Hydrocephalus in mucopolysaccharidosis Type VI successfully treated with endoscopic third ventriculostomy

Neto, Ângelo Raimundo da Silva; Holanda, Gervina Brady Moreira; Farias, Maria Cláudia Saldanha; Costa, Gladstone Santos da; Pereira, Hougelle Simplício Gomes

doi:10.3171/2012.11.peds11419

Cited by 8 publications

(2 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Creation of a ventriculoperitoneal shunt is the standard procedure and is a common imaging finding in patients with MPS (Fig 6), as are its complications (Fig 7) (38,39). Because of the risk with this procedure of infection and mechanical complications (such as obstruction and tube migration), third ventriculostomy has been described as an alternative treatment (40).…”

Section: Hydrocephalusmentioning

confidence: 99%

Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know

Reichert¹,

Campos²,

Vairo³

et al. 2016

RadioGraphics

View full text Add to dashboard Cite

Mucopolysaccharidosis (MPS) is an inherited metabolic disease and a member of the group of lysosomal storage disorders. Its hallmark is a deficiency of lysosomal enzymes involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). The products of GAG degradation accumulate within lysosomes and in the extracellular space, thereby interfering with the degradation of other macromolecules. This process leads to chronic degeneration of cells, which in turn affects multiple organs and systems. There are seven distinct types of MPS (I, II, III, IV, VI, VII, and IX), which are divided into subtypes according to the deficient enzyme and the severity of the clinical picture. Although clinical manifestations vary considerably among the different types of MPS, the central nervous system (CNS) is characteristically affected, and magnetic resonance (MR) imaging is the method of choice to evaluate brain and spinal cord abnormalities. Enlarged perivascular spaces, white matter lesions, hydrocephalus, brain atrophy, cervical spinal canal stenosis with or without spinal cord compression and myelopathy, and bone abnormalities in the skull and spine (dysostosis multiplex) are typical imaging findings described in the literature and reviewed in this article. The differential diagnosis of MPS is limited because the constellation of imaging findings is highly suggestive. Thus, radiologists should be aware of its typical neuroimaging findings so they can recognize cases not yet diagnosed, exclude other metabolic diseases, monitor CNS findings over time, and assess treatment response. (©)RSNA, 2016.

show abstract

Section: Hydrocephalusmentioning

confidence: 99%

Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know

Reichert¹,

Campos²,

Vairo³

et al. 2016

RadioGraphics

View full text Add to dashboard Cite

show abstract

“…This technique has been primarily advocated for patients with obstructive hydrocephalus, especially due to aqueductal stenosis. There is also growing interest for ETV in MPS patients, as in the case described by Da Silva Neto et al with clinical and radiological improvement [ 25 ]. Technically, the procedure is demanding because of the anatomical peculiarities of the ventricular system, with the major prominence of thalami and the thickness of third ventricle floor infiltrated by undegraded GAG.…”

Section: How To Treat Hydrocephalus In Mps Patients?mentioning

confidence: 99%

Cerebral and occipito-atlanto-axial involvement in mucopolysaccharidosis patients: clinical, radiological, and neurosurgical features

et al. 2018

View full text Add to dashboard Cite

BackgroundNeurosurgical features of mucopolysaccharidosis (MPS) patients mainly involve the presence of cranio-vertebral junction (CVJ) abnormalities and the development of communicating hydrocephalus. CVJ pathology is a critical aspect that severely influences the morbidity and mortality of MPS patients. Hydrocephalus is slowly progressing; it must be differentiated from cerebral atrophy, and rarely requires treatment. The aim of this paper was to review the literature concerning these conditions, highlighting their clinical, radiological, and surgical aspects to provide a practical point of view for clinicians.ResultsCVJ involvement may present with cervical pain, unsteady gait, frequent falls, and progressive impairment of autonomous ambulation, an acute tetraplegia even after minor trauma. Magnetic resonance imaging (MRI) of the cervical spine, including active dynamic flexion and extension scans, is the most powerful imaging technique for detecting spinal cord compression at the CVJ in MPS patients. The main radiological features include atlanto-axial subluxation, odontoid hypoplasia, periodontoid soft tissue masses, spinal canal narrowing, and spinal cord compression. Together with MRI, fine-cut computed tomography (CT) scans with coronal and sagittal three-dimensional reconstructions are important diagnostic tools in the preoperative workup thanks to the information gleaned about bone structure conformation and angles. Finally, angio-CT slices are equally useful in preoperative planning, defining vertebral artery position in relation to bony structures. Surgery of the CVJ is proposed both to treat cord compression with MRI signs of myelopathy or as a preventive treatment in patients at high risk of cord damage. Among different surgical options, we always suggest performing decompression and instrumented stabilization.Hydrocephalus may occasionally present clinically with intracranial hypertension symptoms such as headache, vomiting, and high sight impairment. Neurocognitive symptoms may be hidden by the constitutive cognitive impairment. MRI with a study of dynamic cerebrospinal fluid (CSF) flow is helpful to differentiate from ventriculomegaly, which does not require treatment. Ventriculo-peritoneal shunt placement is the gold standard to treat hydrocephalus, although endoscopic third ventriculostomy has recently shown good results in some patients.ConclusionEarly recognition of CVJ pathology and hydrocephalus is critical to avoid the development of severe complications. A multidisciplinary approach involving physicians, neuroradiologists, and neurosurgeons is needed to detect such conditions and to select patients eligible for surgery.

show abstract

Mucopolysaccharidoses: overview of neuroimaging manifestations

Nicolas‐Jilwan

AlSayed

2018

Pediatr Radiol

View full text Add to dashboard Cite

The mucopolysaccharidoses are a heterogeneous group of inherited lysosomal storage disorders, characterized by the accumulation of undegraded glycosaminoglycans in various organs, leading to tissue damage. Mucopolysaccharidoses include eight individual disorders (IS [Scheie syndrome], IH [Hurler syndrome], II, III, IV, VI, VII and IX). They have autosomal-recessive transmission with the exception of mucopolysaccharidosis II, which is X-linked. Each individual disorder has a wide spectrum of phenotypic variation, depending on the specific mutation, from very mild to very severe. The skeletal and central nervous systems are particularly affected. The typical clinical presentation includes organomegaly, dysostosis multiplex with short trunk dwarfism, mental retardation and developmental delay. In this article, we review the neuroimaging manifestations of the different types of mucopolysaccharidoses including the dysostosis multiplex of the skull and spine as well as the various central nervous system complications. These include white matter injury, enlargement of the perivascular spaces, hydrocephalus, brain atrophy, characteristic enlargement of the subarachnoid spaces as well as compressive myelopathy. The correlation between several of the neuroimaging features and disease severity remains controversial, without well-established imaging biomarkers at this time. Imaging has, however, a crucial role in monitoring disease progression, in particular craniocervical junction stenosis, cord compression and hydrocephalus, because this allows for timely intervention before permanent damage occurs.

show abstract

Hydrocephalus in mucopolysaccharidosis Type VI successfully treated with endoscopic third ventriculostomy

Cited by 8 publications

References 14 publications

Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know

Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know

Cerebral and occipito-atlanto-axial involvement in mucopolysaccharidosis patients: clinical, radiological, and neurosurgical features

Mucopolysaccharidoses: overview of neuroimaging manifestations

Contact Info

Product

Resources

About