British Journal of Radiology 74 (2001),469-470 © 2001 The British Institute of Radiology
Spastic quadriparesis in a dwarf
D Kehagias, MD and
L Vlahos, MD, FRCR
Department of Radiology, Areteion Hospital, 76 Vas. Sofias Ave., 115 28 Athens, Greece
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Introduction
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A 30-year-old woman with short trunk and thoracic kyphosis presented with spastic quadriparesis. There was a history of reduced exercise tolerance over the previous 2 years. Neurological examination showed hypereflexia, spasticity, clonus and extensor planar responses. What abnormalities are demonstrated on radiography (Figures 1 and 2
) and MRI (Figure 3) of the spine?
The pelvis radiograph showed dysplastic acetabulae, flared ilia, absent femoral heads, short and wide femoral necks, degenerative changes of the hips, an elongated pelvis and a wide symphysis pubis (Figure 1
). Radiography of the forearms and hands demonstrated widening of the humerus, radius and ulna in the elbow region with osteoarthitic changes, disproportionally short ulna resulting in ulnar deviation of the hands, bowing of ulna and radius, decreased number of carpal bones and short fourth metacarpals (Figure 2). All of these features are found in Morquio's disease [1]. MRI of the spine (T2 weighted turbo spin echo image, TR/TE/TSE 2704/120/14) showed platyspondyly and anterior displacement of T10 vertebra on the wedge shaped T11 vertebra. The odontoid process was absent and replaced by a soft tissue mass (Figure 3). Indentation by this mass and the posterior arch of the atlas resulted in cervical myelopathy.
Morquio's disease (mucopolysaccharidosis, MPS type IV) is a storage disorder caused by deficiency of the two lysosomal hydrolases N-acetyl-galactosamine-6-sulphatase (MPS IV A) and B-galactosidase (MPS IV B). Accumulation of keratan sulphate in the urine is a characteristic feature. Short trunk and thoracic kyphosis are the clinical manifestations that lead to the diagnosis, usually in the second year of life.
Platyspondyly with central vertebral beaking is the diagnostic hallmark of Morquio's disease. Neurological disability is a major cause of morbidity and mortality. This is due to spinal cord compression in the thoracic region or at the craniovertebral junction.
Dysplasia of the odontoid process, ligamentous laxity and invagination of the posterior arch of atlas lead to atlantoaxial subluxation, which is the main cause of compromise of the spinal cord [2]. Abnormal ossification of the dens is associated with a soft tissue mass, which may be a combination of unossified fibrocartilage and reactive change [2]. This mass is demonstrated on MRI, with intermediate and low signal intensity on T1 and T2 weighted images, respectively [3]. There is not always cord compression from the mass, but indentation by the posterior arch of the atlas may produce cervical myelopathy. Spastic quadriparesis, and posterior column and spinothalamic signs are the most frequent manifestations.
The signs and symptoms are not always compatible with the degree of cord compression and are usually less severe than that suggested on MRI [3]. The treatment of choice is occipitocervical fusion [2]. Some authors proposed operation when measurable diameters of the spinal cord reduce by 50% regardless of the clinical status [2]. Others believe that surgery must be performed before neurological deficits become irreversible, independent of cord compression shown on MRI [3]. However, if an anterior soft tissue mass results in severe cord compression, posterior fusion must be accompanied by transoral anterior decompression [3]. Follow-up MRI examinations are necessary for monitoring the progress of the disease and treatment before significant neurological disorders occur.
Received for publication July 13, 2000.
Revision received September 7, 2000.
Accepted for publication September 25, 2000.
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References
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Langer LO, Carey LS. The roentgenographic features of KS mucopolysaccharidosis of Morquio (Morquio–Brailsford's disease). AJR 1966;97:1–19.[Abstract/Free Full Text]
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Stevens JM, Kendall BE, Crockard H, Ransford A. The odontoid process in Morquio–Brailsford disease: the effects of occipitocervial fusion. J Bone Joint Surg Br 1991;73:851–5.
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Hughes DG, Chadderten RD, Cowie RA, Wraith JE, Jenkins JPR. MRI of the brain and craniocervical junction in Morquio's disease. Neuroradiology 1997;39:381–5.[Medline]
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