Nine de Planque

131 Ventriculomegaly and TH | Crouzon INTRODUCTION Crouzon syndrome is a type of syndromic craniosynostosis, with a prevalence of 0.1 per 10,000 live births.1 There is a lot of overlap between patients with Crouzon and Pfeiffer syndrome, both in phenotype and genetic mutations; we therefore consider them to be a homogenous group of varying severity of the same genetic defect and refer to them all as Crouzon patients. Crouzon syndrome is characterized by mutations in genes for fibroblast growth factor receptors type 1, 2, and 3.2 Clinically, they often present with multiple suture synostosis, exorbitism, and midface hypoplasia. Crouzon syndrome has a wide spectrum of disease severity, ranging from a mild phenotype to a severe phenotype requiring multiple surgeries to treat intracranial hypertension (ICH), or conditions that cause ICH such as ventriculomegaly or obstructive sleep apnea (OSA).3-7 Detecting and treating ICH is important because it can cause visual impairment and is thought to affect neurocognitive development.8 The wide range of severity and unpredictability of the outcome of surgical treatments in Crouzon syndrome can make treating the individual Crouzon patient difficult. Unexpected problems that can occur are worsening of exorbitism, progressive expansion of ventricles after skull vault expansion, and recurrence of ICH soon after initial treatment.7 This makes it difficult to decide which treatment is necessary at which moment. Repeat surgeries are related to hydrocephalus, cerebellar tonsillar herniation (TH), and their connection to ICH. Many theories have been postulated about the pathogenesis of TH and how it relates to ventriculomegaly.9, 10 Although there is no consensus about the sequence in which ventriculomegaly and TH occur, presence of either one is generally taken as a sign indicating a need for a closer follow-up.7, 11, 12 This study has three main aims: (1) to determine how ventriculomegaly and TH develop and progress over time, (2) to determine how ventriculomegaly and TH relate to one another, (3) to determine which clinical traits, if any, are associated with TH or ventriculomegaly. 8

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