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Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?

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Abstract

Introduction

The precise incidence of hydrocephalus in patients with mucopolysaccharidoses (MPS) is hard to determine, because the condition lacks a formal, consensus-based definition. The diagnosis of hydrocephalus depends on symptom profile, presence of neuroimaging features, and the outcome of diagnostic tests. Although numerous techniques are used to identify MPS patients who are most likely to have hydrocephalus and respond to treatment, no definitive method exists to prove diagnosis.

Purpose

The authors propose an algorithm to aid in the diagnosis and management of hydrocephalus in MPS patients.

Conclusions

The theory of venous hypertension associated with the morphological changes in the skull base and craniocervical junction indicate the need for future neuroimaging studies including cerebrospinal fluid (CSF) and venous flow measurements to monitor hydrocephalus progression and select therapeutic interventions in MPS patients. Preoperative planning should also be based on the increased risk of intraoperative and postoperative hemorrhagic complications.

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Abbreviations

MPS:

Mucopolysaccharidoses

CSF:

Cerebrospinal fluid

GAGs:

Glycosaminoglycans

MRI:

Magnetic resonance imaging

VPS:

Ventriculoperitoneal shunting

ICP:

Intracranial pressure

INPH:

Idiopathic normal pressure hydrocephalus

ETV:

Endoscopic third ventriculostomy

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Authors and Affiliations

  1. Post-Graduate Course in Medical Sciences, UFRGS, Porto Alegre, RS, 90035-003, Brazil

    Amauri Dalla Corte & Roberto Giugliani

  2. Medical Genetics Service, HCPA, Porto Alegre, RS, 90035-903, Brazil

    Carolina F. M. de Souza & Roberto Giugliani

  3. Medical Physics and Radioprotection Service, HCPA, Porto Alegre, RS, 90035-903, Brazil

    Maurício Anés

Authors
  1. Amauri Dalla Corte
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  2. Carolina F. M. de Souza
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  3. Maurício Anés
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  4. Roberto Giugliani
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Correspondence to Amauri Dalla Corte.

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Dalla Corte, A., de Souza, C.F.M., Anés, M. et al. Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?. Childs Nerv Syst 33, 1073–1080 (2017). https://doi.org/10.1007/s00381-017-3476-0

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  • DOI: https://doi.org/10.1007/s00381-017-3476-0

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