Idiopathic cerebrospinal fluid overproduction: case-based review of the pathophysiological mechanism implied in the cerebrospinal fluid production

Abstract

Cerebrospinal fluid (CSF) overproduction results from either CSF infection or choroid plexus hypertrophy or tumor, with only a single idiopathic case described so far. We report a unique case of a male infant with Crouzon syndrome who presented with intracranial hypertension, caused by up to 4-fold increase in CSF daily production. Conditions related to CSF overproduction, namely central nervous system infections and choroid plexus hypertrophy or tumor, were ruled out by repeated magnetic resonance imaging and CSF samples. Medical therapy failed to reduce CSF production and the patient underwent several shunting procedures, cranial expansion, and endoscopic coagulation of the choroid plexus. This article thoroughly reviews pertinent literature on CSF production mechanisms and possible therapeutic implications.

Figure 1

Patient picture at presentation (A). 3D reconstruction of computed tomography (CT) scan showed that the sutures of the cranial vault were widely open, while the squamosal suture, as well as parieto-mastoid suture, was fused bilaterally (arrows) (B).

Figure 2

Brain magnetic resonance imaging (MRI) at presentation showed ventricular dilation without apparent obstruction of the cerebrospinal fluid circulation (B),(C). MRI performed two months later ruled out shunt malfunction, but disclosed a crowded posterior cranial fossa with Chiari I malformation (C),(D), arrow.

Figure 3

Brain magnetic resonance imaging (MRI) after Gadolinium administration ruled out pathological conditions affecting the choroid plexuses (A),(B). Endoscopic pictures of the choroid plexus before (C) and during (D) the coagulation performed using the Thulium laser.