Abnormal movements in complex regional pain syndrome: assessment of their nature

Abnormal movements may be a clinical feature in complex regional pain syndrome (CRPS), but their basic nature is unclear. Between August 1989 and September 1998, patients fulfilling diagnostic criteria for CRPS (I or II) and displaying abnormal movements were entered into a prospective study. Fifty-eight patients, 39 women and 19 men, met entry criteria; 47 had sustained a minor physical injury at work. The patients exhibited various combinations of dystonic spasms, coarse postural or action tremor, irregular jerks, and, in one case, choreiform movements. Patients underwent rigorous clinical and laboratory evaluation aimed at characterizing their neurological disturbance. Surprisingly, no case of CRPS II but only cases of CRPS type I displayed abnormal movements. In addition to an absence of evidence of structural nerve, spinal cord, or intracranial damage, all CRPS I patients with abnormal movements typically exhibited pseudoneurological (nonorganic) signs. In some cases, malingering was documented by secret surveillance. This study highlights abnormal movements in CRPS as constituting a key clinical feature that differentiates CRPS I from CRPS II. They are consistently of somatoform or malingered origin, signaling an underlying psychoneurological disorder responsible for the entire CRPS profile.     

晚发型糖原累积病II型的临床和病理研究

目的：总结晚发型糖原累积病II型（CSDII型）的临床及病理学特点。方法：回顾性分析11例GSDII型患者的临床和病理资料,并对部分患者进行随访。结果：临床表现为对称性四肢肌无力,以近端受累为主,可伴有呼吸肌无力,肌酸激酶（cK）可有不同程度升高,肌电图检查均呈肌源性损害肌电表现,可伴肌强直电位。外周血α-1,4-葡萄糖苷酶活性明显减低,肌肉活组织检查均以肌纤维空泡样变为主要病理特征,过碘酸希夫反应可见空泡内大量糖原沉积,酸性磷酸酶染色阳性。结论：晚发型GSDII型多表现为慢性肌病,易累及四肢肌和呼吸肌,血清CK轻度至中度升高,肌肉病理见明显空泡样变。α-葡萄糖苷酶活性明显减低,有助于确诊。     

Lipid disturbances associated with spiral muscular atrophy. Clinical, electromyographic, histochemical, and lipid studies.

Twelve patients with juvenile- and adult-onset spinal muscular atrophy have been studied. Eleven of the twelve patients had either type II, type IV, or borderline abnormal phenotypes, suggesting a possible relationship between serum lipid abnormalities and neuronal degeneration in the spinal muscular atrophies. Muscle enzyme histochemical studies provided valuable diagnostic information. Extensor toe signs and talipes cavus were common clinical observations.     

Neonatal subdural hematoma secondary to tentorial tearing--clinical analysis on 48 survived cases

In order to evaluate the treatments of subdural hematoma in neonates and to observe their prognosis, we carried out clinical analyses on 48 survived cases in the past three years from Jan. 1979 to Dec. 1981. Based on CT observations, hematomas were grouped into four types according to their locations as follows: Type I, localized around the posterior interhemispheric fissure in 25 cases (52%); Type II, extending from the posterior interhemispheric fissure to the hemispheric convexity in five cases (10%); type III, extending from incisura to the posterior fossa in 15 cases (31%); and type IV, having subdural hematoma accompanied by intracerebral hemorrhage in three cases (7%). Intracranial pressure was measured via the anterior fontanelle in 13 cases. Ten patients who had extensive hemorrhage were found to exceed above 200 mmH2O in the pressure. Ages of the patients studied were 0 to 7 days old. There were 36 mature infants (75%) and 12 cases immature (25%). The maternal history of delivery was primiparous in 27 cases (56%). The fetal presentations were 38 cephalic (79%) and 10 suction deliveries (21%). The fundus oculi was examined on 32 patients. Retinal hemorrhage was noted in 12 cases. Operations were performed on 13 patients in total; one case in type I, four cases in type II, five cases in type III and three cases in type IV. Functional prognoses were found to be as follows; Type I; normal, 15 cases, abnormal, four and undetermined, six: type II; normal, four and abnormal, one: type III; normal, 13, abnormal, one, and undetermined, one: and type IV; normal, two and abnormal, one case.     

Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation

OBJECTIVE: Adult onset type II citrullinemia is an inherited disorder of amino acid metabolism caused by a deficiency of liver specific argininosuccinate synthetase activity. Most of the patients with this disease were reported in Japan and therefore, this disease has not been well recognised outside this country. The detailed clinical pictures of the patients with type II citrullinaemia are reported and their outcomes after liver transplantation referred to. METHODS: Ten patients with this disease were evaluated. Seven of them underwent liver transplants using a graft obtained from a healthy family member. RESULTS: There were six men and four women; the age of onset of encephalopathy ranged from 17 to 51 years. The initial symptom in nine patients was sudden onset disturbance of consciousness, and one patient had long been regarded as having a chronic progressive psychotic illness. High concentrations of plasma citrulline and ammonia were commonly seen on admission. Although brain CT or MRI lacked any consistent findings, the EEG was abnormal in all patients, showing diffuse slow waves. Additionally, in five patients chronic pancreatitis preceded the onset of encephalopathy. After liver transplantation the metabolic abnormalities, including abnormal plasma concentrations of citrulline and ammonia, were immediately corrected and all neuropsychic symptoms soon disappeared, except for impaired cognitive function in one patient. Six out of these seven patients returned to their previous social lives, including work. CONCLUSIONS: The clinical concept of adult onset type II citrullinaemia coincides well with the range of hepatic encephalopathy, and liver transplantation is a very promising therapeutic approach.     

Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis

The lumbosacral cord segments of 10 infants with varying clinical forms of neurogenic arthrogryposis were compared with similar spinal cord segments from an infant with congenital contractures secondary to uterine constraint, 8 infants with Werdnig-Hoffman syndrome, and 11 age-matched controls. Neuronal numbers, sizes, and distribution were measured within the anterior horns. In addition to the classical reduction in the numbers of alpha motor neurons in both pathologic states, this study found the smaller neurons of the anterior horn were absent or diminished in Werdnig-Hoffman syndrome, while those cells were present in increased numbers with abnormal histology in all the patients with arthrogryposis. In 5 of the patients with arthrogryposis, the pathologic pattern was consistent throughout each cord segment; in 5 others, normal alpha neurons were retained and unequally distributed in the anterior horn segments. This unequal distribution predicted the muscle group involvement and suggested the mechanism for intrauterine joint fixation in these patients. The pathologic changes in the patients with arthrogryposis appear to be unique in spite of the heterogeneity of etiology and the clinical presentation.     

Weekly monitoring of dexamethasone suppression response in depression: its relationship to change of body weight and psychopathology

Weekly dexamethasone suppression tests (DST) were performed in 19 hospitalized patients with major depressive disorder, endogenous subtype, and who had an abnormal DST at admission. Depression scores (Hamilton Rating Scale) and weight changes were collected by investigators who were blind to the test results. Major findings were: (1) the DST gradually normalized 3-4 weeks prior to full resolution of clinical symptomatology; (2) weight loss was an important patient variable which may have contributed to false positive DST results; however, the positive correlation between changes in DST results and changes in depression scores in all our patients with or without weight loss suggests that psychopathological factors other than weight change participate in the development of dexamethasone resistance in depression; (3) the low dose (1 mg) version of the test requires careful control of minor medical disturbances, which can make the test result ambiguous. The data suggest that after resolution of some methodological issues the DST may serve as a valuable laboratory test to monitor clinical progress during drug treatment.     

Somatosensory evoked potentials in Charcot-Marie-Tooth disease

SEPs by median nerve stimulation have been performed in 18 adult patients (12 males and 6 females) affected by CMTD (type I, 13 patients; type II, 5 patients). All patients underwent MCV studies (median, ulnar, peroneal nerve), SCV studies (median and sural nerve), VEP, BAEP. N9 and N13 peaks were not detectable in 7/13 and 5/13 cases (HMSN type I) while cortical N19 were always recorded. Latency values of all responses were moderately or markedly delayed in all cases with HMSN type I, but proved normal or slightly delayed in HMSN type II cases. The prolonged latencies were mainly related to slowing of peripheral conduction. N9-N13 inter-peak was abnormally prolonged in 2 cases and N13-N19 in 2 other cases; both were prolonged in another case. In another 3 cases an abnormal BAEP was recorded. The few patients with abnormal CCT and BAEP probably belong to a borderline form between HMSN and hereditary ataxias.     

Abnormal breathing patterns during sleep in diabetes

Nineteen diabetic patients, 12 type I (insulin-dependent) and 7 type II (late-onset, non-insulin-dependent), underwent nocturnal polygraphic monitoring after a daytime medical evaluation that included tests of vagal responses and, in 6 patients, pulmonary function and hypercapnic and hypoxic responses. Five lean type I patients had abnormal sleep-related breathing patterns with central or obstructive sleep apnea and brief breathing irregularities during stages 3 to 4 non-rapid-eye-movement sleep, compared with only 1 overweight type II diabetic with moderate obstructive sleep apnea. There was no correlation between daytime ventilatory study findings and abnormal breathing patterns during sleep, but there was a clear relationship between neuropathy and sleep-related breathing abnormalities in type I insulin-dependent diabetics.     

Evolution of muscle specific proteins in Werdnig-Hoffman's disease.

The pattern of expression of desmin, vimentin, titin and different myosin isoforms expressed in atrophic and hypertrophic type I and type II muscle fibers was investigated in 7 biopsies from patients of various ages all diagnosed as suffering from Werdnig-Hoffman's disease. The results revealed that there was a progressive atrophy affecting both type I and type II muscle fibers. The proportion of atrophic type II fibers increased with age. These atrophic fibers expressed predominantly fast MHC together with variable amounts of embryonic and fetal abnormal concentrations of desmin, vimentin and titin were also observed in some of these fibers. Hypertrophic type I fibers expressed exclusively slow MHC. These results are in good agreement with the hypothesis that Werdnig-Hoffman's disease is associated with a persistence of slow twitch type I motor units and a loss of phasic type II motor units. They also confirm that the atrophic fibers were frequently immature although embryonic MLC was never detected in these muscles. In addition we have demonstrated that the hypertrophic fibers were not completely normal since they frequently contained abnormal concentrations of desmin and titin at their periphery.     

2型糖尿病患者视觉诱发电位改变及其相关因素分析

目的探讨2型糖尿病患者视觉诱发电位(pattern visual evoked potential,P-VEP)改变的特点及其与各临床因素之间的关系。方法对109例2型糖尿病患者及40例健康体检者进行P-VEP的检测,病例组按病程分为病程<5年组、5年≤病程<10年组、病程≥10年组。回顾性分析各组生化指标、肌电图等临床资料与P-VEP改变的相关性。应用SPSS统计软件进行统计学处理。结果病例组P-VEP总异常率为27.52%,病程<5年组P-VEP异常8例(20.00%),5年≤病程<10年组P-VEP异常8例(25.81%),病程≥10年组P-VEP异常14例(36.84%),各组间其异常率比较差异无统计学意义(P>0.05)。P100潜伏期的改变:病程≥10年组的P100潜伏期较对照组明显延长(P<0.05),病程<5年组、5年≤病程<10年组的P100潜伏期较对照组无明显变化(P>0.05)。P100枕中波幅改变:5年≤病程<10年组,病程≥10年组的枕中波幅较对照组明显降低(P<0.05),病程<5年组的枕中波幅较对照组无明显变化(P>0.05)。周围神经病变严重组(病变神经数>4条)的枕中波幅较周围神经病变较轻组(病变神经数≤4条)明显降低(P<0.05)。非条件Logistic逐步回归分析显示病程和糖化血红蛋白是2型糖尿病患者视力损害的相关因素。结论 P-VEP是早期发现2型糖尿病患者视神经病变的无创检测手段。病程和糖化血红蛋白是2型糖尿病患者视神经病变的相关因素。     

Histochemical fibre-type profile in the human masseter muscle

A histochemical characterization of the masseter muscle was performed on biopsy samples of dentate subjects with normal occlusion. There was a continuum of ranges of oxidative and glycolytic capacities of the masseter muscle fibres. Besides the lightly-stained type I and the darkly-stained type II fibres, fibres with intermediate staining reactions for standard ATPase at pH 9.4, IM fibres, were seen in all biopsy samples. IM fibres had some staining characteristics in common with type I, i.e. the reaction for NADH-TR and for ATPase after preincubation at pH 4.6 and 4.2. Like type II fibres they showed strong reaction for menadione-linked alpha-glycerophosphate dehydrogenase and for phosphorylase. The ATPase reaction after preincubation at pH 4.6 did not generally reveal subtypes of type II. It is concluded that the masseter muscle in normal human subjects has a very special fibre composition, with ATPase-IM fibres being a part of the normal fibre population.     

A clinical staging classification for type C Niemann-Pick disease.

Analysis of the temporal sequence of neurologic events, neurophysiologic abnormalities, and longevity in 36 Niemann-Pick type C patients revealed two clinical subgroups with five stages of severity within each group. Patients with a preschool onset (group I; n = 18) had a higher mortality than did patients with a school-age onset (group II; n = 18). An asymptomatic phase (stage 0) was defined by biochemical and histopathologic evidence of disease. The initial manifestations of stage 1 were a movement disorder (group I) and cognitive difficulties (group II) accompanied by impaired vertical saccadic eye movements and abnormal acoustic reflexes. Stage 2 was characterized by the sequential occurrence of vertical supranuclear gaze palsy (VSGP), cognitive difficulties, and dysarthria in group I and a movement disorder, VSGP, and dysarthria in group II. Pyramidal tract signs and abnormal brainstem auditory evoked responses defined stage 3 in both groups. Stage 4 culminated in a nonambulant, vegetative state.     

Features of probable multiple system atrophy patients identified among 4770 patients with parkinsonism enrolled in the multicentre registry of the German Competence Network on Parkinson’s disease

Summary We identified 221 patients with probable multiple system atrophy (MSA) among 4770 patients enrolled in the multicentre registry of the German Competence Network on Parkinson’s disease (PD) according to the established consensus criteria to characterize their clinical presentation. Analyses of more than 100 recorded clinical items revealed several specifics: I) 50% of patients with probable MSA had asymmetry of symptoms at disease onset and tremor at rest was present in 25%; II) a positive response to levodopa was recorded in 51% of patients identified initially with severe autonomic failure and cerebellar ataxia; III) a positive family history was recorded in 11% (n = 23), two of these patients were identified with spinocerebellar ataxia type 3 (SCA3). Thus asymmetry of symptoms, tremor at rest and a positive response to levodopa are not as specific for idiopathic PD as believed previously. Patients with SCA3 may present with the clinical features of MSA.     

Investigation of the utility of colorectal function tests and Rome II criteria in dyssynergic defecation (Anismus)

Although 30-50% of constipated patients exhibit dyssynergia, an optimal method of diagnosis is unclear. Recently, consensus criteria have been proposed but their utility is unknown. To examine the diagnostic yield of colorectal tests, reproducibility of manometry and utility of Rome II criteria. A total of 100 patients with difficult defecation were prospectively evaluated with anorectal manometry, balloon expulsion, colonic transit and defecography. Fifty-three patients had repeat manometry. During attempted defecation, 30 showed normal and 70 one of three abnormal manometric patterns. Forty-six patients fulfilled Rome criteria and showed paradoxical anal contraction (type I) or impaired anal relaxation (type III) with adequate propulsion. However, 24 (34%) showed impaired propulsion (type II). Forty-five (64%) had slow transit, 42 (60%) impaired balloon expulsion and 26 (37%) abnormal defecography. Defecography provided no additional discriminant utility. Evidence of dyssynergia was reproducible in 51 of 53 patients. Symptoms alone could not differentiate dyssynergic subtypes or patients. Dyssynergic patients exhibited three patterns that were reproducible: paradoxical contraction, impaired propulsion and impaired relaxation. Although useful, Rome II criteria may be insufficient to identify or subclassify dyssynergic defecation. Symptoms together with abnormal manometry, abnormal balloon expulsion or colonic marker retention are necessary to optimally identify patients with difficult defecation.     

Genetics of Lesch's typology of alcoholism

It is widely accepted that dopamine and serotonin (5-HT) neurotransmission can be critically involved in the development of alcohol abuse and alcohol dependence. Lesch's typology of alcoholism has been gaining increasing popularity as it qualitatively differentiates patients into different treatment response subgroups. The aim of the present study was to evaluate a possible genetic background of Lesch's typology with special emphasis placed on dopamine- and serotonin-related genes. 122 alcoholics (the mean age: 35+/-9 years) were investigated. According to Lesch's typology, 58 patients were of type I, 36 patients of type II, 11 patients of type III, and 17 patients of type IV. Alcohol drinking and family history was assessed by means of a structured interview, based on the Semi-Structured Assessment for the Genetics of Alcoholism. 150 control subjects without psychiatric disorders were also recruited. The control group was ethnically-, age- and gender-matched to the patients. The DRD2 TaqIA, exon 8, and promoter -141C ins/del polymorphisms as well as COMT Val158Met, 5HTT 44 bp del in promoter, and DAT 40 bp VNTR polymorphisms were detected by means of PCR. No significant differences were observed when the whole group of alcoholics and the controls were compared. Similarly, there were no differences between either the Lesch type I or type II alcoholics and the control subjects. No significant differences were observed between type I and type II alcoholics. Alleles frequencies were not calculated for the Lesch type III and type IV alcoholics since the number of patients was too small. The present results argue against any major role of the investigated polymorphisms in either Lesch type I or type II alcoholism. More comprehensive studies are needed to define the role of the investigated polymorphisms in Lesch type III and type IV alcoholism.     

A comparative study of rapid and non-rapid cycling types in bipolar affective disorder]

It was a prospective and comparative study on the two types of bipolar affective disorder--rapid cycling (RC) and nonrapid cycling (NRC). Each group contains 51 cases separately. Both of the two types are included in bipolar disorder, so they have a lots in common in respect of clinical phenomenology. But the episode frequency of some patients in RC group is characterized as extremely rapid cycle. And there are more premorbid psychosocial factors in RC group than that in NRC group. In contrast with NRC, the RC is more common in type II bipolar disorder. We think that RC is a clinical subtype in bipolar affective disorder, having a close bearing on type II. For the function of HPT axis, we investigated the premorbid thyroid history and observed its changes, but no abnormal signs were found. Plasma level of TSH was determined among some cases in the two types, all the results are in normal range, and the average level of TSH was not significantly different between the groups.     

Clinical and histochemical findings in spinal muscular atrophy]

The childhood form of the spinal muscular atrophy (SMA) is classically subdivided into three groups on the basis of a combination of age of onset, milestones of development and age of survival: acute Werdning-Hoffmann (type I), intermediate Werdnig-Hoffmann (type II) and Kugelberg-Welander disease (type III). Now we examined 7 cases of type I and 9 cases of type II on clinical and histochemical ground. Of the total of 16 cases, 5 cases had a family history of the disease. (1) In type I, three were males and 4 females. The onset was within 30 days and the disease was manifest before or at delivery in 3 cases. The progression was so severe. All cases were dead by 10 months. They showed generalized hypotonia, abnormal respiration and could not sit without support. In type II, five were males and 4 females. The onset of the disease was between the age of 3 and 15 months. The progression was slow. All patients couldn't walk by themselves at all but 7 of them had abilities to sit without support. Clinically it was easy to classify type I from type II. (2) The most characteristic histochemical findings of both types were group atrophy, fiber hypertrophy, fiber type predominance and fibrosis. Though there was a slight difference between two types in histological pattern, the basis was so similar. There is controversy about the proper classification of recessive childhood SMA. Now it is suggested that the majority of both acute and chronic cases are allelic, similar to the patterns of Duchenne and Becker forms of muscular dystrophy.     

Gait abnormalities in psychogenic movement disorders.

An abnormal gait is not uncommon in patients with medically unexplained neurological symptoms, including those with other psychogenic movement disorders (PMDs). Previous studies have not evaluated the gait characteristics of patients with a variety of PMDs and there are no reports comparing PMDs with and without gait disturbances. We were interested in determining how those with and without additional involvement of gait differed and how PMD patients differed from those with a pure psychogenic gait disorder (PGD) in the absence of another PMD. We investigated gait features in a large series of patients with PMD (n = 279), dividing them into two groups (Group I with a normal gait and Group II with an abnormal gait). Group I included those with PMD with a normal gait and no change in the PMD while walking (I-1), and those with a change in PMD while walking, but not affecting gait (I-2). Group II was divided into those with PMD with additional abnormal gait (II-1) and those with pure psychogenic gait disorder without other abnormal movements (II-2). Excessive slowing of movement was more common in PMD patients with an abnormal gait (Group II) compared to those without (Group I). Slowness of gait was the most common feature in patients with PMD combined with a PGD (II-1) and buckling of the knee pattern was the most common type of pure PGD (II-2), followed by astasia-abasia.     

Peripheral neuropathy following a single exposure to arsenic. Clincal course in four patients with electrophysiological and histological studies.

Four patients are described who developed a peripheral neuropathy 10 days to 3 weeks after ingestion of a single dose of arsenic. All improved slowly, but after 6 to 8 years 3 of them still had abnormal neurological symptoms and signs. Electrophysiological studies showed reduction of motor conduction velocity and marked abnormalities of sensory nerve action potentials. The findings suggest that conduction is abnormal in at least some surviving nerve fibres. Sural nerve biopsies from 2 patients showed axonal degeneration, which was at an early stage in some fibres, even 10 weeks after intoxication.