Short- and Long-Term Outcomes of Prenatally Diagnosed Dandy-Walker Malformation, Vermian Hypoplasia, and Blake Pouch Cyst

Dandy-Walker continuum, which includes Dandy-Walker malformation, vermian hypoplasia, and Blake pouch cyst, is among the most commonly diagnosed posterior fossa malformation by fetal magnetic resonance imaging (MRI). The objective of our retrospective study was to evaluate fetal and postnatal MRI scan and clinical outcomes. Seventy-two patients were identified; 40 patients had postnatal imaging and follow-up (7 Dandy-Walker malformation, 26 vermian hypoplasia, and 7 Blake pouch cyst). Although all patients with Dandy-Walker malformation required ventriculoperitoneal shunts and 66% were intubated at birth, none required tracheostomy tube and 2 of 5 surviving children had no neurologic deficits. Vermian hypoplasia was strongly associated with genetic conditions and cardiac malformations; odds of not ambulating normally were 12 times greater if a syndrome or injury was present. Echocardiogram and genetic screening are recommended with vermian hypoplasia. There is a risk for epilepsy in both Dandy-Walker malformation and vermian hypoplasia. Blake pouch cyst can be complicated by hydrocephalus, but outcome is favorable.

DANDY WALKER MALFORMATION: A RARE CASE REPORT

Dandy-Walker malformation (DWM) or syndrome is a posterior fossa anomaly characterized by agenesis or hypoplasia of the vermis and cystic enlargement of the fourth ventricle causing upward displacement of tentorium and torcula. Most patients have hydrocephalus at the time of diagnosis. DMW is the most common posterior fossa malformation, and it typically occurs sporadically. This is a case report of male fetus that was diagnosed to have Dandy Walker Malformation during the antenatal obstetric scans.

Hydrocephalus and Dandy- Walker Malformation: a review

Introduction: Dandy Walker malformation (DWM) is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle leading to an increase of the posterior fossa and superior dislocation of the lateral sinus, tentorium and torcula. Although it is the commonest posterior fossa malformation, its pathogenesis is still not fully understood, making the differential diagnosis with other posterior fossa malformations difficult and as a result the choice of therapeutic strategy. Material and methods: An extensive review of the literature relating to Dandy Walker malformation was performed. Historical, genetic, embryologic, epidemiologic, clinical and radiological presentation, treatment and prognosis were revised. Conclusion: The correct diagnosis of Dandy Walker malformation can be made through careful interpretation of magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) flow studies. The choice of hydrocephalus treatment depends on whether there is aqueduct stenosis. And, although ventriculoperitoneal (VP) shunts have been the treatment of choice for many years, neuroendoscopic techniques such as endoscopic thirdventriculostomy and stent placement are being frequently performed lately.

Ophthalmic Rete Mirabile: The First Angiographic Documentation of Embryonic Ophthalmic Collaterals in a Patient with Moyamoya Disease

Plexiform vascular networks of the rete mirabile in humans are rare but can be observed in some vertebrates such as cobaye, cat, cow and sheep. Each set of embryonic arteries can be a potential source of these vascular networks which reconstitute the distal flows in segmental agenesis of internal carotid or vertebral arteries especially in patients with PHACE (posterior fossa malformation of the brain, facial hemangiomas, arterial anomalies, cardiac anomalies with coarctation of aorta, and eye abnormalities) syndrome. Ophthalmic rete mirabile has been found in some mammals such as camel, deer and avian species of pigeon, Hawaiian seabirds and deep-water fish of the cod other than human.We describe the first human case of ophthalmic rete mirabile confirmed on angiography in a patient with moyamoya disease. These findings are the first description in the English literature as far as we know. The clinical implications with moyamoya disease will be briefly discussed according to the embryologic development of cranial arteries.