Unveiling Dandy-Walker syndrome: A surprising twist in the tale of acute hydrocephalus and Down syndrome child

Abstract

The correlation between Down syndrome and Dandy-Walker syndrome is an exceptionally uncommon occurrence. To date, only four cases have been documented. All previously reported cases involved individuals under the age of 37 months, with prenatal or birth diagnoses. Additionally, most of these cases displayed a limited life expectancy and experienced poor developmental outcomes. In this report, we present the first-ever instance of an 11-year-old male patient, previously undiagnosed with Dandy-Walker syndrome, who presented with acute intracranial hypertension. Magnetic Resonance Imaging revealed an active hydrocephalus caused by a Dandy-Walker malformation. The patient's condition was effectively managed through the implementation of a ventriculo-cysto-peritoneal shunt. This case highlights the coexistence of Dandy-Walker syndrome and Down syndrome in an asymptomatic young patient. Furthermore, it demonstrates that active hydrocephalus in such cases can be successfully addressed through either endoscopic third ventriculostomy or ventriculo-cysto-peritoneal shunt procedures.

Keywords: Dandy Walker; Down syndrome; Hydrocephalus; Intracranial hypertension; Pediatric; VP-shunting.

Fig. 1

Preoperative MRI. A: Axial T1 showing lateral ventricular dilatation B& C: Axial T2 showing third ventricular dilatation with Dandy Walker Malformation D: Sagittal T1 showing: the Dandy-Walker Malformation with hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle with important enlargement of the posterior fossa.

Fig. 2

Postoperative CT scanner. A:Lateral Scout View showing cyst draining catheter connected through a T connector to the ventricular catheter and both connected to an adjustable pressure Sophysa Shunt Valve then to the peritoneal catheter. B:Axial CT view showing the Right occipital ventricular catheter with major decrease of the size of the ventricles with small bilateral subdural hygromas C&D: Axial CT view showing the cyst catheter with a major decrease of the size of the fourth ventricule cystic cavity.