Akinetic mutism: a report of three cases

Objectives – To report 3 new cases of akinetic mutism, a clinical syndrome defined by silent immobility with preserved visual alertness not accountable by lesion of the areas and/or effector pathways of speech and voluntary movements. Material and methods – Anatomopathological studies were performed in Cases 1 and 2; clinical follow-up, EEG, angiography and CT scans in Case 3. Results – Case 1: Bipallidal necrosis; Case 2: Left pallidal necrosis with right frontoparietal cortico-subcortical infarction; Case 3: Striato-capsular infarction on the left side, involving the caudate nucleus and the anterior arm of the internal capsule, together with obstructive hydrocephalus. Conclusion – The roles of both globus pallidus and prefrontostriatal circuits in the onset of voluntary movements are discussed.     

Akinetic mutism caused by bilateral infiltration of the fornix in a patient with astrocytoma

In a 59-year-old female patient, a World Health Organization (WHO) grade II astrocytoma had been diagnosed 16 years ago, which finally progressed into WHO grade III. Several right frontal neurosurgical resections, local radiation and a local radioimplant had been applied. Despite this long record, she was reported alert with a Karnofsky index of 90% until admission. Within a few weeks she rapidly developed akinetic mutism. Upon admission, computed tomography (CT) scan showed a large cystic right frontal defect and a suggested small tumor recurrence. White matter of the frontal lobe appeared to be translucent and compatible with previous radiation. The severe mental changes were initially attributed to a delayed radiation encephalopathy. Neuropathologically, the white matter of the frontal lobe showed mild elevated cell density consistent with gliosis; however, a tumor recurrence invading the tip of the corpus callosum and invading the entire length both fornices appeared. From the neuropathological findings of massive local tumor recurrence in both fornices, together with the acute clinical onset, it seems unlikely that the sequel of radiotherapy caused akinetic mutism, but the symmetric and severe involvement of the limbic system. We conclude that the rapid progression from a state of alertness to a full clinical picture of akinetic mutism was because of infiltration of both fornices.     

Leukoencephalopathy and Akinetic Mutism in a Married Couple: A Probable Association with Oriental Medicine

Background

Oriental medicines have been associated with severe psychiatric, neurological, and other adverse medical events. These medicines occasionally cause a typical reversible toxic encephalopathy, but most such cases are not recognized because these adverse events are complex and are associated with other systemic signs and symptoms.

Case Report

We describe a married couple with rapid progressive cognitive impairment and akinetic mutism after taking the same oriental medicines on the same day. Brain magnetic resonance images of the couple showed typical leukoencephalopathy in the periventricular white matter and basal ganglia regions, bilaterally.

Conclusions

The development of neurobehavioral symptoms and toxic leukoencephalopathy in both patients following the ingestion of oriental medicines is suggestive of a cause-and-effect association, although such a relationship needs to be verified.     

Clinical changes and EEG patterns preceding the onset of periodic sharp complexes in Creutzfeldt — Jakob disease

The conversion of EEG findings and the evolution of clinical signs was investigated in 7 CJD patients who underwent serial EEG recordings along the course. At the onset of PSWC (mean 8.7 weeks), 5 patients had already progressed to akinetic mutism (characterized by loss of verbal contact and directed responses); and a CJD-typical-movement disorder (myoclonia, exaggerated startle reaction or focal dyskinesia) had started in 5 patients. When akinetic mutism commenced (on average at 7.5 weeks), runs of frontal intermittent non-peaked rhythmical delta activity (FIRDA) were found in all cases. These were later replaced by PSWC in 6 patients (interval 1 to 3 weeks). Occurrence of PSWC was often negatively related to external stimuli (2 of 6 cases), and sedative medication (all patients tested). We conclude that the selection of EEG recording dates to detect PSWC in CJD-candidates should be guided by detailed information about movement disorders and conscious level. Regarding the short survival time after their onset (average 8 weeks), PSWC usually mark the terminal stage of CJD. To detect PSWC, especially, EEG registrations in advanced stages are often necessary. In earlier disease stages, FIRDA-like EEG activities should be regarded as compatible with this diagnosis, and encourage further EEG studies for the demonstration of PSWC in a more advanced stage of CJD.     

Neuropathology in seven cases of locked-in syndrome

The neuropathology of 7 cases of the locked-in syndrome has been reviewed and compared with 3 cases of akinetic mutism, all of them occurring after brainstem vascular disease (9 infarctions, 1 hematoma). Including other published cases of verified locked-in syndrome, the extent of lesions has been studied in order to understand, among other symptoms, the preservation of consciousness, voluntary eye movements, auditory comprehension and vital functions. It is concluded that, at the time of autopsy, although most of the clinical signs can be explained by the pathological findings, it is not yet possible to individualize specific brainstem lesions responsible for this syndrome.     

An autopsy case of Creutzfeldt‐Jakob disease with a prion protein gene codon 180 mutation presenting with pathological laughing and an exaggerated startle reaction

A 78‐year‐old Japanese woman presented with slow progressive disorientation and memory disturbances. Pathological laughing was observed at an early disease stage and continued for several months. Around the same time, the patient began to exhibit an exaggerated startle reaction and mild myoclonus. The pathological laughing and startle reaction disappeared before the patient reached an akinetic mutism state approximately 16 months after symptom onset. MRI showed extensive hyperintensity of the cerebral cortex and striatum on diffusion‐weighted images, and swelling in the cerebral cortex on T2‐weighted and fluid attenuated inversion recovery images. A prion protein (PrP) gene analysis revealed a V180I mutation with methionine homozygosity at codon 129. Neuropathological examination showed extensive spongiform changes with characteristic various‐sized and non‐confluent (VaSNoC) vacuoles in the cerebral neocortex and striatum. Gliosis and hypertrophic astrocytosis were generally mild in character. Neurons were relatively preserved in number. We believe that pathological laughing and an exaggerated startle reaction are possible pathognomonic findings of V180I genetic Creutzfeldt‐Jakob disease. Based on the pathological findings of the present case, the presence of the VaSNoC‐type spongiform changes with relative preservation of the neurons in the cerebral cortex and a lack of apparent brainstem involvement are associated at least in part with the pathological laughing and startle reaction.     

Non-traumatic ischaemic myelopathy: a review of 25 cases

The causes of ischaemic myelopathy are described in 25 patients. Nine developed following surgical manipulation or traumatic laceration of the aorta, 1 following intercostal artery ligation, 3 following aortic aneurysm dissection, 2 following myocardial infarction and/or cardiac arrest, 7 in the absence of any specifically identifiable predisposing factors, and 3 in association with decompression sickness. The degree of clinical recovery was greater among those with incomplete spastic (as opposed to complete flaccid) paralysis and among those in whom sensory loss below the level of injury was incomplete. Despite the diversity of mechanisms that may lead to the development of spinal cord ischaemia, structural damage seems in most instances to affect either grey matter or white matter predominantly. Some of the possible reasons for these preferential sites of damage are discussed.     

Presence of Klùver-Bucy syndrome as a positive prognostic feature for the remission of traumatic prolonged disturbances of consciousness

After severe brain injury a prolonged disturbance of consciousness may occur, sometimes with transient apallic syndrome (awakening without awareness of self and surroundings). Klùver-Bucy is described in the literature as a typical post-traumatic remission phase, in which the patients show an increase of oral automatisms and/or of sexual drive. The study describes Klùver-Bucy syndrome as a sign associated with favourable prognosis in the outcome of traumatic disturbances of consciousness in survivors of head trauma. Seventy-seven patients who had suffered severe brain injury due to traffic accidents entered into the study. All had experienced a relatively benign clinical course since they recovered full awareness, that is were able to communicate with their relatives. The occurrence of prolonged coma, of apallic syndrome and of Klùver-Bucy syndrome are related to outcome date in regards to the patient's work and family function at a mean of 32 months later. In particular, the duration of the apallic syndrome (duration of unconsciousness) was significantly correlated with the global outcome of the patients (p < 0.001).     

Survival to akinetic mutism state in Japanese cases of MM1‐type sporadic Creutzfeldt–Jakob disease is similar to Caucasians

Background: It is not known whether the clinical course of Japanese sporadic Creutzfeldt–Jakob disease (sCJD) cases differs from that of Caucasian sCJD cases. Patients and methods: To investigate the clinical course of Japanese sCJD, clinical findings from 29 patients with Japanese MM1‐type sCJD were retrospectively evaluated and compared to Caucasian sCJD findings. Results: Survival of Japanese MM1‐type sCJD up to the time of akinetic mutism state is similar to that of Caucasian subjects. However, the total disease duration of Japanese patients was approximately three times longer. Conclusions: The present observations indicate that Japanese sCJD cases generally show a longer disease duration because of the longer survival period after reaching the akinetic mutism state.     

Prevalence of persistent vegetative state/apallic syndrome in Vienna

The aim of the project was to survey the hospital prevalence of apallic syndrome in a federal state in Austria at an exact point in time. To achieve this, a point prevalence study was carried out on 28 November 2001 in the Vienna region. The central element was a questionnaire, which provided an exact recording of the patients' condition. An additional preliminary task was to check all the discharge diagnoses in the hospitals of the Vienna Hospital Association (Wiener Krankenanstalten Verbund) between 1996 and 2000 according to the ICD-9 diagnoses for apallic syndrome. These data should serve to cross-check the recorded results. All hospitals (n = 48) and nursing facilities (n = 44) in Vienna were included in this investigation. As the aim of the study was to record the prevalence of apallic syndrome in the population of Vienna, four patients of the group with full-stage apallic syndrome (n = 36) were excluded as they were from other federal states. In total, 32 hospital patients who met the clinical criteria for apallic syndrome (full-stage) were recorded. The point prevalence of apallic syndrome was 1.9/100,000 inhabitants. As a result of this study, the exact survey of hospital prevalence of apallic syndrome could be found. As a consequence, the Viennese government has developed a rehabilitation concept for patients with apallic syndrome in Vienna.     

Two Autopsied Cases of Familial Sudanophilic Leukodystrophy

Abstract: Two autopsied female sibling cases of sudanophilic leukodystrophy are reported. Case A and case B were the second and third of seven siblings, and a sister and a brother died from severe progressive neurological disease with similar symptoms. Consanguineous marriages were noted in the family of both cases through the past three generations. Case A gradually developed intellectual deterioration and tetraplegia at the age of 29, progressed to akinetic mutism within one year and thereafter survived for 14 years. Neuropathologically, a severe atrophy and degeneration were noted in the white matter of the whole cerebrum, sparing the subcortical U-fibers. Myelin and axons were severely damaged with peripheral astrocytic gliosis. Case B developed similar clinical symptoms at the age of 20 and survived for 7 years in the state of akinetic mutism. Similar postmortem findings as those of case A were found in the white matter of the cerebrum with formation of sudanophilic breakdown products and with thick fibrillary gliosis. The pyramidal tract was completely degenerated. There was no accumulation of abnormal lipid in the brains of both cases.     

An autopsied case of V180I Creutzfeldt‐Jakob disease presenting with panencephalopathic‐type pathology and a characteristic prion protein type

A 73‐year‐old Japanese woman showed slowly progressive aphasia, apraxia and dementia. She had no family history of prion disease or dementia. One year later she showed parkinsonism and corticobasal degeneration was initially suspected. On MRI, the left temporal neocortex seemed swollen on T2‐weighted images in the initial stage, and a later high‐signal intensity region was observed in the cerebral cortex in diffusion‐weighted images. The patient developed myoclonus and an akinetic mutism state 15 months and 22 months after onset, respectively. Consecutive electroencephalography revealed no periodic sharp‐wave complexes. Prion protein (PrP) gene analysis revealed a valine to isoleucine point mutation at codon 180, and methionine homozygosity at codon 129. This patient's clinical symptoms and disease course were atypical for Creutzfeldt–Jakob disease (CJD), and a stable state with nasal tube‐feeding lasted several years. She died of respiratory failure at the age of 81, 102 months after the onset. Autopsy revealed widespread spongiform degeneration with weak synaptic‐type PrP deposition, confirming the diagnosis of genetic CJD. Neurons in the cerebral cortex were relatively preserved in number and hypertrophic astrocytosis was generally moderate for such long‐term disease, but cerebral white matter showed diffuse severe myelin pallor with tissue rarefaction suggestive of panencephalopatic‐type pathology. The cerebellar cortex was relatively well preserved with observation of mild spongiform change in the molecular layer, moderate neuron loss in the Purkinje neuron layer, and scattered small plaque‐like PrP deposition. Western blot analysis of protease‐resistant PrP showed a characteristic pattern without a diglycoform band. V180I CJD is an interesting form of genetic CJD with regards to the clinicopathologic, molecular and genetic findings.     

DSM-IV catatonic features among psychiatric inpatients: a preliminary study

We studied DSM-IV catatonic features in 120 psychiatric inpatients with a main diagnosis of acute psychotic, affective or cognitive disorder. Individual catatonic features were highly intercorrelated, although diagnostically nonspecific. A single factor, accounting for 85% of the variance, was extracted and interpreted as representing both types (excited and retarded) of catatonic syndrome.     

Overcoming mutism in adults with learning disabilities: a case study

The literature review looks at the range of studies on people with selective mutism, with special emphasis on the field of learning disabilities. It finds three particular references ( Labbe & Williamson 1984 ; Paniagua & Saeed 1988 ; Cline & Baldwin 1994b ) that may be particularly pertinent to those people who appear to reduce their speech progressively over time in terms of both quantity of utterances and also who reduce the number of people to whom they will speak. This paper then considers the case of a woman of 36 years of age with Down's syndrome who had shown selective mutism for over 14 years, although this had become almost complete mutism for the last 8 years. The case was assessed and the woman was asked if she would be willing to participate in an attempt to reinforce communication and to gradually increase the number of words whispered or spoken in the presence of one person at first – the first author. Nonaversive behavioural methods were used and response initiation procedures were developed. Later, generalization of vocalizations to other people in other environments was encouraged. Sessions were carried out three times a week for about 2 months with rapid success. The woman's quality of life at home and her social interactions at the resource centre were also reported to have improved.     

复发性Fisher-Bickerstaff综合征2例临床分析

目的探讨复发性Fisher综合征(FS)叠加Bickerstaff脑干脑炎(BBE)的临床特点和疾病命名。方法分析2例复发性Fisher-Bickerstaff综合征的患者的临床资料,并复习相关文献。结果例1表现为复发性睡眠增多、走路不稳、视物成双,肌电图检查提示下肢神经源性损害;例2表现为复发性视物成双、走路不稳,第2次发病出现四肢无力,查体双下肢远端肌力3级,双侧Babinski征阳性,肌电图提示四肢神经源性损害;2例患者除具有眼肌麻痹和共济失调的症状外,都有中枢和周围神经受损的表现;依据患者的病史、查体、临床检测和疾病经过,诊断为复发性Fisher-Bickerstaff综合征,第2例患者叠加吉兰-巴雷综合征。结论具有周围神经损害的BBE和具有中枢神经损害的FS从临床表型上不能截然分开,Fisher-Bickerstaff综合征的概念更能准确地表述这类患者的表型特点。     

Sarcoglycanopathies: a report of 25 cases

Twenty five patients with sarcoglycanopathies were studied prospectively. 21 of them had mild phenotype. Muscle involvement was more pronounced in adductor and flexor groups of muscles of the limbs, hip adductor muscles being the weakest. The selective and differential weakness between weak hip adductors and stronger hip abductors resulted in the hip abduction sign in 64% of cases. Distal muscle involvement in lower limbs was seen in 92% of cases, but was mild and late in the course of the disease. 44% patients had winging of scapulae. Immunocytochemistry showed multiple sarcoglycan deficiencies in 84% patients. Primary beta and delta sarcoglycanopathy was seen in the remaining 16% cases. Secondary dystrophin reduction was seen in 44% patients and correlated with beta sarcoglycan deficiency but not with functional disability.     

Aicardi syndrome. Report of 6 cases and a review of Japanese literature

This report presents 6 cases of Aicardi syndrome (infantile spasms, agenesis of the corpus callosum, chorioretinopathy), and a review of Japanese literature. Two patients developed Lennox-Gastaut syndrome following infantile spasms. Visual evoked potential was examined in every case with binocular and monocular flash stimulations. Normal response was obtained in 5 cases, and no response in 1. Auditory brainstem response was examined in 2 cases. Central conduction time was prolonged in 1 case.