Abstract
Fetal ventriculomegaly is a common referral for prenatal MRI, with possible etiologies being hydrocephalus and hydranencephaly. The underlying cause of hydranencephaly is unknown, but many have suggested that the characteristic supratentorial injury is related to idiopathic bilateral occlusions of the internal carotid arteries from an acquired or destructive event. Fowler syndrome is a rare genetic disorder that causes fetal akinesia and a proliferative vasculopathy that can result in an apparent hydranencephaly–hydrocephaly complex. On prenatal imaging, the presence of significant parenchymal loss in the supratentorial and infratentorial brain is a clue to the diagnosis, which should prompt early genetic testing.
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References
Cecchetto G, Milanese L, Giordano R et al (2013) Looking at the missing brain: hydranencephaly case series and literature review. Pediatr Neurol 48:152–158
Pavone P, Pratico AD, Vitaliti G et al (2014) Hydranencephaly: cerebral spinal fluid instead of cerebral mantles. Ital J Pediatr 40:79
Fowler M, Dow R, White TA et al (1972) Congenital hydrocephalus-hydrencephaly [sic] in five siblings with autopsy studies: a new disease. Dev Med Child Neurol 14:173–188
Meyer E, Ricketts C, Margan NV et al (2010) Mutations in the FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). Am J Hum Genet 86:471–478
Thomas S, Encha-Razavi F, Devisme L et al (2010) High-throughput sequencing of the 4.1 MB linage interval reveals FLVCR2 deletions and mutation in lethal cerebral vasculopathy. Hum Mutat 31:1134–1141
Duffy SP, Shing J, Saraon P et al (2010) The Fowler syndrome-associated protein FLVCR2 is an importer of heme. Mol Cell Biol 30:5318–5324
Williams D, Patel C, Fallet-Bianco C et al (2009) Fowler syndrome — a clinical, radiological and pathological study of 14 cases. Am J Med Genet A 152A:153–160
Al-Adnani M, Kiho L, Scheimberg I (2009) Fowler syndrome presenting as a Dandy Walker malformation: a second case report. Pediatr Dev Pathol 12:68–72
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Kline-Fath, B.M., Merrow, A.C., Calvo-Garcia, M.A. et al. Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus. Pediatr Radiol 48, 1032–1034 (2018). https://doi.org/10.1007/s00247-018-4106-z
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DOI: https://doi.org/10.1007/s00247-018-4106-z