Nota Clínica

Hydrocephalus due to hyperplasia of the choroid plexuses in a patient with trisomy 9 mosaicism. A real diagnostic and therapeutic challenge

P. Puerta-Roldán, A. Guillén-Quesada, R. Carrasco, J. Muchart, M. Serrano, E. Ferrer [REV NEUROL 2017;65:112-116] PMID: 28699153 DOI: https://doi.org/10.33588/rn.6503.2017114

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Volumen 65 | Number 03 | Nº of views of the article 8.359 | Nº of PDF downloads 269 | Article publication date 01/08/2017

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ABSTRACT

INTRODUCTION Trisomy 9 is an unusual chromosome abnormality in live-born patients, which is frequently accompanied by functional and structural anomalies of the central nervous system. Among many other alterations, several studies have been published in the English-speaking literature that show an association between chromosome 9 abnormality and pathologies affecting the choroid plexuses.

CASE REPORT We report the case of a 4-month-old male with trisomy 9 mosaicism associated to hydrocephalus secondary to choroid plexus hyperplasia, who was referred due to a clinical picture of intracranial hypertension. The cerebrospinal fluid (CSF) drainage procedure that was initially chosen caused massive ascites due to an excessive production of CSF, and led to a cascade of multiple surgical interventions, which included endoscopic and drainage procedures.

CONCLUSIONS This is another example of an association between choroid plexus pathologies and chromosome 9 abnormality. Due to its scarce incidence, diagnosis of hydrocephalus secondary to plexus hyperplasia is difficult, as is selecting its most suitable treatment. In this type of hydrocephalus there is a double pathophysiological mechanism, which involves an increase in CSF production and a decrease in its reabsorption. Despite taking these considerations into account, the treatment of hydrocephalus secondary to plexus hyperplasia is a real challenge that usually leads to multiple surgical interventions ranging from plexectomy or coagulation of the choroid plexuses to the implantation of CSF drainage devices. KeywordsChoroid plexus hyperplasia Coagulation of choroid plexuses Endoscopy Hydrocephalus Mosaicism Trisomy 9

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Nota Clínica

Hydrocephalus due to hyperplasia of the choroid plexuses in a patient with trisomy 9 mosaicism. A real diagnostic and therapeutic challenge

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