11/50. Transverse myelitis in a patient with long-standing ankylosing spondylitis. Ankylosing spondylitis is reported to involve not only the joints but other organs as well. Among these extra-articular involvements, uncommon complications associated with nervous system such as single root lesions, compression of the myelum and cauda equina syndrome have also been documented. Here we present a patient with long-standing ankylosing spondylitis who developed spastic paraparesis. Extensive study to find the cause of a spastic paraparesis failed and therefore led to the conclusion that this patient was suffering from transverse myelitis. Similar reports in the past have been attributed to an association with multiple sclerosis; however, we suggest that the findings support the diagnosis of a rare complication of ankylosing spondylitis with an unknown etiology. ( info) |
12/50. Portal-systemic myelopathy after transjugular intrahepatic portosystemic shunt creation: report of four cases. The authors attempted to describe the clinical manifestations of portal-systemic myelopathy (PSM) after transjugular intrahepatic portosystemic shunt (TIPS) creation. PSM was developed in four of 212 (1.89%) patients who underwent TIPS procedures in our hospital. Three men and one woman, ranging in age from 41 to 56 years, with a history of posthepatitis cirrhosis and recurrent bleeding from gastroesophageal varices had intrahepatic shunts created with 10-mm-diameter Wallstents. Shunt patency was confirmed by color Doppler ultrasonography (US) in each patient after TIPS creation. Progressive spastic paraparesis involving the lower extremities occurred between 5 weeks and 5 months after TIPS creation in the four patients. neurologic examination showed evidence of spasticity in all cases, with ankle clonus, extensor plantar responses, and lower extremity hyperreflexia. All sensory modalities remained intact. Cytologic examination of cerebrospinal fluid from each patient was normal. There was no evidence of spinal cord compression on the imaging studies. PSM is a rare syndrome that includes spastic paraparesis with intact sensation. Initially noted in patients who have undergone surgical placement of a portacaval shunt, it also may occur after TIPS creation. ( info) |
13/50. Idiopathic spinal cord herniation: case report and literature review. We report one case of spontaneous thoracic spinal cord herniation presenting with a progressive spastic paraparesis for 4 years in a 55 years old man. From preoperative MRI, showing a ventrally displaced atrophic spinal cord at T2-T3 level, a dorsal intradural arachnoid cyst was suspected. At operation, after a 3 level laminectomy, no arachnoid cyst was found and spinal cord herniation into a meningeal diverticulum was confirmed. The herniated myelon was replaced intradurally and the lumen of the diverticulum was filled with Teflon settled with fibrin glue to prevent recurrence. Postoperatively some neurological recovery was achieved. The literature was reviewed, regarding clinical and epidemiological features, proposed pathophysiological mechanisms, treatment options and outcome. Only 32 surgically proved cases of thoracic spinal cord herniation with no past history of spine trauma, injury or surgery were found. ( info) |
14/50. Hepatic myelopathy after splenorenal shunting: report of one case and review of the literature. Hepatic myelopathy is a rare complication of cirrhosis, usually associated with surgical or spontaneous porto-systemic shunts. Its pathophysiology is unknown. It is characterized by a motor involvement of the lower limbs without clinical sensory abnormality, leading to spastic paraparesis. These neurological features are related to a symmetric loss of myelin in the lateral corticospinal tracts. Usefulness of liver transplantation in this setting is not yet determined. We describe here the case of a 29-year-old male who presented with progressive spastic paraparesis of the lower limbs 3 years after a spleno-renal shunt. ( info) |
15/50. Neurosurgical interventions in children with Maroteaux-Lamy syndrome. Case report and review of the literature. This paper reports the case of a 14-year-old child with Maroteaux-Lamy syndrome (mucopolysaccharidosis type 6) who was treated consecutively for compressive damage of the optic nerves, hydrocephalus communicans and progressive spastic tetraparesis within 2 years. The clinical course of the patient is presented and the pathophysiologic mechanisms of disease progression in patients with Maroteaux-Lamy syndrome are discussed and reviewed. ( info) |
16/50. Intramedullary enterogenous cyst presenting with spastic paraparesis during two consecutive pregnancies: a case report. A 35 year old woman presented with two episodes of spastic paraparesis, occurring in the third trimester of two consecutive pregnancies. The neurological symptoms seemed to be caused by an intramedullary cyst in the thoracic spinal cord. The cyst was subtotally removed and histopathologically diagnosed as enterogenous cyst. Other congenital abnormalities were absent. The peculiar timing of the clinical manifestation of an intramedullary cyst has not been described before. An unequivocal explanation for this phenomenon is missing, but several factors related to pregnancy that may play a part are discussed. ( info) |
17/50. A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members. Hereditary spastic paraparesis (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder characterised by progressive lower limb spasticity and weakness. Some forms have been associated with white matter lesions and complex phenotypes. This study was prompted by the diagnosis of multiple sclerosis (MS) in two sisters from a large pedigree with hereditary spastic paraparesis. Twelve affected members of the extended family were examined (MRI and EEG were carried out and evoked potentials measured in five), and historical information was obtained from six affected deceased persons. The inherited disease phenotype was confirmed as autosomal dominant hereditary spastic paraparesis associated with epilepsy in four affected persons. None of the extended family had evidence of MS. Genetic analysis of the family has shown linkage to chromosome 2p and sequencing of the spastin gene has identified a 1406delT frameshift mutation in exon 10. This kindred demonstrates the clinical heterogeneity of HSP associated with spastin mutations. The possible relevance of the concurrence of HSP and MS in the sib pair is discussed. ( info) |
18/50. Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia. A 57 year old woman living independently in the community presented with four years of progressive spastic paraparesis and dementia. An extensive evaluation for the usual causes of these difficulties was unrevealing, but her serum phenylalanine concentration was markedly elevated and genetic analysis demonstrated mutations in the phenylalanine hydroxylase gene consistent with classic phenylketonuria. A protein restricted diet was associated with improvement in her condition. Although untreated phenylketonuria is typically associated with severe neurological dysfunction beginning in early childhood, this case shows that disability may be delayed until adulthood. ( info) |
19/50. Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. The protean manifestations of a novel maternally inherited point mutation of the mitochondrial genome are reported. The proband showed isolated, spastic paraparesis. A brother, who had suffered from a multisystem progressive disorder, ultimately died of cardiomyopathy. Another brother is healthy. The proband's mother showed truncal ataxia, dysarthria, severe hearing loss, mental regression, ptosis, ophthalmoparesis, distal cyclones, and diabetes mellitus. A muscle biopsy performed in the proband failed to show the morphological abnormalities typical of mitochondrial disorders; the activities of respiratory chain complexes were normal. However, complex I and IV activities were low in the muscle homogenate of the affected mother and brother. sequence analysis of mtDNA showed a heteroplasmic mutation of the tRNA(Ile) gene (G4284A). The mutation load was approximately 55%, 80%, and 90% in the muscle mtDNA of the proband, his mother, and his affected brother, respectively. Mutation was undetected in the healthy brother, as well as in 100 control samples. Several cybrid clones containing homoplasmic mutant mtDNA from the proband showed significant reductions of complex IV activity and maximum oxygen consumption rate, compared with homoplasmic wild-type clones derived from the same subject. ( info) |
20/50. Myelopathy and amnesia following accidental electrical injury. OBJECTIVE: documentation of MRI and neurophysiological changes following accidental electrical injury. SETTING: Tertiary care referral teaching hospital at Lucknow, india. RESULTS: A 30-year-old lady developed amnesia and spastic paraparesis with loss of pin prick sensation below the second thoracic spinal segment following electrocution. Her spinal MRI was normal and cranial MRI revealed T2 hyperintensity in the right putamen. Peroneal, sural and electromyography were normal. Tibial central sensory conduction time was normal but central motor conduction time to lower limbs and right upper limb was prolonged. CONCLUSION: Neurophysiological study and MRI may help in understanding the pathophysiological basis of neurological sequelae following electrical injury. ( info) |