Learning and retention of a daily activity schedule in a patient with alcoholic Korsakoff's syndrome

Abstract

This study examined the ability of a memory-impaired patient with alcoholic Korsakoff's syndrome to learn and retain a schedule of daily activities. A letter-fragment cueing method was used as a teaching technique. Despite evidence of severe frontal lobe deficits and high levels of anxiety the patient showed a strong learning effect relative to baseline. In addition, considerable retention after termination of training was evident. When the activity schedule was altered, the patient learned the new information without direct training. Results are discussed in terms of the reported rigidity of domain-specific learning, the influence of mood states, and the spontaneous use of memory techniques.     

Clinical and imaging perspective and unanswered questions in a case of metronidazole induced encephalopathy

We discuss the clinical and imaging perspective in a case of a 78-year-old male who developed slurring of speech and ataxia acute in onset for the last 3 days. During his hospital stay, he developed multiple episodes of focal seizures without secondary generalization involving the angle of mouth on the right side. The patient had ataxia and positive cerebellar signs. In the past, the patient was treated for amoebic liver abscess and had undergone percutaneous aspiration of abscess. The patient was prescribed oral metronidazole and was discharged. This time, the patient underwent magnetic resonance imaging examination, which revealed lesion highly suggestive of metronidazole-induced encephalopathy. The offending drug was discontinued immediately after which the patient improved clinically. A follow-up scan was performed after 12 days and showed complete resolution of lesions.Key Words: Diffusion-weighted imaging, fluid-attenuated inversion-recovery, metronidazole-induced encephalopathy, magnetic resonance imaging     

Ethical and Legal Considerations in the Management of an Unbefriended Patient in a Vegetative State

Background

Patients without surrogates are referred to as “unbefriended.” Because these patients do not have representatives to assist with medical decision-making, patient autonomy and self-determination, fundamental concepts of American healthcare, are jeopardized.

Methods

We present a case of an unbefriended patient in a vegetative state and discuss the ethical and legal complications associated with management of unbefriended patients.

Results

An unbefriended patient was admitted to our hospital with a cardiac arrest in the setting of an intracerebral hemorrhage. Despite aggressive medical and surgical management, he suffered significant brain injury and was in a vegetative state. In our state, unless an unbefriended patient will imminently die despite medical therapy, all measures must be taken to prolong the patient’s life, so a tracheostomy and feeding tube were placed and he was transferred to a long-term care facility. The process for making decisions on behalf of unbefriended patients is complicated and varies throughout the country. Some potential ways to avoid these complex situations include: early conversations about treatment wishes while patients have capacity, mandatory advance directives, and increased training and reimbursement for physicians to proactively have end-of-life discussions.

Conclusion

The unbefriended are one of the most high-risk patient groups. Because our patient had no surrogate with whom we could have a goals-of-care discussion, we were obligated to continue aggressive management despite knowing it would prolong, but not improve, his life. Proactive preventative measures to identify and document end-of-life wishes may make management of these patients less ethically and legally complicated.

     

Pigmented ganglioglioma in a patient with chronic epilepsy and cortical dysplasia

We report a rare case of a 22-year-old woman with biopsy-proven pigmented ganglioglioma. The patient initially underwent a right temporal lobectomy for intractable seizures at the age of 9 and remained seizure free for several years but subsequently developed complex partial seizures. Due to enhancement of a left mesial occipital lesion on preoperative MRI of the brain, the patient underwent a left subdural electrode placement and simultaneous biopsy of the left mesial occipital lesion. Biopsy results revealed a rare pigmented ganglioglioma, World Health Organization Grade I. The seizure focus was identified in the left mesial occipital lobe and the patient underwent tumor resection. An extensive literature search revealed that our patient is the fourth case of pigmented ganglioglioma described in the literature and was positive for BRAF V600E mutation by molecular studies.     

Sealing-over in a Therapeutic Community

INTEGRATING and sealing-over are terms that are frequently used to describe a patient’s general style of coping with stress, especially the stress of an acute psychotic break. Work to date (McGlashan et al., 1975, 1976, in press; Levy et al., 1975) has defined these terms both clinically and dynamically within the context of a patient’s relationship to his own psychosis. Integration and sealingover as concepts have also proved useful in understanding and describing interpersonal and group behavior on an inpatient psychiatric unit.

A patient’s ultimate style of recovery from an acute psychotic episode results from many forces-internal and environmental. The tendency to either review and assimilate (integrate) or deny and repudiate (seal-over) the often painful affects and ideas prominent during psychosis mobilizes various forces within the patient’s social environment. The way in which the therapeutic milieu and patient interact with one another reflects and, in part, determines the manner and degree to which each party comes to master the patient’s psychotic experience. This report explores this interaction as observed in an inpatient therapeutic community established to treat acutely schizophrenic patients.     

Cerebral polyopia and palinopsia in a patient with occipital lobe epilepsy

Polyopia is the visual perception of multiple images even after removal of an object from the visual field. The appearance of many of the same images while watching a single object is called palinopsia, which is a phenomenon distinct from polyopia. Different types of these phenomena have been ascribed to latency of perseveration, but direct evidence is lacking. We describe a patient with occipital lobe epilepsy who presented with both polyopia and palinopsia. We found that visual perseveration was related to the extent of movement of the original object and that the shape of the object changed in response to stimulation with another object. Palinopsia after the visual stimulus can be superimposed on the background picture, leading to polyopia. That polyopia and palinopsia are distinct phenomena is correct, but they seemed to be related. Both phenomena occurred in the same patient and share an epileptic mechanism. In our patient, visual perseveration was part of an epileptic aura, developed when either the object or the patient moved, and diminished with gabapentin.     

PET and SPECT in whiplash syndrome: a new approach to a forgotten brain?

Whiplash associated disorders are a medicolegally controversialcondition becoming increasingly worrisome in the western world. Thisstudy was designed to evaluate perfusion and glucose metabolism inwhiplash brain. Using Tc-99m-bicisate (ECD) single photon emission computed tomography (SPECT) and F-18-fluorodeoxyglucose (FDG) PET,six clinically and neuropsychologically controlled patients (patientgroup) with whiplash syndrome and 12 normal controls (control group)were investigated. Standardised elliptical regions of interest (ROIs)were determined in three adjacent transaxial slices in the frontal,parietal, temporal, and parieto-occipital cortex, cerebellum, brainstem, basal ganglia, and thalamus. For PET, the glucose metabolic index(GMI; =ROI uptake/global uptake at the level of the basal ganglia) and,for SPECT, the perfusion index (PI; =ROI/global) were calculated. Inthe patient group there was significant hypometabolism andhypoperfusion in the parieto-occipital regions (on the right (R) andleft (L) side) compared with the control group: PET data: GMIparieto-occipital R: control 1.066 (0.081) (mean (SD)), patient 0.946 (0.065); P=0.0092, Mann Whitney. GMI parieto-occipital L: control 1.034 (0.051), patient 0.922 (0.073); p=0.0067. SPECT data: PIparieto-occipital R: control 1.262 (0.066), patient 1.102 (0.063);P=0.0039. PI parieto-occipital L: control 1.226 (0.095), patient 1.098 (0.075); P=0.0273. In some patients there was hypometabolism (>2 SD of control) in regions other than the parieto-occipital region. It ishypothesised that parieto-occipital hypometabolism may be caused byactivation of nociceptive afferent nerves from the upper cervical spine.

     

Taste and olfactory status in a gourmand with a right amygdala lesion

In a patient with a lesion of the right amygdala and temporal pole who had the characteristics of the gourmand syndrome, sensory and hedonic testing was performed to examine the processing of taste, olfactory, and some emotional stimuli. The gourmand syndrome describes a preoccupation with food and a preference for fine eating and is associated with right anterior lesions. It was found that the taste thresholds for sweet, salt, bitter, and sour were normal; that the patient did not dislike the taste of salt (NaCl) at low and moderate concentrations as much as age-matched controls; that this also occurred for monosodium glutamate (MSG); that there were some olfactory differences from normal controls; and that there was a marked reduction in the ability to detect face expressions of disgust.     

Machado-Joseph disease/SCA3 and myotonic dystrophy type 1 in a single patient

We report here, for the first time, the case of a 41-year-old man with both Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) and myotonic dystrophy type 1. The patient noted dysarthria at 14 years of age and unsteady gait at 30 years of age. Similar sized expansions of the CAG trinucleotide repeats in one allele of the ataxin-3 (ATXN3) gene were found in both the patient and his father, although in the other allele the length of the CAG repeats was shorter in the father compared with the patient. In the dystrophia myotonica protein kinase (DMPK) gene the CTG repeats were much more expanded in the patient compared with his father. Thus it is possible that, in the farther, the short CAG repeat in the non-expanded ATXN3 allele delayed the onset of cerebellar symptoms, and/or that the expanded CTG repeat in the DMPK gene in the patient accelerated the pathogenesis of MJD/SCA3.     

Somatosensory evoked potentials in a patient with a cervical glioma and syrinx

Short-latency somatosensory evoked potentials (SSEPs) were obtained in a 61-year-old patient with a cervical spinal cord glioma extending from C3 to C7. SSEPs in response to tibial nerve stimulation were normal; however, all components of the median nerve responses were markedly abnormal bilaterally (except for normal brachial plexus responses). This selective abnormality of median nerve SSEPs has not been reported previously in a patient with cervical cord tumor associated with a syrinx and illustrates the use of the SSEP in the anatomical localization of the lesion.     

No impairment of recognition and experience of disgust in a patient with a right-hemispheric lesion of the insula and basal ganglia

An influential single case study (Calder, Keane, Manes, Antoun, & Young, 2000, Nature Neuroscience, 3, 1077-1078) recently showed a marked multimodal impairment in the recognition and experience of disgust in a patient with a left-hemispheric lesion of the basal ganglia and the insular cortex. Here, we investigated whether a similar deficit will be observed in a patient with a comparable lesion of the insula and basal ganglia in the right hemisphere. Remarkably, the patient showed no impairments in the recognition or experience of disgust and also no notable impairments in the recognition and experience of other emotions, across a range of stimuli, as compared to healthy comparison subjects. Thus, either deficits in disgust processing are not reliably observed in patients with lesion of the insula and basal ganglia regardless of the laterality of the lesion; or right-hemispheric lesions, in contrast to left-hemispheric lesions, do not seem to induce impairments in the processing of disgust.     

Fully integrated in- and out-patient services in a psychiatric sector

Summary A new model of psychiatric care, implying a complete integration of out-patient and in-patient activities, has been recently implemented in the Umea psychiatric sector in Northern Sweden. The model implies that all personnel linked with a sector work in the wards, at the out-patient clinic, and in the community irrespective of professional category. Such a model has many advantages. It allows for quick intervention when a patient is in need of care, permits continuity of care in the sense that the patient is seen by the same people both when an outpatient and when in hospital, assigns every patient to the most appropriate level of care, and contributes to a sizeable reduction in the number of admissions.     

Severe degenerative cortical and cerebellar atrophy and progressive dementia in a young adult

Abstract

A 32-year-old patient is described who presented with severe cognitive deficits and major cortical and cerebellar atrophy. Investigations included numerous clinical laboratory tests, magnetic resonance imaging, [¹⁸F]2-fluoro-2-deoxy-D-glucose positron emission tomography and detailed neuropsychological examinations. Tests covered mood, intelligence, attention and concentration, language, verbal fluency, various memory abilities, and cognitive flexibility. Furthermore, some experimental testing procedures were applied, such as drawing objects, and transcoding verbal and Arabic numerals. Laboratory findings failed to give any indication for viral, bacterial, genetic or metabolic diseases, or for chronic intoxication. In particular, no presenilin genes were found. Neuroradiology revealed very severe cortical and less severe cerebellar degeneration. In most neuropsychological tests, the patient was greatly impaired. In spite of some inconsistencies at the anatomical and cognitive levels, it is concluded that, in spite of his young age, the patient suffered from an unusual from of Alzheimer's disease.     

Endovascular treatment of post-pharyngitis internal carotid artery pseudoaneurysm with a covered stent in a child: a case report

Case report

We report a case of 4-year-old boy patient, who developed after a streptococcal pharyngitis a painful, pulsatile, and growing right-sided mass in the neck. Imaging studies revealed an extracranial right internal carotid artery pseudoaneurysm. The patient was successfully treated with stent-graft deployment. After 18 months of follow-up, the pseudoaneurysm is excluded from the circulation, the carotid artery is patent, and the patient is free from any neurological deficit.

Discussion

Covered stents might be considered as a valid therapeutic option to treat carotid artery pseudoaneurysms.     

Challenges in managing a mother with a dual diagnosis of peripartum cardiomyopathy and paranoid schizophrenia — a case report

Introduction

Psychotic illness has a low incidence in the puerperal period. Peripartum cardiomyopathy as a complication of pregnancy is also rare.

Clinical case

We report a case where the above two conditions occurred simultaneously in a patient and posed significant difficulties in the clinical management. She was diagnosed as having paranoid schizophrenia and peripartum cardiomyopathy. Many of the antipsychotics were contraindicated, and electroconvulsive therapy could not be administered due to the added risks involved with regard to anesthesia. She was therefore managed with clonazepam and olanzapine.

Discussion

This case highlights the challenges in a patient with a psychiatric illness presenting with comorbid physical illness.     

Contrapositioning in a case of visual neglect

Abstract

We describe a series of drawing/copying impairments in a patient with left neglect consequent upon right hemisphere damage. The patient bisects lines significantly to the right of true centre and omits stimuli located on the contralesional side of cancellation tasks. Some of her copies, however, also contain errors whereby elements from left space are transposed to positions in right-sided space. Providing the patient with verbally encoded spatial information appears to facilitate this process. The phenomenon is interpreted against a background of earlier studies of visual allesthesia and current theories of propositional and analogical representation.     

Defect in fatty acid oxidation: laboratory and pathologic findings in a patient

The clinical, laboratory, and pathologic findings in a patient with a previously undescribed deficiency in fatty acid oxidation are summarized. The patient had a fatal defect in fatty acid metabolism profoundly affecting heart, skeletal muscle, liver, and kidney. Oxidation of palmitate was 38-51% of controls. Complementation assays demonstrated that the patient's fibroblasts complemented fibroblast lines from all known defects in fatty acid oxidation except long-chain acyl-CoA dehydrogenase deficiency. Urine and serum carnitine profiles also were indicative of a defect in the oxidation of long-chain substrate; however, the palmitoyl-CoA dehydrogenase activity was actually increased. This finding indicates that the patient had a defect that was distinct from, but possibly related to, long-chain acyl-CoA dehydrogenase deficiency. This patient demonstrates the laboratory and pathologic findings in defects in fatty acid oxidation and how they differ from those in Reye syndrome.     

Variant Ataxia Telangiectasia: Clinical and Molecular Findings and Evaluation of Radiosensitive Phenotypes in a Patient and Relatives

Variant ataxia telangiectasia (A-T) may be an underdiagnosed entity. We correlate data from radiosensitivity and kinase assays with clinical and molecular data from a patient with variant A-T and relatives. The coding region of ATM was sequenced. To evaluate the functional effect of the mutations, we performed kinase assays and developed a novel S-G2 micronucleus test. Our patient presented with mild dystonia, moderately dysarthric speech, increased serum α-fetoprotein but no ataxia nor telangiectasias, no nystagmus or oculomotor dyspraxia. She has a severe IgA deficiency, but does not have recurrent infections. She is compound heterozygote for ATM c.8122G>A (p.Asp2708Asn) and c.8851-1G>T, leading to in frame loss of 63 nucleotides at the cDNA level. A trace amount of ATM protein is translated from both alleles. Residual kinase activity is derived only from the p.Asp2708Asn allele. The conventional G0 micronucleus test, based on irradiation of resting lymphocytes, revealed a radiosensitive phenotype for the patient, but not for the heterozygous relatives. As ATM is involved in homologous recombination and G2/M cell cycle checkpoint, we optimized an S-G2 micronucleus assay, allowing to evaluate micronuclei in lymphocytes irradiated in the S and G2 phases. This test showed increased radiosensitivity for both the patient and the heterozygous carriers. Intriguingly, heterozygous carriers of c.8851-1G>T (mutation associated with absence of kinase activity) showed a stronger radiosensitive phenotype with this assay than heterozygous carriers of p.Asp2708Asn (mutation associated with residual kinase activity). The modified S-G2 micronucleus assay provided phenotypic insight into complement the diagnosis of this atypical A-T patient.     

Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report

IntroductionPathogenic truncating variants in SMC1A, which is located on chromosome Xp11.2, are known to cause infantile-onset epilepsy and severe intellectual disability in girls. Several studies have reported a correlation between SMC1A truncations and seizure clustering; however, the associated electroencephalogram (EEG) patterns remain largely unknown.Case presentationWe investigated an 12-year-old girl who had developed epilepsy at the age of 4 months. The patient experienced unknown onset, tonic-clonic seizures that occurred in clusters several times a week. Her interictal EEG at the age of 2 years showed paroxysmal, generalized, high-amplitude slow waves, whereas epileptiform discharges were scarce. The patient’s interictal EEG gradually deteriorated; at the age of 11 years, diffuse continuous spike-and-wave discharges were predominantly observed in the left temporal region and were particularly obvious in the awake state. Although the unknown onset, tonic seizures occurring weekly persisted under multiple antiepileptic medications, the patient did not experience seizure clustering since the age of 9 years. Whole-genome sequencing revealed a de novo known nonsense variant in SMC1A (c.2923C > T, p.R975*).ConclusionOur patient presented with a mild abnormality in the interictal EEG during infancy and early childhood despite frequent seizure clustering. Notably, the patient’s EEG findings gradually deteriorated over time, which was inconsistent with the amelioration of seizure clustering.     

Cognitive neuropsychological analysis of differential reading and spelling disorder mechanisms in a patient with aphasia

ABSTRACT

The purpose of this study was to determine if differential reading and spelling mechanisms were involved in a Japanese patient with aphasia. In our case, the patient scored low on all of the administered reading tasks, suggesting that both the reading lexical and non-lexical routes were impaired. In contrast, his writing-to-dictation score for Kana nonwords was high, suggesting that the spelling non-lexical route was intact. However, the patient scored low on a writing-to-dictation task comprised of high-familiarity Kanji words. The spelling lexical route was thought to be impaired. Therefore, the mechanism(s) involved in reading and spelling may differ in this case.