Distinct features between longitudinally extensive transverse myelitis presenting with and without anti-aquaporin 4 antibodies.

OBJECTIVES: Longitudinally extensive transverse myelitis (LETM) with spinal cord lesions spanning three or more vertebral segments is a key feature of neuromyelitis optica (NMO). However, the role of anti-aquaporin 4 (anti-AQP4) antibody, a sensitive biomarker of NMO, in the conversion of LETM to NMO remains uncertain. METHODS: Thirty first-ever LETM patients were retrospectively analysed and divided into two groups according to the presence of anti-AQP4 antibodies. RESULTS: Eighteen (60%) patients presented with anti-AQP4 antibodies. Fifteen (83.33%) anti-AQP4 (+) LETM patients converted to NMO, while only three of 12 (25%, p = 0.002) anti-AQP4 (-) LETM patients progressed to NMO, over a mean follow-up period of 5.63 years. Seven (38.89%) anti-AQP4 (+) and one (8.33%) anti-AQP4 (-) LETM patients received interferon-ß1a treatment, respectively. Anti-AQP4 (+) LETM patients demonstrated a higher immunogamma globulin (IgG) index (0.68 ± 0.43 versus 0.47 ± 0.19, p = 0.018), annual relapse rate (0.72 ± 0.31 versus 0.42 ± 0.17, p = 0.01) and Kurtzke Expanded Disability Status Scale (4.28 ± 2.22 versus 2.67 ± 2.26, p = 0.031), than anti-AQP4 (-) LETM patients. In spinal magnetic resonance imaging (MRIs), more than half (58.33%) of the anti-AQP4 (+) LETM patients were observed to have central grey matter-predominant involvement in the axial view, while peripheral white matter-predominant involvement (51.85%) was the most common pattern observed in the anti-AQP4 (-) LETM patients. CONCLUSION: Anti-AQP4 (+) LETM demonstrated a high conversion rate to NMO (83.33%), suggesting that anti-AQP4 (+) LETM may represent an early, isolated syndrome of NMO spectrum disorder. The greater number of patients receiving interferon-ß treatment in anti-AQP4 (+) LETM may contribute to its high annual relapse rate.

Acute disseminated encephalomyelitis that meets modified McDonald criteria for dissemination in space is associated with a high probability of conversion to multiple sclerosis in Taiwanese patients.

BACKGROUND: Patients with acute disseminated encephalomyelitis (ADEM) may relapse and some may ultimately convert to multiple sclerosis (MS); however, no criteria that can predict MS conversion are available to date. Our aim was to describe the clinical and magnetic resonance imaging (MRI) features of patients with an initial ADEM attack and evaluate which MRI criteria can predict conversion to MS. METHODS: We retrospectively reviewed the records of 36 patients diagnosed with ADEM. We determined clinical signs/symptoms, examined the cerebrospinal fluid (CSF), and performed brain MRI scans and compared the findings between patients who did and did not convert to MS. RESULTS: Clinical signs/symptoms, and CSF analysis show no significant difference between the two groups. The rate of conversion to MS from ADEM in Taiwanese patients is low (11%) after a mean follow-up period of 28.36 months. Modified McDonald criteria were fulfilled in 19/36 patients: 21% (4/19) of those patients developed MS according to Poser criteria subsequently. Of the other patients (17/36) who did not fulfill these criteria, none converted to MS. (log rank test; P=0.027). CONCLUSIONS: It is difficult to predict from initial clinical presentations to address which patients with ADEM will convert to MS. Patients with ADEM whose brain MRI findings met the modified McDonald criteria may have clinically isolated syndrome because they have a significantly higher probability of conversion to MS. In contrast, patients whose brain MRI findings did not meeting these criteria may be considered as having classic ADEM because they have a lower probability of conversion to MS.

Temporal features of magnetic resonance imaging and spectroscopy in non-ketotic hyperglycemic chorea-ballism patients.

BACKGROUND: Non-ketotic hyperglycemic chorea-ballism (NKHCB) had special reversible hyperintense on T1-weighted imaging (T1WI) lesion in comparsion to gray matter. However, the mechanism accounts for these lesions is still unclear. METHODS: Patients diagnosed with NKHCB were recruited from 2002 to 2004. The demographic, clinical, magnetic resonance imaging (MRI), and spectroscopy (MRS) features were recorded at acute and remission phase. RESULTS: In 18 patients with NKHCB, the blood sugar level at onset was significantly higher than that after being free from chorea-ballism (419.50 +/- 257.33 vs. 198.22 +/- 53.97 mg/dl, P = 0.001). The serum osmolality dropped from 318.33 +/- 15.21 mOsm/kg at onset to 292.50 +/- 7.85 mOsm/kg after recovery (P < 0.001). All patients displayed T1 hyperintense lesions at contralateral basal ganglia at acute phase. Eight patients receiving follow-up MRI at remission phase, all T1 hyperintense lesions at the basal ganglia regressed. The ratios between choline-containing compounds and creatine at acute and remission phases were significant higher in lesion than in normal side, respectively (acute phase: 1.12 +/- 0.23 vs. 0.72 +/- 0.28, P = 0.038; remission phase: 1.23 +/- 0.47 vs. 0.68 +/- 0.15, P = 0.013). The lactate peaks present at 1.3 ppm on the lesion side either in acute or in remission phase of most case. CONCLUSIONS: The clinical, MRI, and MRS findings suggest that the mechanisms responsible for NKHCB may be a reversible ischaemia insult potentiated by hyperglycemia.

Hypokalemic thyrotoxic periodic paralysis: clinical characteristics and predictors of recurrent paralytic attacks.

BACKGROUND AND PURPOSE: To study the clinical characteristics of hypokalemic thyrotoxic periodic paralysis (hoTPP) and identify the predictors of recurrent paralytic attacks before achieving the euthyroid status. METHODS: We retrospectively analyzed 45 hoTPP patients who were admitted during the 7-year study period. RESULTS: A tendency towards male predominance was observed among the 45 patients (91.1%, 41/45). The mean onset age was 32.9 +/- 10.0 years (range: 16-54 years). No significant differences were observed in the onset age between male and female patients. Precipitating factors included rest/sleep at night, hot weather, upper respiratory tract infections (URIs), and excessive physical activities. Atypical weakness was observed in nine (20%, 9/45) patients. One patient initially diagnosed with sporadic periodic paralysis eventually developed hoTPP. DISCUSSION: In provocative tests, hypokalemia was not a consistent finding during paralytic attacks. Before achieving the euthyroid status, the rate of recurrent attacks was as high as 62.2%, and peaked in the first 3 months after hoTPP was diagnosed. Patients with URIs exhibited a higher incidence of recurrent paralytic attacks than those without (odds ratio = 13.00; 95% confidence interval = 1.08-156.08; P = 0.04).

Angiotensin-converting enzyme polymorphisms and risk of spontaneous deep intracranial hemorrhage in Taiwan.

BACKGROUND AND PURPOSE: This study examines whether angiotensin-converting enzyme (ACE) gene polymorphisms are associated with the risk of spontaneous deep intracerebral hemorrhage (SDICH) in Taiwan using a case-control study. METHODS: Totally, 217 SDICH patients and 283 controls were recruited. Associations of ACE A-240T and ACE I/D polymorphisms with SDICH were examined under the additive model and adjusted for gender, age, body mass index, total cholesterol level, smoking history, alcohol use, hypertension, and use of ACE inhibitors. RESULTS: Hypertension, diabetes mellitus, family history of spontaneous intracerebral hemorrhage (SICH), and low cholesterol level increase risk of female SDICH, whereas hypertension, alcohol use, smoking history, family history of SICH, and low cholesterol level are an important risk factor for male SDICH. After adjusting for covariates, only haplotype ACE T-D (OR = 2.7, 95% CI, 1.1-6.5, P = 0.02) was associated with female SDICH. CONCLUSIONS: This study demonstrates that environmental risk factors play a major role and ACE polymorphisms play a minor role in contributing risk of SDICH in Taiwan.

Contribution of clinical screening to carrier detection in a large Chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletion.

Diagnosis of heterozygous Fabry patients is difficult because of its variable clinical manifestations and overlapping serum alpha-galactosidase A (AGA) activity between carriers and non-carriers. We tried to facilitate diagnosis of heterozygous Fabry patients by detailed clinical examination. We analyzed clinical presentations, biochemical, electrophysiological and genetic characteristics of 16 patients with Fabry disease in a large Chinese family. Male patients demonstrated significantly higher pain scores, poorer renal function, and higher frequency of hypohidrosis and corpora angiokeratomas than female patients. Interestingly, all the males and females had corneal verticilata by slit lamp examination. However, there was no association of serum AGA activity with renal function or pain symptom scores. The results indicated that detailed ocular and neurological examination might provide an alternative way of detecting heterozygous patients. We also report a novel large deletion spanning across the joint of Alu repetitive elements in introns 1 and 2 with resultant exon 2 deletion in a Chinese family with Fabry disease.

Acute bacterial meningitis in adults: a hospital-based epidemiological study.

Bacterial meningitis, a world-wide disease, has to be reviewed periodically because the specific micro-organisms responsible for the infection vary with time, geography and patient age. To determine its incidence and clinical features in Taiwan, we reviewed the microbiological records for cerebrospinal fluid (CSF) and blood cultures, and the medical records of patients with bacterial meningitis admitted between 1981 and mid-1998. Bacterial micro-organisms were demonstrated in the CSF and/or blood in 395 patients with 418 episodes of bacterial meningitis. Streptococcus species were the most common causative micro-organism group, at 23. 21% of all episodes. Its prevalence rate significantly decreased from the first 7 years of study (41.9%) to the last 10.5 years (19. 2%). However, Klebsiella meningitis and Staphylococcal meningitis were more frequently noted after 1987. More than 70% of patients had at least one underlying disease or condition. Poor prognostic factors indicated by univariable analysis were: age >60 years; diabetes mellitus; severe neurological deficits on the first day of treatment; infection with Gram-negative bacilli; CSF WBC count >5000x10(6)/l; malignancy; seizure; and bacteraemia. The overall mortality rate was 29.4%, 29.7% in the first 7 years of study and 29. 4% in the last 10.5 years. The use of new antibiotics has not reduced the mortality rate in our patients with bacterial meningitis.

Thoracic disc herniation mimicking acute lumbar disc disease.

STUDY DESIGN: Case report of a 49-year-old woman with a lower thoracic disc herniation mimicking acute lumbosacral radiculopathy. OBJECTIVE: To describe an unusual case of thoracic disc herniation mimicking acute lumbar disc disease. SUMMARY OF BACKGROUND DATA: Symptomatic thoracic disc herniation is rare and its clinical manifestations differ widely from those of cervical and lumbar disc herniations. Midline back pain and signs of spinal cord compression progressing over months or years are the predominant clinical features. Acute and subacute thoracic disc herniation occurs in less than 10% of patients, and isolated root pain is unusual. METHODS: A 49-year-old woman had acute low back pain radiation into the left buttock and the lateral aspect of the left leg and left foot. Magnetic resonance imaging study showed a bulging disc and posterior osteophytes at T11-T12. RESULTS: Surgical removal of the herniated disc and osteophytes rapidly relieved her symptoms and neurologic deficits. A follow-up neurologic examination 3 years later showed normal motor and sensory functions, although low back soreness was noted occasionally. CONCLUSION: A case of thoracic disc herniation mimicking an acute lumbosacral radiculopathy is presented. Compression of the lumbosacral spinal nerve roots at the lower thoracic level after exit from the lumbar enlargement may be the mechanism for this unusual presentation.

Transient global amnesia and amaurosis fugax in a patient with common carotid artery occlusion--a case report.

The etiology of transient global amnesia (TGA) is debatable. The hypothesis of a thromboembolic cause of TGA has been questioned by recent case control studies. Occlusion of the common carotid artery (CCA) is rare. Although amaurosis fugax (AF) is a hallmark of ipsilateral internal carotid artery disease, its occurrence in CCA occlusion is less known. Association of these three conditions in a patient may imply pathophysiologic significance. Here, the authors report a 76-year-old man who suffered from a spell of TGA and then several attacks of AF of the right eye. Progressive occlusion of the right CCA was documented by repeat carotid duplex scans and was finally confirmed by cerebral angiography. In this patient, the occurrence of CCA occlusion and AF implicates a vascular etiology for the event of TGA. A noninvasive carotid ultrasonographic screen may, therefore, be worthwhile for patients with TGA.

Type C Niemann-Pick disease: report of a Chinese case.

We report on a 12-year-old Chinese child with type C Niemann-Pick disease, who presented primarily with neurologic symptoms. He started to develop ataxia and dysarthria at the age of six years. Dementia, dysphagia, dystonia and seizures, in that sequence, followed within a couple of years. He was anarthric and bedridden five years after onset. Supranuclear vertical gaze palsy was found at the beginning of the illness. However, no hepatosplenomegaly or other physical abnormality was noted. Bone marrow aspirates revealed foamy storage cells and sea-blue histiocytes. However, sphingomyelinase activity in the cultured skin fibroblast was normal. The characteristic clinical presentations and typical pathologic and histochemical findings meet the diagnostic criteria of type C Niemann-Pick disease. We report the first Chinese case of type C Niemann-Pick disease and review 73 cases reported previously.

Incidence of irritable electromyography in inflammatory myopathy.

Needle electromyography (EMG) findings in patients with myopathy can be classified as "irritable" or "non-irritable," depending on the presence or absence of "abnormal spontaneous activity" in the form of fibrillation potentials, positive sharp waves, or complex, repetitive discharges. An irritable myopathy suggests either an active necrotizing myopathic process and/or unstable muscle membrane potential. Although inflammatory myopathies are traditionally considered to show irritable myopathic changes on EMG, the precise incidence of these changes is not known. We retrospectively reviewed the EMG findings in 178 consecutive patients with biopsy-confirmed myopathy. Inflammatory myopathy was defined on the basis of biopsy findings combined with clinical features. Needle EMG showed "irritable" myopathic features in 66% of the patients in the inflammatory histology myopathic group and in 30% patients with non-inflammatory histology (p <0.00l). Overall, irritable EMG findings predicted an inflammatory histology in only 44% of patients. The degree and distribution of irritability on EMG did not improve the probability of finding inflammatory myopathy. By the same token, non-irritable EMG findings also did not exclude inflammatory histology. We conclude that irritable myopathy on EMG as defined above is not very sensitive and not very specific for predicting an inflammatory histology.

Clinical characteristics of multiple sclerosis in Taiwan: a cross-sectional study.

This study reviewed the clinical characteristics of multiple sclerosis (MS) in Taiwanese patients from 1993 to 2001. Of the 75 MS patients with a mean age of onset of 35.6 +/- 12.6 years, the female-to-male ratio was 4.4 (61/14). In 42 (56%) optico-spinal MS (OS-MS) patients, the age of onset (37.6 +/- 11.1 years) tended to be older than conventional MS (C-MS) patients (33.1 +/- 14.1 years, P = 0.08). In 60 cerebrospinal fluid (CSF) specimens, raised IgG index (>0.7) and oligoclonal bands were noted in 26 (43.3%) and two (3.3%) cases, respectively. The frequency of raised IgG index was lower in OS-MS (31.3%) than in C-MS (57.1%, P = 0.07). The CSF total protein concentrations were significantly higher in OS-MS (64.5 mg/dL) than in C-MS (46.6 mg/dL, P = 0.047). The mean annual relapse rate was 54.1%, and was significantly higher within the first year (59.7%, P < 0.001). The mean annual relapse rate in OS-MS (62.7%) was significantly higher than in C-MS (41.2%, P=0.01). The differences in the annual relapse rate and total protein concentration in CSF between OS-MS and C-MS suggest probably two distinct immunopathogenesis. The higher first year relapse rate of MS patients in Taiwan may address the importance of early intervention with immunomodulatory therapy.

Electrodiagnostic studies in myasthenia gravis.

Forty-three patients with myasthenia gravis (MG) were studied to compare the sensitivity of repetitive nerve stimulation (RNS) test with single fiber electromyography (SFEMG) in the diagnosis of MG. SFEMG was abnormal in 81% (35 of 43 cases), while RNS test was abnormal in 53% (23 of 43 cases). In ocular MG, SFEMG showed a much higher positive rate (70%, 16 of 23 cases) than RNS test (22%, 5 of 23 cases). Both studies had similar abnormal rates in the generalized group. In patients studied with SFEMG in the EDC muscle, the clinical severity was closely correlated with jitter abnormality. We conclude that SFEMG is more sensitive than RNS test in the diagnosis of MG, especially in the ocular group.

Quantitative cardiovascular autonomic function study in Fisher syndrome.

Quantitative cardiovascular autonomic function tests were performed longitudinally in nine patients with Fisher syndrome (FS). Parasympathetic autonomic function was evaluated by the Valsalva ratio and RR interval variation during rest and deep breathing. Sympathetic autonomic function was evaluate by blood pressure responses to sustained handgrip and to active standing. None of the patients with FS had clinical signs of autonomic dysfunction during the course of their illness. However, autonomic function abnormalities were seen in up to 83% of patients with FS. Thus, bedside clinical signs of autonomic dysfunctions are inadequate for the assessment of autonomic abnormality compared with quantitative autonomic function examination. Most autonomic function tests tended to improve after 4-12 weeks. Although parasympathetic and sympathetic functions were both involved at the height of FS, parasympathetic fibres were less vulnerable than the sympathetic fibres.

POEMS syndrome in Chinese.

POEMS (polyneuropathy, organomegaly, endocrine disturbance, M-protein and skin hyperpigmentation) syndrome occurring in Chinese has been inadequately described. Here we report our experience of 12 Chinese patients with the syndrome. This series is similar to those reported from Japan and from the Western world by the predominance of middle-aged males. Diabetic mellitus, a common feature in POEMS syndrome, was not present in our patients. M-protein of the lambda type was demonstrated in 7 patients by immunoelectrophoresis or by immunofixation electrophoresis. Osteosclerosis in Chinese patients is not as common as in patients reported from Japan or from the Western world; a common radiographic finding in our patients was a compression fracture of the thoraco-lumbar spine with or without sclerotic and lytic lesions. The condition has a grave prognosis; 9 patients die within 4 years after onset of the disease despite various kinds of treatment.

Acute transverse myelopathy and cutaneous vasculopathy in primary Sjögren's syndrome.

Neurologic complications of primary Sjögren's syndrome (SS) may be under-estimated. Here, we report a patient with primary SS, who developed acute transverse myelopathy (ATM) and skin purpuric lesions simultaneously. In the first episode of myelopathy, the patient's neurologic deficits improved after steroid therapy. However, she died of recurrent myelopathy with systemic complications 4 months later. Review of the English-language literature revealed only 3 cases of primary SS associated with ATM, none of the 3 patients had skin lesions. Anti-Ro(SS-A) antibodies, and ATM in our patient suggests that immune-mediated vasculopathy may play a role in the pathogenesis of acute myelopathy in primary SS.

The use of evoked potentials for clinical correlation and surgical outcome in cervical spondylotic myelopathy with intramedullary high signal intensity on MRI.

OBJECTIVE: To investigate the use of motor evoked potentials (MEPs) and somatosensory evoked potentials (SEPs) for clinical significance and surgical outcome in patients with cervical spondylotic myelopathy (CSM) with intramedullary high signal intensity on T2 weighted MRI. METHODS: Forty nine patients were scored according to the modified Japanese Orthopaedic Association (JOA) score for cervical myelopathy. MEP and SEP studies were performed and the results were categorised as normal or abnormal. Thirty nine patients who had received surgical decompression were re-evaluated after 6 months. Surgical outcome was represented by the recovery ratio of the JOA score. RESULTS: Abnormal MEPs were observed in 44 patients (arm: 43; leg: 30). Abnormal SEPs were found in 32 patients: (median: 24; tibial: 23). Patients with abnormal SEPs had a worse JOA score than those with normal SEPs. Thirty nine patients received surgical treatment. Patients younger than 55 had better recovery ratios than those who were 55 or older (p = 0.005, two sample Student's t test). Patients with normal median SEPs also had better recovery ratios than those with abnormal median SEPs (p = 0.007, two sample Student's t test). Among median SEP variables, only N9-20 was significantly associated with recovery ratio (p = 0.016, stepwise linear regression), with age factor controlled (p = 0.025, stepwise linear regression). CONCLUSION: Arm MEP was the most sensitive EP test for detecting myelopathy in patients with chronic CSM. Median and tibial SEPs correlated well with the severity of myelopathy while normal median SEPs correlated with good surgical outcome. Among median SEP variables, only N9-20 correlated with surgical outcome.

Intramedullary high signal intensity on T2-weighted MR images in cervical spondylotic myelopathy: prediction of prognosis with type of intensity.

PURPOSE: To examine whether the different appearances of intramedullary high signal intensity (SI) on T2-weighted MR images in cervical spondylotic myelopathy are related to differences in surgical prognosis. MATERIALS AND METHODS: The magnetic resonance (MR) findings and Japanese Orthopedic Association (JOA) score of 64 cervical spondylotic myelopathy patients, who underwent decompression surgery, were evaluated. SIs were classified as type 0 if no intramedullary high SI on T2-weighted MR images was noted, type 1 if a predominantly (>50%) faint and fuzzy border of high SI was noted, or type 2 if a predominantly (>50%) intense and well-defined border of high SI was noted. Postoperative JOA scoring and MR imaging were also performed 6 months after surgery. Recovery ratios were calculated. RESULTS: There were 20 type 0, 23 type 1, and 21 type 2 cases. Statistical analyses showed no significant difference in age, sex, cervical curvature, and preoperative JOA score between the three groups. Statistical analyses of the recovery ratio showed significantly poor prognosis of type 2 compared with type 1 (P < .001) and type 0 (P =.001), but no difference between types 0 and 1 (P = .317). After controlling for factors of age, sex, preoperative JOA score, cervical curvature, and cord compression ratio, analysis of covariance showed the same result. CONCLUSION: Type 1 intramedullary high SI on T2-weighted MR images indicates a better surgical outcome than does type 2.

Guillain-Barré syndrome in Taiwan: a clinical study of 167 patients.

OBJECTIVE: To identify clinical characteristics of various forms of Guillain-Barré syndrome in Taiwan. METHODS: The clinical and electrophysiological data of 167 consecutive patients with Guillain-Barré syndrome admitted to Chang Gung Memorial Hospital, a general paediatric and adult hospital in Taiwan, were reviewed. RESULTS: Analysis of age distribution disclosed a high incidence (21%) among patients under the age of 10 years. Seasonal preponderance in Spring (March to May) was found. Utilizing clinical and electrophysiological data, these 167 patients with Guillain-Barré syndrome were subclassified; 82 (49%) had acute inflammatory demyelinating polyradiculoneuropathy (AIDP), 32 (19%) had Fisher syndrome (FS), and six (4%) had axonal forms of Guillain-Barré syndrome. The remaining 47 (28%) patients were unclassified. Patients with AIDP and FS had many common clinical features, including seasonal distribution, history of preceding illness, sensory abnormalities, cranial nerve involvement except for extraocular motor nerves, and albuminocytological dissociation on examination of CSF. Follow up study on 145 patients disclosed that 127 (87%) recovered satisfactorily, 14 (10%) were persistently disabled, and four (3%) died during admission to hospital. Clinical features associated with poor outcome (persistent disability or death) were requirement for mechanical ventilation, a low mean compound muscle action potential amplitude (< or = 10% of the lower limit of normal), and age greater than 40 years. CONCLUSION: Guillain-Barré syndrome in Taiwan showed a peculiar age and seasonal distribution and a high frequency of FS not seen in other series. Given that patients with AIDP and FS had many common clinical features, AIDP and FS may have similar underlying pathological mechanisms.

Myasthenia gravis and Charcot-Marie-Tooth disease type 1A: an unusual combination of diseases.

Concurrence of myasthenia gravis (MG) and Charcot-Marie-Tooth type 1 (CMT1A) neuropathy is rare. We describe a 60-year-old woman with MG and genetically proved CMT1A. The fluctuating ocular symptoms and proximal limb weakness were markedly improved by pyridostigmine treatment. Recognition of the possible association of MG and CMT1A in the same patient is important because the therapeutic result is rewarding.