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

Trevisi G, Frassanito P, Di Rocco C - Croat. Med. J. (2014)

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Paolo Frassanito, Pediatric Neurosurgery, Catholic University Medical School, Largo Agostino Gemelli 8, 00168 Rome, Italy, paolo.frassanito@gmail.com.

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.

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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).
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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).

Mentions: A 6-month-old male infant, born to non-consanguineous parents, presented with macrocrania, irritability, and multiple episodes of vomiting. He also had dysmorphic features, in particular low-set ears, hypertelorism with exorbitism, mandibular prognatism with inverted bite, and broad and varus big toes. The clinical diagnosis of Crouzon syndrome was confirmed by a genetic test, showing FGFR2 gene mutation. Head computed tomography (CT) scan showed a premature fusion of the squamosal and parieto-mastoid suture bilaterally with open sutures at the cranial vault (Figure 1). Brain magnetic resonance imaging (MRI) showed a moderate ventriculomegaly with wide pericephalic subarachnoid spaces and a small-sized posterior cranial fossa with low insertion of the tentorium without Chiari malformation or crowded appearance of the neural structures. Angio-MR sequences showed a normal venous pattern with a slight predominance of the right transverse sinus. Prolonged monitoring (48 hours) of the ICP via an intraparenchymal sensor showed pathologically high values. Thus, a ventriculoperitoneal shunt (VPS) was placed, with prompt resolution of the preoperative symptoms. Intraoperative CSF samples showed no evidence of infections.


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

Trevisi G, Frassanito P, Di Rocco C - Croat. Med. J. (2014)

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).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4157373&req=5

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).
Mentions: A 6-month-old male infant, born to non-consanguineous parents, presented with macrocrania, irritability, and multiple episodes of vomiting. He also had dysmorphic features, in particular low-set ears, hypertelorism with exorbitism, mandibular prognatism with inverted bite, and broad and varus big toes. The clinical diagnosis of Crouzon syndrome was confirmed by a genetic test, showing FGFR2 gene mutation. Head computed tomography (CT) scan showed a premature fusion of the squamosal and parieto-mastoid suture bilaterally with open sutures at the cranial vault (Figure 1). Brain magnetic resonance imaging (MRI) showed a moderate ventriculomegaly with wide pericephalic subarachnoid spaces and a small-sized posterior cranial fossa with low insertion of the tentorium without Chiari malformation or crowded appearance of the neural structures. Angio-MR sequences showed a normal venous pattern with a slight predominance of the right transverse sinus. Prolonged monitoring (48 hours) of the ICP via an intraparenchymal sensor showed pathologically high values. Thus, a ventriculoperitoneal shunt (VPS) was placed, with prompt resolution of the preoperative symptoms. Intraoperative CSF samples showed no evidence of infections.

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Paolo Frassanito, Pediatric Neurosurgery, Catholic University Medical School, Largo Agostino Gemelli 8, 00168 Rome, Italy, paolo.frassanito@gmail.com.

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.

Show MeSH
Related in: MedlinePlus