A case of Machado-Joseph disease--cerebral blood flow and cerebral metabolic rate of oxygen]

A 51-year-old woman, with progressive gait disturbance and dysarthria, had been diagnosed as Menzel-type spinocerebellar degeneration. Later, she developed dystonic posture of upper limbs and bulging eyes. She was diagnosed as Machado-Joseph disease from neurological findings, which consisted of cerebellar signs, pyramidal tract signs and extrapyramidal tract signs and peripheral neuropathy. She died suddenly of unknown origin. Her illness lasted about 13 years. Neuropathological findings showed moderate neuronal loss with gliosis in the subthalamic nucleus, globus pallidus, substantia nigra, dentate nucleus, oculomotor and hypoglossal nucleus and anterior horn. Positron emission tomography (PET) using 15O steady state inhalation technique revealed reduction of cerebral blood flow and cerebral metabolic rate of oxygen in not only cerebellum but also cerebral cortex. These findings are different from typical PET findings of spinocerebellar degeneration.     

Constant involvement of the Betz cells and pyramidal tract in amyotrophic lateral sclerosis with dementia: a clinicopathological study of eight autopsy cases

We investigated clinicopathologically pyramidal signs, including hyperreflexia, Babinski sign, and spasticity, and the involvement of the primary motor cortex and pyramidal tract, in eight Japanese autopsy cases of amyotrophic lateral sclerosis (ALS) with dementia. Pyramidal signs were observed in seven (88%) of the eight autopsy cases. Hyperreflexia and Babinski sign were evident in seven (88%) and three (38%) patients, respectively, but spasticity was not observed in any of the eight patients. Loss of Betz cells in the primary motor cortex was evident in the seven cases in which this structure was examined. Astrocytosis in the fifth layer of the primary motor cortex was noticed in three cases. In all eight cases, involvement of the pyramidal tract was obvious in the medulla oblongata, but no involvement of the pyramidal tract was found in the midbrain. Involvement of the pyramidal tract in the spinal cord, particularly of large myelinated fibers, was observed in all six cases in which the spinal cord was examined. In ALS with dementia, pyramidal signs were shown to be present more frequently than previously believed, and the clinicopathological correlation between pyramidal signs and involvement of the pyramidal tract was obvious. Constant involvement of Betz cells and the pyramidal tract in ALS with dementia has not been reported. Our clinicopathological findings may make a contribution to the understanding of the clinicopathological hallmarks of this disorder. Furthermore, we believe that this study will also contribute to the elucidation of the nosological status of ALS with dementia.     

A case of probable cytomegalovirus encephalitis who restored from persistant disturbance of consciousness

A 50-year-old woman presented with confusion, fever and drowsiness following an episode of headache and dizziness. On admission, neurological examination found positive pyramidal tract signs, meningeal irritation, and bilateral myoclonus in her arms. Laboratory tests revealed liver dysfunction, positive inflammatory reaction, elevated serum IgM antibody against cytomegalovirus, and increased cerebrospinal fluid protein of 67 mg/dl. MRI of brain by diffusion weighted imaging showed a wide spread hyperintense lesion in white matter and limbic areas. We administered aciclovir, ganciclovir and steroid pulse therapy that showed a limited effect in the initial stage. In spite of all these therapies, she suffered from status epilepticus, followed by persistent disturbance of consciousness for about 2 months. However, her level of consciousness and motor deficit were gradually improved by continuous administration of ganciclovir. The present case indicates that prolonged disturbance of consciousness due to cytomegalovirus encephalitis could be restored with continuous ganciclovir administration.     

Fractional anisotropy values detect pyramidal tract involvement in multiple system atrophy

OBJECTIVE: Pathological studies have shown remarkable pyramidal tract involvement in multiple system atrophy (MSA), while clinical pyramidal signs are relatively rare. We investigated the fractional anisotropy (FA) values to assess the degree of pyramidal tract involvement in MSA, in comparison with amyotrophic lateral sclerosis (ALS) and controls. Furthermore, we compared FA values between MSA patients with or without clinical pyramidal signs and controls, and between MSA patients with or without positive conventional MRI findings and controls. METHODS: We evaluated FA values in the internal capsule, corona radiate and whole pyramidal tract using visualized tractography of 65 subjects (20 probable MSA patients, 28 age-matched ALS patients, and 17 age-matched healthy controls) using a 3.0T magnetic resonance system. RESULTS: The FA values in the internal capsule, corona radiate, and whole pyramidal tract were significantly lower in MSA patients than in controls and were at a level similar to those of ALS patients. In addition, low FA values were prominent in MSA patients, even in those with short duration of illness, lacking precentral gyrus hyperintensity in FLAIR images, and without pyramidal signs. CONCLUSION: FA values could identify pyramidal tract degeneration even in patients with early phase MSA and those without clinical pyramidal signs or abnormal MRI findings. More extensive degeneration of the pyramidal tract occurs in MSA than so far believed.     

Constant involvement of the Betz cells and pyramidal tract in multiple system atrophy: a clinicopathological study of seven autopsy cases

We investigated clinicopathologically the pyramidal signs, including spasticity, hyperreflexia, and Babinski’s sign, and the involvement of the pyramidal tract and primary motor cortex, in seven Japanese autopsy cases of multiple system atrophy (MSA). Pyramidal signs were observed in six (86%) of the seven autopsy cases. Hyperreflexia and Babinski’s sign were each evident in five patients, but spasticity was observed in only one patient. Loss of Betz cells and presence of glial cytoplasmic inclusions in the primary motor cortex were noticed in all seven cases. Astrocytosis in the fifth layer of the primary motor cortex was noticed in five cases, but its presence was not related to the duration of the disease. Involvement of the pyramidal tract in the spinal cord, particularly of the small myelinated fibers, was observed in all seven cases, but no involvement of the pyramidal tract in the midbrain was evident in any of the six cases in which this structure was examined. In MSA, pyramidal signs were shown to be present more frequently than believed before, and the clinicopathological correlation between pyramidal signs and involvement of the pyramidal tract was obvious. Constant involvement of Betz cells in MSA has not been reported. Our clinicopathological findings may also make a contribution to the understanding of the clinicopathological hallmarks of MSA. Received: 28 June 1999 / Revised: 13 September 1999 / Accepted: 30 September 1999     

Chlamydia trachomatis infection with symptoms and signs of the central nervous system damage--a case report]

A 32-year-old woman developed myalgia, fever, consciousness disturbance, mental disorder, pyramidal tract signs and meningeal irritation signs at about 2 months after a normal labor. Laboratory examination showed hypopituitarism (decreased ACTH, TSH), renal dysfunction and hypercalcemia. A variety of antibiotics, acyclovir and gamma-globulin failed to improve her symptoms. A diagnosis of Chlamydia trachomatis infection was considered from the elevated antibody titers. In this case, minocycline was very effective. Rarely Chlamydia trachomatis infection involved general organs, including the central nervous system. It was interesting that she had endocrine disorders. We must take a look for Chlamydia trachomatis infection because this infection infrequently involves general organs, including the central nervous system and minocycline is very effective for this infection.     

Delayed encephalopathy following acute fentanyl intoxicication]

We report an 84-year-old woman who suffered from acute fentanyl intoxication followed by delayed encephalopathy. She used fentanyl patch at her ached knee joint and stayed in the covered table with a heat source underneath. Serum concentration of fentanyl suddenly elevated and she developed coma due to acute fentanyl intoxication. She gradually recovered, however, she showed consciousness disturbance again at 15th day and developed neurological symptoms including mutism, pyramidal tract signs, frontal lobe signs and parkinsonism. These symptoms also steadily improved without specific treatment, and became able to talk with colleagues and walk with assistance at 90th day. We considered that delayed encephalopathy due to periodic anoxia caused by fentanyl intoxication occurred in the present patient; however, the neurological sequelae were relatively mild as compared with reported cases of carbon monoxide intoxication. Neuroprotective effect of fentanyl may have contributed to the better prognosis in the present patient.     

Asymmetric Neuroimaging in Creutzfeldt-Jakob Disease: A Ruse

Creutzfeldt-Jakob disease (CJD) causes diffuse neurological symptoms, but asymmetric lesions have been found on conventional magnetic resonance imaging (MRI) and diffusion-weighted imaging (DWI). Less often, position emission tomography (PET) scanning can also reveal asymmetric lesions in patients with CJD. Such imaging may mislead clinicians. The authors present a case of a woman with CJD who was diagnosed as having suffered a stroke because she had asymmetric T2-weighted imaging (T2WI) MRI abnormalities that were interpreted as a stroke. It was noted that the patient had clinical features consistent with CJD, including rapidly progressive dementia, myoclonus, cerebellar dysfunction, and pyramidal and extrapyramidal signs. This diagnosis was supported by periodic epileptiform discharges on the electroencephalogram (EEG) and by elevated 14-3-3 protein in the cerebrospinal fluid. MRI T2WI and DWI showed dramatically asymmetric abnormalities involving the left cortex. A PET study found decreased metabolism in the left cerebral and right cerebellar hemispheres. The patient's clinical, EEG, and laboratory data were all consistent with CJD, not other diseases, but the MRI and PET had atypical, asymmetric findings. This case demonstrates that CJD should be considered in the differential diagnosis of patients with rapidly progressive neurological decline, even if they have asymmetric imaging findings.     

The crossed upgoing toe sign: A clinical study

We compared the crossed upgoing toe sign with the plantar response as an indicator of pyramidal tract dysfunction in 125 normal subjects and 192 patients with neurological disorders. A positive crossed upgoing toe sign was associated significantly with a partial pyramidal tract lesion in the contralateral cerebral hemisphere with a frequency similar to that of Babinski's sign. Unlike Babinski's sign, however, the positive crossed upgoing toe sign was lost when pyramidal weakness was severe enough to produce paralysis of voluntary dorsiflexion of the great toe, and it was found only rarely with pyramidal tract lesions of the spinal cord. The crossed upgoing toe sign has little value as a sensitive indicator of a pyramidal tract lesion. It is potentially of limited value as an aid in determining the level of a pyramidal tract lesion (cerebral hemisphere versus spinal cord), but its usefulness is seriously impaired by the high frequency of false positive signs in normal subjects and patients with other neurological disorders.     

海络因白质脑病的临床特征及影像学观察

目的　分析和探讨海络因白质脑病 (heroin leukoencephalopathy,HLE)的临床特点、诊断规律、发病机制及防治经验。方法　对 2例男性 HLE患者的临床症候进行观察 ,均行头颅 CT及磁共振 (MRI)检查 ,其中 1例行弥散加权成像 (DWI)。结果　 2病例均为急性起病 ,以言语含糊、行走不稳等小脑共济运动障碍表现为主 ,反应迟钝 ,锥体束征阳性。头颅 CT及 MRI可见双侧小脑、内囊后肢、枕顶叶深部白质、胼胝体、脑干等白质区域异常信号 ,CT示低信号 ,MRI呈长 T1、长 T2信号影 ,DWI为高信号影。结论　 HLE可根据有吸毒史 ,并结合临床及影像学特点进行诊断 ,对于戒毒者戒毒时应在神经保护的前提下进行 ,或许能减少或避免 HLE的发生。     

Neurological diseases and accidental falls of the aged

OBJECTIVE: To assess the influence of central and peripheral neurological diseases on the incidence of accidental falls of the aged. DESIGN: 1. Case-control study with cross-section at two years and 2. prospective study in a follow-up up to seven years thereafter. SETTING: Sample of a population study including all 589 inhabitants older than 70 years in three rural communities. PARTICIPANTS: 44 subjects with recurrent falls during two years' follow-up and 41 age and sex matched controls. MEASURES: Neurological diseases and evaluation, other diseases, and incidence of falls during the seven years' follow-up after the cross-section. RESULTS: Compared with the controls the fallers had more often multiple vascular lesions of the brain, extrapyramidal symptoms and signs as well as lumbar nerve root lesions. In the follow-up, cerebrovascular disease, especially with multiple lesions and residual signs of pyramidal tract lesion, Parkinson's disease, rigidity and hypokinesia were associated with increases risk of falling. In multivariate analysis signs of pyramidal tract lesion, rigidity and prior falls were predictors of falls. An increase in the incidence of falls was also associated with vascular lesion of the cerebellum, cerebral white matter hypodensity and cortical atrophy visible on CT. CONCLUSIONS: High incidence of falls was associated with chronic central nervous system diseases. Lumbar root lesions were more common among the fallers but did not increase the incidence of falls in the follow-up.Neurological diseases and evaluation, other diseases, and incidence of falls during the seven years' follow-up after the cross-section.Compared with the controls the fallers had more often multiple vascular lesions of the brain, extrapyramidal symptoms and signs as well as lumbar nerve root lesions. In the follow-up, cerebrovascular disease, especially with multiple lesions and residual signs of pyramidal tract lesion, Parkinson's disease, rigidity and hypokinesia were associated with increased risk of falling. In multivariate analysis signs of pyramidal tract lesion, rigidity, and prior falls were predictors of falls. An increase in the incidence of falls was also associated with vascular lesion of the cerebellum, cerebral white matter hypodensity and cortical atrophy visible on CT.     

Recurrent herpes zoster encephalitis: A case report

An 89-year-old lady presented with severe right-sided ophthalmic herpes zoster infection and secondary bacterial infection. Two weeks after admission she became very unwell with confusion and drowsiness and later developed bilateral upgoing plantar reflexes. An EEG was highly suggestive of herpes encephalitis and she made a good recovery with acyclovir. Neuropsychological tests showed pathological signs of impaired left temporal lobe function. After a further three weeks she again developed symptoms and signs of herpes zoster encephalitis and a repeat CT scan showed a right internal capsule infarct had developed. Encephalitis after herpes zoster infection is a rare complication but possibly underreported due to difficulties in diagnosis.     

Neurological manifestations of organophosphorous insecticide poisoning

Neurological findings are described in 200 consecutive cases of suicidal ingestion of organophosphorous insecticides. Miosis is almost universal. We found impairment of consciousness in 10%, fasciculations in 27%, convulsions in 1%, toxic delirium in 50%, and paralysis in 26%. Toxic delirium was attributed to treatment with atropine. Paralytic signs were divided into type 1 signs (present on admission) and type 2 signs (appearing later while on atropine treatment). Type 1 signs, chiefly impaired consciousness and bilateral pyramidal tract signs, respond to atropine. The most common type 2 signs are proximal limb weakness, areflexia, and cranial nerve palsies. EMG studies during type 2 paralysis show a myasthenic response in some cases. Of 36 cases with type 2 signs 15 died from respiratory paralysis after a variable period of artificial respiration. Twenty-one recovered and no residual neurological deficit has been noted. Atropine did not influence type 2 paralysis. It is claimed that type 2 signs differ significantly from those described before as `delayed neurotoxicity' and may represent an alternative mode of human toxicity with organophosphorous compounds.     

急性缺血性脑卒中构音障碍及磁共振弥散加权影像特点研究

目的通过分析急性缺血性脑卒中构音障碍的临床及磁共振弥散加权影像特点,探讨构音障碍与脑梗死损害部位关系。方法总结155例早期表现构音障碍的急性缺血性脑梗死患者的临床表现,同时进行磁共振T1加权、T2加权、FLAIR及弥散加权成像检查(diffusion-weighted imaging,DWI),分析构音障碍患者临床与DWI显示梗死灶部位关系。结果155例急性缺血性脑梗死患者中,8例表现为单纯构音障碍(5.2%),141例伴有肢体偏瘫(91%),123例伴有椎体束征(79.4%)。DWI显示梗死病灶主要位于幕上96例(61.9%),病变灶位于左侧。28例患者的DWI显示为腔隙性梗死,其中20例(71%)临床表现为典型的伴构音障碍的腔隙性梗死综合征。结论急性脑梗死引起构音障碍多伴随其它神经功能障碍。梗死病灶多沿皮质延髓束分布,以幕上梗死多见,病灶多位于左半侧,可能与左侧半球对言语功能控制占优势有关。     

Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is a rare neurometabolic disease due to defective activity of sterol 27-hydroxylase, with plasma and tissue cholestanol storage. Clinical phenotype is characterized by both systemic manifestations and neurological signs. Therapy with chenodeoxycholic acid (CDCA) suppresses abnormal bile acid synthesis. The purpose of the study was to assess the frequency and clinical relevance of spasticity in the CTX phenotype and to study the usefulness of transcranial magnetic stimulation (TMS) in detecting corticospinal tract damage and monitoring the effects of replacement therapy. Twenty-four CTX patients underwent clinical evaluation including general disability scores, pyramidal and cerebellar function scales, assessment of serum cholestanol and TMS. Nine patients who started CDCA therapy at baseline received clinical and neurophysiological follow up. All patients showed signs of pyramidal damage which were relevant for clinical disability in 18 out of 24 cases (75%), resulting in spastic paraparesis. TMS revealed corticospinal alterations even in subjects with mild clinical signs of corticospinal tract involvement. After CDCA treatment, serum cholestanol decreased to normal concentrations in all patients. Clinical picture was unchanged in seven out of nine cases; in two others pyramidal signs disappeared. A reduction in abnormal neurophysiological parameters was found. Spastic paraparesis is the most frequent and relevant neurological feature in CTX patients. Replacement treatment with CDCA can prevent the progression of pyramidal damage, especially if started early in the course of the disease. TMS represents a sensitive indicator of corticospinal tract dysfunction and subclinical improvements in pyramidal function after CDCA therapy.     

Diffusion-weighted imaging abnormalities in the corpus callosum after neonatal seizure: a case report

We report a patient with a neonatal seizure in whom diffusion-weighted imaging (DWI) at 8 days of age revealed high-intensity areas in the genu and splenium of the corpus callosum. The patient was a 2-day-old girl born at 39 weeks of gestational age. No apparent signs of asphyxia were found at birth. Clinically, she had a clonic seizure of the left hemisphere, with open eyes deviating to the left, and automatism around the mouth. The antiepileptic drug phenobarbital was administered once, her seizure was simultaneously stopped. Because she was a newborn, her corpus callosum was not completely myelinated. Intramyelinic edema was not responsible for these DWI findings; the mechanism of the abnormal DWI findings was clearly unknown. Here, we present abnormal DWI findings in the corpus callosum in a neonatal seizure case that did not meet all the criteria for neonatal hypoxic-ischemic encephalopathy (HIE).     

Ethylmalonic encephalopathy. Another patient from Kuwait

We report a Kuwaiti girl with ethylmalonic encephalopathy. She presented at the age of 4 months with chronic mucoid diarrhea and delayed psychomotor development, and at 6 months she developed myoclonic epilepsy. She was found to have central hypotonia with pyramidal tract signs, acrocyanosis, and petechiae. Plasma lactate level was elevated. Blood spot and urine for organic acids results were consistent with the diagnosis of ethylmalonic encephalopathy. Cerebral MRI showed basal ganglia and white matter changes. Gene mutation study revealed homozygous deletion of exon 4 of the ETHE1 gene. The patient died at 14 months after extensive bronchopneumonia. Our objective is to alert physicians to the existence of such a devastating disease in our community and their role in the early diagnosis in the index patient for proper genetic counseling.     

Non-Hodgkin's lymphoma of the uterus and CNS

We report a case of a non-Hodgkin's lymphoma of the uterus and central nervous system in an 8-year-old female. The neurologic signs included blurred vision, neck stiffness, and walking difficulties but no abdominal problems. She deteriorated further, and repeated lumbar punctures revealed the presence of malignant cells in the cerebrospinal fluid. A repeated ultrasound scan of the abdomen demonstrated a markedly enlarged uterus. Biopsy revealed B-cell non-Hodgkin's lymphoma. Treatment according to the Berlin-Frankfurt-Münster protocol was initiated, but she developed hyperventilation syndrome and required mechanical ventilation. Her condition improved after 1 week but then deteriorated again, and despite additional chemotherapy she developed myelosuppression and septicemia with multiresistant Klebsiella pneumoniae and eventually died 13 months after her first admission to the hospital. No clinical or laboratory signs of relapse were evident at the time of death.     

Constant and severe involvement of Betz cells in corticobasal degeneration is not consistent with pyramidal signs: a clinicopathological study of ten autopsy cases

This report concerns a clinicopathological study of three additional patients with corticobasal degeneration (CBD), described here for the first time, and a clinicopathological correlation between pyramidal signs and upper motor neuron involvement, in ten autopsy cases of CBD, including seven cases reported by us previously. We investigated pyramidal signs, including hyperreflexia, Babinski sign, and spasticity, and involvement of the primary motor cortex and pyramidal tract, focusing on the astrocytosis of the fifth layer of the primary motor cortex. Pyramidal signs were observed in six (60%) of the ten cases. Hyperreflexia was evident in six patients (60%), with spasticity being observed in three patients (30%). Loss of Betz cells associated with prominent astrocytosis and presence of ballooned neurons in the fifth layer of the primary motor cortex was observed in all ten cases. In all cases, involvement of the pyramidal tract was obvious in the medulla oblongata, without involvement of the pyramidal tract in the midbrain. Constant and severe involvement of the fifth layer of the primary motor cortex, including the Betz cells, has not previously been reported in CBD. We suggest that the pyramidal signs in CBD have been disregarded.