Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses

doi:10.1016/0730-725X(87)90120-2

Magnetic Resonance Imaging

Volume 5, Issue 5, 1987, Pages 317-323

https://doi.org/10.1016/0730-725X(87)90120-2 Get rights and content

Abstract

Sixteen magnetic resonance (MR) studies were performed in eight patients with mucopolysaccharidosis (MPS). In patients with Hunter, Hurler, and Scheie syndromes, multiple areas of increased signal intensity were noted in the periventricular white matter. Computerized tomography (CT) frequently failed to demonstrate these white matter lesions. Other findings included spinal cord compression, hydrocephalus and airway obstruction due to soft tissue thickening around pharynx. In patients with Morquio syndrome, cervical spine dislocation, spinal cord compression and hydrocephalus were diagnosed by MR. MR was superior compared to CT, plain films and plain tomography, as the narrowing caused by bone and soft tissue changes were better seen with MR. Our experience suggests that MR should be the primary imaging modality for the detection of cranial abnormalities in patients with MPS. High resolution surface coil imaging may be preferable to invasive procedures such as myelography and CT with intrathecal contrast agents for the evaluation of cervical spine disease.

References (18)

A.V. Savage et al.
Diagnosis of Mucopolysaccharidosis using 1 H-n.m.r. spectroscopy of glycosaminoglycans
Carbohydrate Research
(1986)
W.G. Bradley et al.
Comparison of CT and MR in 400 patients with suspected disease of the brain and cervical spinal cord
Radiology
(1984)
A.S. Dekaban et al.
Mucopolysaccharidosis types I, II, IIIA and V pathological and biochemical abnormalities in the neural and mesenchymal elements of the brain
Acta Neuropath (Berl.)
(1977)
A.S. Debakan et al.
Mucopolysaccharidosis type V (Scheie syndrome)
Arch. Path. Lab. Med.
(1976)
M.K. Edwards et al.
CT metrizamide myelography of the cervical spine in Morquio syndrome
AJNR
(1982)
M.S. Huckman et al.
Magnetic resonance imaging compared with computed tomography in adrenoleuckodystrophy
AJDC
(1986)
M.A. Johnson et al.
Magnetic resonance imaging of the brain in Hurler syndrome
AJNR
(1984)
B.C.P. Lee et al.
Mr imaging of the craniovertebral junction
AJNR
(1985)
R.M. Levy et al.
Neuroradiologic findings in AIDS: A review of 200 cases
AJR
(1986)

There are more references available in the full text version of this article.

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All medical records of 52 patients with mucopolysaccharidosis (I, II, III, IV, and VI) diagnosed between 1992 and 2011 were identified and followed at a single spine center of a pediatric hospital. Demographic, clinical manifestations, spinal cord lesions, and surgical management were the focus of the descriptive report.
A total of 52 patients (32 males and 20 females), mean age at diagnosis of 8 ± 4 years (range 1–19), and with a mean follow-up of 11 ± 8 years were identified. Forty-three had cervical disease (the most frequent affection found was odontoid hypoplasia followed by atlantoaxial instability) and 14 patients had thoracolumbar kyphosis. Twenty-one patients presented neurologic compromise before surgery (quadriparesis as the most frequent manifestation), with the progression of neurologic impairment being the most common surgical indication. Surgery was performed in 38 patients (25 cervical and 13 thoracolumbar). Of the 21 patients with preoperative neurologic deficit, 6 patients showed neurologic improvement. The most common surgical complication found was proximal junctional kyphosis.
This is the largest series published of mucopolysaccharidosis pediatric patients with a surgically treated spinal condition. We recommend early spinal cord decompression in mucopolysaccharidosis spine pathology to prevent or potentially reverse neurologic impairment.
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Abnormalities of the craniovertebral junction in the paediatric population: a novel biomechanical approach
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Additional features in the cervical spine include platyspondyly and anterior vertebral beaking. Similar features are demonstrated in Hunter syndrome (MPS II),65,71–73 Hurler syndrome (MPS I),63,74–78 and Maroteaux–Lamy syndrome (MPS VI).79,80 Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder caused by heterozygous mutations in COL2A1 genes encoding type 2 collagen.
The craniovertebral junction (CVJ) is the bony transition between the cranium and cervical spine. It is a biomechanically complex articulation comprising the occipital condyles (Oc) the atlas (C1) and axis (C2). Pathologies affecting the CVJ in children are myriad with clinical features resulting from biomechanical instability, deformity, or neuraxial compression. Establishing the natural history and clinical burden of a condition is challenging in infants and young children, often complicated by co-existing neuromuscular and cognitive impairment. This makes investigation and treatment planning difficult. Each disease entity has a predilection for a particular biomechanical abnormality. Investigation using dynamic imaging is most appropriate in instability, computed tomography examination in abnormalities of deformity and magnetic resonance imaging examination in neuraxial compression. Treatment comprises reduction and immobilisation of instability, re-alignment of deformity, or decompression of the neuraxis. We present a review of disease entities affecting the CVJ in children categorised according to a simple mechanistic approach to aid investigation and treatment planning.
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2017, Molecular Genetics and Metabolism
The mucopolysaccharidosis (MPS) disorders are rare lysosomal storage disorders caused by mutations in lysosomal enzymes involved in glycosaminoglycan (GAG) degradation. The resulting intracellular accumulation of GAGs leads to widespread tissue and organ dysfunction. In addition to somatic signs and symptoms, patients with MPS can present with neurological manifestations such as cognitive decline, behavioral problems (e.g. hyperactivity and aggressiveness), sleep disturbances, and/or epilepsy. These are associated with significant abnormalities of the central nervous system (CNS), including white and gray matter lesions, brain atrophy, ventriculomegaly, and spinal cord compression. In order to effectively manage and develop therapies for MPS that target neurological disease, it is important to visualize and quantify these CNS abnormalities. This review describes optimal approaches for conducting magnetic resonance imaging assessments in multi-center clinical studies, and summarizes current knowledge from neuroimaging studies in MPS disorders. The content of the review is based on presentations and discussions on these topics that were held during a meeting of an international group of experts.

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Original contributionMagnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses

Abstract

Carbohydrate Research

Comparison of CT and MR in 400 patients with suspected disease of the brain and cervical spinal cord

Radiology

Mucopolysaccharidosis types I, II, IIIA and V pathological and biochemical abnormalities in the neural and mesenchymal elements of the brain

Acta Neuropath (Berl.)

Mucopolysaccharidosis type V (Scheie syndrome)

Arch. Path. Lab. Med.

CT metrizamide myelography of the cervical spine in Morquio syndrome

AJNR

Magnetic resonance imaging compared with computed tomography in adrenoleuckodystrophy

AJDC

Magnetic resonance imaging of the brain in Hurler syndrome

AJNR

Mr imaging of the craniovertebral junction

AJNR

Neuroradiologic findings in AIDS: A review of 200 cases

AJR

Original contribution
Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses