Related Experiment Video
Updated: Jul 2, 2026
08:42
Cox-Maze IV Procedure Concomitant with Valvular Surgery In Situs Inversus Dextrocardia: A Single-Center Experience in China
Published on: February 11, 2022
Fowler syndrome presenting as a Dandy-Walker malformation: a second case report
Mudher Al-Adnani1, Liina Kiho, Irene Scheimberg
1Department of Histopathology, The Royal London Hospital, England, United Kingdom. madnani8@hotmail.com
Summary
Fowler syndrome, a lethal neurological disorder, involves hydrocephalus and central nervous system destruction. This case highlights its presentation as a Dandy-Walker malformation in a consanguineous family, suggesting autosomal recessive inheritance.
Area of Science:
- Neurology
- Genetics
- Pediatric Pathology
Background:
- Fowler syndrome, characterized by proliferative vasculopathy and hydrocephalus-hydranencephaly, is a fatal neurological condition.
- The condition involves progressive destruction of central nervous system tissue.
- Autosomal recessive inheritance is suspected due to occurrence in consanguineous families and recurrence in both sexes.
Observation:
- This report details the second documented case of Fowler syndrome.
- The case presented as a Dandy-Walker malformation.
- The patient was from a consanguineous family.
Findings:
- Fowler syndrome is a rare, lethal condition.
- It is characterized by a unique proliferative vasculopathy leading to central nervous system destruction.
- The presentation as a Dandy-Walker malformation is unusual.
Implications:
- This case reinforces the genetic basis of Fowler syndrome, likely autosomal recessive.
- It expands the known phenotypic spectrum of Fowler syndrome.
- Further research into the genetic and molecular mechanisms of proliferative vasculopathies is warranted.