Challenges in the pre- and post-natal diagnosis of posterior fossa cysts: A case report and review of historical evolution of descriptive terminologies

BACKGROUND: Radiological diagnoses of posterior fossa cystic abnormalities during antenatal and postnatal periods pose significant challenges as they may have similar early imaging features. Some of the frequently described entities are arachnoid cysts and Dandy-Walker malformations. Blake’s pouch cyst is relatively underdiagnosed. The main aim of the study was to explore these diagnostic challenges in the context of various descriptive terminologies and their prognostic implications. METHODS: We illustrate this through our case, where fetal magnetic resonance imaging (MRI) at 36 weeks gestation showed small right cerebellum without hydrocephalus or hemorrhage. Possible differential diagnoses included Dandy-Walker malformation or posterior fossa malformations, facial hemangiomas, arterial anomalies, cardiac and eye anomalies, sternal clefting, and supraumbilical raphe. RESULTS: Postnatal sonography noted posterior fossa cyst without hydrocephalus in a normal term infant, who went on to develop symptomatic hydrocephalus by 15 weeks. Computed tomography brain scan confirmed large subtentorial posterior fossa cyst and extensive internal hydrocephalus. Despite emergent ventriculoperitoneal shunt insertion, head circumference continued to rise. MRI scan showed persistent cyst. Subsequently, infant underwent endoscopic fenestration of the cyst with balloon septostomy and now has an age appropriate developmental profile. CONCLUSION: There is considerable discordance between antenatal and postnatal neuroimaging findings as highlighted in our case. Diagnostic conundrum here was whether this was an arachnoid or Blake’s pouch cyst. Differentiating between posterior fossa fluid collections is crucial for management, prognosis, and parental counseling. Close postnatal follow-up is essential to avert complications due to acute hydrocephalus.