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Review
. 2022 Jan;33(1):67-79.
doi: 10.1016/j.nec.2021.09.006.

Syndromic Hydrocephalus

Kaamya Varagur  1 , Sai Anusha Sanka  2 , Jennifer M Strahle  3
Affiliations
Review

Syndromic Hydrocephalus

Kaamya Varagur et al. Neurosurg Clin N Am. 2022 Jan.

Abstract

Hydrocephalus, the abnormal accumulation and impaired circulation/clearance of cerebrospinal fluid, occurs as a common phenotypic feature of a diverse group of genetic syndromes. In this review, we outline the genetic mutations, pathogenesis, and accompanying symptoms underlying syndromic hydrocephalus in the context of: L1 syndrome, syndromic craniosynostoses, achondroplasia, NF 1/2, Down's syndrome, tuberous sclerosis, Walker-Warburg syndrome, primary ciliary dyskinesia, and osteogenesis imperfecta. Further, we discuss emerging genetic variants associated with syndromic hydrocephalus.

Keywords: Hydrocephalus; Hydrocephalus genetics; Syndromic hydrocephalus.

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Conflict of interest statement

Disclosure The authors have nothing to disclose.

Figures

Figure 1.
Figure 1.
1-day-old with L1 syndrome resulting in hydrocephalus and aqueductal stenosis treated on day-of-life 1 with a VP shunt. T2-weighted MRI (A) sagittal and (B) axial views.
Figure 2.
Figure 2.
14-month-old with NF-1 presented with enlarged ventricles, transependymal CSF, and low tonsil position. Patient underwent Chiari decompression and subsequent treatment with ETV. T2-weighted MRI (A) sagittal and (B) axial views
Figure 3.
Figure 3.
1 day old with POMT-1 P273L Walker-Warburg syndrome, born at 35 weeks gestation. MRI A) sagittal (T1) and B) axial (T2) views showing hydrocephalus with tectal dysplasia contributing to aqueductal stenosis. This patient was treated with a VP shunt on day of life 4
See this image and copyright information in PMC

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