1/50. Extended extradural spinal arachnoid cyst: an unusual cause of progressive spastic paraparesis. A 15-year old girl presented with a slowly progressive spastic paraparesis since the age of 12. creatine kinase was slightly increased. Muscle biopsy carried out during tendon surgery for severe toe-walking showed 'myopathic' changes. Subsequent neurological evaluation and radiological studies revealed a large extradural arachnoid cyst extending from the 11th thoracic vertebra to the first lumbar vertebra. Her condition improved after operation. The 'myopathic' features turned out to be the result of chronic spinal compression. MRI is the method of choice to examine patients with non-hereditary progressive spastic paraparesis. Muscle biopsy and tendon surgery should not be performed, without careful neurological examination. ( info) |
2/50. Effect of intrathecal baclofen on gait control in human hereditary spastic paraparesis. The covariation between thigh, shank and foot elevation angles during locomotion was analysed by means of orthogonal planar regression in a patient with pure hereditary spastic paraparesis before and after an intrathecal bolus of baclofen and in seven healthy subjects. The size, shape and spatial orientation of the loop defining patient's planar covariation (thigh angle vs. shank angle vs. foot angle) significantly differed from the controls' before baclofen, whereas these features resumed normal characteristics after baclofen injection. This shows that alteration of the control of phase coupling for the co-ordination of lower limb segments in human gait by increased spinal reflexes can be reversed by intrathecal baclofen injection. ( info) |
3/50. Friedreich's ataxia presenting as adult-onset spastic paraparesis. We have studied a man with an atypical form of Friedreich's ataxia (FRDA), who presented at age 26 years with a 2-year history of unsteadiness and clumsiness. The predominant feature of his initial neurological examination was a spastic paraparesis, along with a mild distal weakness and hyperreflexia of the upper limbs. He also displayed limb ataxia. Frataxin GAA repeat sizes were 1,040/690. This unusual FRDA presentation is not dissimilar to that of Acadian spastic ataxia. ( info) |
4/50. OXPHOS and mtDNA alterations in a family with spastic paraparesis. OBJECTIVE: To study muscle biopsies in hereditary spastic paraparesis (HSP). methods: We analyzed oxidative phosphorylation activities and mtDNA in 3 individuals from an HSP family. RESULTS: We found histochemical evidence for mitochondrial proliferation and cytochrome c oxidase negative fibers. Biochemically, there was an important reduction of the activities of complexes I and IV in 3 patients. In addition, multiple mtDNA deletions (ranging 4.0-7.0 kb) were found in 2 cases by PCR but not by Southern blot. CONCLUSION: We suggest the use of a muscle biopsy when examining HSP patients. HSP can represent a disorder of nuclear-mitochondrial intercommunication. ( info) |
5/50. Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus. corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus (CRASH syndrome) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene. L1 plays a key role in axon outgrowth and pathfinding during the development of the nervous system. We describe the case of a boy from the united arab emirates who presented with CRASH syndrome. Scanning the L1 gene of the patient resulted in the discovery of a novel missense mutation: transition of a G (guanine) to T (thymine) at position 604 (G604-->T), which results in conversion of aspartic acid to tyrosine at position 202 (D202Y) of the L1 protein. It is very likely that the cerebral dysgenesis is due to the abnormal structure and function of L1. ( info) |
6/50. Giant intraspinal pseudomeningoceles cause delayed neurological dysfunction after brachial plexus injury: report of three cases. OBJECTIVE AND IMPORTANCE: Delayed neurological dysfunction after a brachial plexus injury is uncommon. We present the cases of three patients with a history of significant brachial plexus trauma and late neurological deterioration secondary to giant intraspinal extradural pseudomeningoceles. CLINICAL PRESENTATION: Three patients, each with a remote history of brachial plexus trauma, presented with slowly progressive upper-limb weakness. An examination revealed bilateral lower motor neuron weakness in the upper extremities in all patients and evidence of spastic paraparesis in one. magnetic resonance imaging and postmyelogram computed tomographic scans demonstrated large anterior extradural cerebrospinal fluid collections extending from the upper cervical to lower thoracic and lumbar levels in each patient. Myelograms demonstrated a connection with the subarachnoid space in two patients. INTERVENTION: Direct obliteration of the connection between the cyst and the subarachnoid space was completed in two patients, and a cystoperitoneal shunt was placed in the third. Postoperative imaging demonstrated complete resolution of the extradural collections. Arrest of progression of upper-limb deterioration was observed in all patients, and dramatic improvement of long tract symptoms occurred in one. CONCLUSION: Giant intraspinal pseudomeningoceles are a rare complication of brachial plexus root injuries or avulsion, capable of causing significant morbidity. Early intervention can improve symptoms related to long tract involvement and prevent further deterioration of lower motor neuron disease. The pathophysiology of neurological dysfunction caused by these giant collections is unclear; however, vascular and mechanical factors thought to be important in the pathogenesis of cervical myelopathy also may have a role. ( info) |
7/50. paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis. Progressive myelopathy is a rare complication of chronic hepatic disease which has never been reported in the paediatric age group. We describe the 11 year course of an adolescent male with hepatic myelopathy caused by cryptogenic micronodular cirrhosis. His condition has been associated with persistent polycythaemia and extraordinary increases of whole blood manganese, with magnetic resonance imaging evidence of manganese deposition within the basal ganglia and other regions of the brain. The patient has developed neither liver failure nor parkinsonism. The pathophysiological bases of this multiorgan system disorder are described. ( info) |
8/50. A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. We report on a novel frameshift mutation in the mtDNA gene encoding cytochrome c oxidase (COX) subunit III. The proband is an 11-year-old girl with a negative family history and an apparently healthy younger brother. Since 4 years of age, she has developed a progressive spastic paraparesis associated with ophthalmoparesis and moderate mental retardation. The presence of severe lactic acidosis and Leigh-like lesions of putamina prompted us to perform muscle and skin biopsies. In both, a profound, isolated defect of COX was found by histochemical and biochemical assays. sequence analysis of muscle mtDNA resulted in the identification of a virtually homoplasmic frameshift mutation in the COIII gene, due to the insertion of an extra C at nucleotide position 9537 of mtDNA. Although the 9537C(ins) does not impair transcription of COIII, no full-length COX III protein was detected in mtDNA translation assays in vivo. Western blot analysis of two-dimensional blue-native electrophoresis showed a reduction of specific crossreacting material and the accumulation of early-assembly intermediates of COX, whereas the fully assembled complex was absent. One of these intermediates had an electrophoretic mobility different from those seen in controls, suggesting the presence of a qualitative abnormality of COX assembly. Immunostaining with specific antibodies failed to detect the presence of several smaller subunits in the complex lacking COX III, in spite of the demonstration that these subunits were present in the crude mitochondrial fraction of patient's cultured fibroblasts. Taken together, the data indicate a role for COX III in the incorporation and maintenance of smaller COX subunits within the complex. ( info) |
9/50. syringomyelia--as a late complication of tuberculous meningitis. The aim of this paper is to demonstrate the unusual MR features of thoracic syringomyelia following TB meningitis and to discuss the neurosurgical aspect of the treatment of this rare entity. Four years after a TB meningitis episode, a 30 year-old female patient developed a progressive spastic paraparesis. MR studies revealed multiloculated syrinxes throughout the thoracic cord. She had a syringo-subarachnoid shunt with a silastic "T" tube inserted. On the first postoperative day, she showed a dramatic neurological improvement, but unfortunately her paraparesis progressed to the preoperative level within a month despite diminished size of the syrinxes on the control MRI examination. Two and a half years after the operation the patient complained of having a burning type of central pain, and further deterioration in neurological function. Thoracic spinal MRI examination demonstrated enlarged syringomyelic cavities. At the second operation syringo-peritoneal shunt insertion was performed via right T10-11 hemilaminectomy using a "T" tube. At present, 4 months after the second operation, the patient's neurological examination demonstrated decreased spasticity, and improved strength in the legs compared to the preoperative level. MRI is the first choice of investigation in detecting TB related myelopathy as it provides a greater detail of pathological changes within and around the spinal cord such as syrinx formation and arachnoiditis. The MR findings are also helpful in deciding the management and predicting the outcome. Presence of multifocal loculations and arachnoid adhesions is the likely cause of treatment failures and poor prognosis. ( info) |
| Three cases of dorsal intramedullary cysticercosis presenting as spastic paraparesis or paraplegia are reported. A definite preoperative diagnosis, using MRI, was made in two cases while in the third it was strongly suspected. One paraplegic patient regained full function whereas in the other two the deficit persisted even after successful cyst excision. The pathogenesis and recovery are discussed in the light of the MRI findings. ( info) |