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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Syringomyelia associated with Hajdu-Cheney syndrome: case report.

OBJECTIVE AND IMPORTANCE: Hajdu-Cheney syndrome is a rare idiopathic bone disease based on a generalized bone dysplasia accompanied by acro-osteolysis. We describe a surgical case of this syndrome that was accompanied by neurological signs associated with cervical syringomyelia. CLINICAL PRESENTATION: A 41-year-old woman was referred to our hospital with mild quadriparesis and sensory disturbance resulting from a car accident. There was a neck injury. She showed almost all of the major characteristic clinical features and roentgenographic findings of Hajdu-Cheney syndrome with syringomyelia. INTERVENTION: Surgical treatment was indicated because of the progressive neurological deficits. Foramen magnum decompression and C1 laminectomy were performed, and the dura was exposed. The dura was opened at the area of the foramen magnum and C1. The occipitocervical posterior fusion was carried out with an iliac bone graft and titanium wires. CONCLUSION: Postoperatively, quadriparesis and sensory disturbance improved and the patient showed improved ambulation. Magnetic resonance imaging disclosed the well-decompressed foramen magnum. The syringomyelia disappeared in the segmental area of C2 and was decreased in the segmental areas of C5-T6. The treatment of this syndrome is symptomatic. In this patient, magnetic resonance imaging disclosed compression of the brain stem by basilar invagination and platybasia, disturbance of cerebrospinal fluid flow at the level of the foramen magnum, and syringomyelia. It was suspected that the obstruction of cerebrospinal fluid flow at the level of foramen magnum caused the cervical syringomyelia. However, the long-term prognosis remains uncertain. Follow-up is necessary to assess the final result of the treatment.[1]


  1. Syringomyelia associated with Hajdu-Cheney syndrome: case report. Tanimoto, A., Tamaki, N., Nagashima, T., Nakamura, M. Neurosurgery (1996) [Pubmed]
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