14, 2007
- Kenwrick S et al: X linked hydrocephalus and MASA syndrome. J Med Genet. 33(1):59-65, 1996
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Aqueductal stenosis (AS)
Definitions
- Narrowing or occlusion at aqueduct of Sylvius causing obstructive hydrocephalus
- Hydrocephalus vs. ventriculomegaly
- Hydrocephalus
- Increased intraventricular pressure
- Increased ventricular size
- Increased head size
- Noncommunicating (obstructive)
- CSF flow blocked within ventricular system
- Communicating
- Failure of CSF resorption
- Ventriculomegaly
- Result of abnormal parenchymal development or destructive process
- Normal intraventricular pressure
- Increased ventricular size
- Head size normal or small
- Hydrocephalus
- Lateral ventricles measured at atria
- Normal: < 10 mm
- Mild dilation: 10-12 mm
- Moderate dilation: 12-15
- Severe dilation: > 15 mm
IMAGING
General Features
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
- Etchegaray A et al: Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus. Childs Nerv Syst. 36(8):1645-60, 2020
- Guo D et al: A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus. J Gene Med. e3180, 2020
- Alhousseini A et al: Familial hydrocephalus and dysgenesis of the corpus callosum Associated with Xp22.33 duplication and stenosis of the aqueduct of sylvius with X-linked recessive inheritance pattern. Gynecol Obstet Invest. 84(4):412-6, 2019
- Heaphy-Henault KJ et al: Congenital aqueductal stenosis: findings at fetal MRI that accurately predict a postnatal diagnosis. AJNR Am J Neuroradiol. 39(5):942-8, 2018
- Ouyang YS et al: Adducted thumb as an isolated morphologic finding: an early sonographic sign of impaired neurodevelopment: A STROBE compliant study. Medicine (Baltimore). 97(38):e12437, 2018
- Pisapia JM et al: Fetal ventriculomegaly: diagnosis, treatment, and future directions. Childs Nerv Syst. 33(7):1113-23, 2017
- Corral E et al: Prenatal three-dimensional ultrasound detection of adducted thumbs in X-linked hydrocephaly: two case reports with molecular genetic studies. Case Rep Obstet Gynecol. 2015:561713, 2015
- Emery SP et al: Accuracy of prenatal diagnosis of isolated aqueductal stenosis. Prenat Diagn. 35(4):319-24, 2015
- Emery SP et al: Fetal therapy for isolated aqueductal stenosis. Fetal Diagn Ther. 38(2):81-5, 2015
- Perlman S et al: Prenatal diagnosis of fetal ventriculomegaly: Agreement between fetal brain ultrasonography and MR imaging. AJNR Am J Neuroradiol. 35(6):1214-8, 2014
- Serikawa T et al: Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene. Congenit Anom (Kyoto). 54(4):243-5, 2014
- Whitehead MT et al: Rhombencephalosynapsis as a cause of aqueductal stenosis: an under-recognized association in hydrocephalic children. Pediatr Radiol. 44(7):849-56, 2014
- Spennato P et al: Endoscopic third ventriculostomy for idiopathic aqueductal stenosis. World Neurosurg. 79(2 Suppl):S21.e13-20, 2013
- Sacko O et al: Endoscopic third ventriculostomy: outcome analysis in 368 procedures. J Neurosurg Pediatr. 5(1):68-74, 2010
- D'Addario V et al: Sonographic diagnosis of fetal cerebral ventriculomegaly: an update. J Matern Fetal Neonatal Med. 20(1):7-14, 2007
- Kenwrick S et al: X linked hydrocephalus and MASA syndrome. J Med Genet. 33(1):59-65, 1996
