Amauri Dalla Corte1, Carolina F M de Souza2, Maurício Anés3, Roberto Giugliani4,2. 1. Post-Graduate Course in Medical Sciences, UFRGS, Porto Alegre, RS, 90035-003, Brazil. dalacorte@gmail.com. 2. Medical Genetics Service, HCPA, Porto Alegre, RS, 90035-903, Brazil. 3. Medical Physics and Radioprotection Service, HCPA, Porto Alegre, RS, 90035-903, Brazil. 4. Post-Graduate Course in Medical Sciences, UFRGS, Porto Alegre, RS, 90035-003, Brazil.
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.
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 MPSpatients 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 MPSpatients. 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 MPSpatients. Preoperative planning should also be based on the increased risk of intraoperative and postoperative hemorrhagic complications.
Authors: D I Zafeiriou; P A Savvopoulou-Augoustidou; A Sewell; F Papadopoulou; M Badouraki; E Vargiami; N P Gombakis; G S Katzos Journal: Brain Dev Date: 2001-10 Impact factor: 1.961
Authors: Joseph Muenzer; M Beck; C M Eng; M L Escolar; R Giugliani; N H Guffon; P Harmatz; W Kamin; C Kampmann; S T Koseoglu; B Link; R A Martin; D W Molter; M V Muñoz Rojas; J W Ogilvie; R Parini; U Ramaswami; M Scarpa; I V Schwartz; R E Wood; E Wraith Journal: Pediatrics Date: 2009-11-09 Impact factor: 7.124
Authors: J Edmond Wraith; Maurizio Scarpa; Michael Beck; Olaf A Bodamer; Linda De Meirleir; Nathalie Guffon; Allan Meldgaard Lund; Gunilla Malm; Ans T Van der Ploeg; Jiri Zeman Journal: Eur J Pediatr Date: 2007-11-23 Impact factor: 3.183
Authors: Amauri Dalla Corte; Carolina F M de Souza; Maurício Anés; Fabio K Maeda; Armelle Lokossou; Leonardo M Vedolin; Maria Gabriela Longo; Monica M Ferreira; Solanger G P Perrone; Olivier Balédent; Roberto Giugliani Journal: Fluids Barriers CNS Date: 2017-09-18
Authors: Esmee Oussoren; Irene M J Mathijssen; Margreet Wagenmakers; Rob M Verdijk; Hansje H Bredero-Boelhouwer; Marie-Lise C van Veelen-Vincent; Jan C van der Meijden; Johanna M P van den Hout; George J G Ruijter; Ans T van der Ploeg; Mirjam Langeveld Journal: J Inherit Metab Dis Date: 2018-08-06 Impact factor: 4.982
Authors: Nathan Grant; J Michael Taylor; Zach Plummer; Kasiani Myers; Thomas Burrow; Lori Luchtman-Jones; Anna Byars; Adrienne Hammill; Katie Wusick; Edward Smith; James Leach; Sudhakar Vadivelu Journal: Front Pediatr Date: 2021-06-10 Impact factor: 3.418