Severe dysautonomia revealing Wernicke's encephalopathy

Introduction

Wernicke's encephalopathy, a pathology caused by vitamin B1 (thiamin) deficiency, is often difficult to diagnose and can lead to severe cognitive sequels if left untreated.

Case report

We report the case of a 42-year-old HIV-positive women who, four days after recurrent episodes of vomiting, developed severe dysautonomia and symptoms suggestive of Wernicke's encephalopathy. Treatment with parenteral thiamine induced dramatic improvement within a few days.

Conclusion

This case report highlights an unusual presentation of symptomatic thiamin deficiency associating severe dysautonomia with the classical manifestations of Wernicke's encephalopathy. As dysautonomia is frequently the earliest sign of beriberi, this case illustrates the continuum between these two diseases whose cause, symptomatic thiamin deficiency, is the same. It also draws attention to the multiple risk factors that may be associated, leading to symptomatic thiamin deficiency. This deficiency, while often overlooked, is frequent in HIV-infected patients. Finally, this case contributes to the discussion on the possible genetic polymorphism that may make a limited deficiency symptomatic.     

Lithium-induced encephalopathy mimicking Creutzfeldt-Jakob disease

INTRODUCTION: Creutzfeldt-Jakob disease (CJD) has a poor prognosis. Certain clinical presentations can be suggestive yet mimic a curable disease. OBSERVATION: In the present study, we report the case of a 67-year-old man with a one-month history of progressive dementia, with myoclonic jerks and cerebellar syndrome suggesting a diagnosis of Creutzfeldt-Jakob encephalopathy. He had been treated for 9 years with lithium for a bipolar disorder. The results of the different investigations and the favorable course after discontinuation of lithium were in favor of the diagnosis of drug-induced Creutzfeldt-Jakob syndrome. CONCLUSION: This case illustrates the importance for researching a curable etiology in presence of clinical features suggesting a CJD.     

Aicardi-Goutieres syndrome: an oft unrecognised familial early-onset encephalopathy

INTRODUCTION: Aicardi-Goutieres syndrome, first described in 1984, is a progressive infantile familial encephalopathy featuring cerebral calcifications, mainly of the basal ganglia, cerebral white matter abnormalities and cerebrospinal fluid lymphocytosis. Most of the patients present with severe developmental retardation, microcephaly, abnormal eye movements, pyramidal tract signs, and prominent dystonic movements. An elevated level of interferon-alpha in the CSF is a constant feature, particularly during the first stages of the disease course. One locus has been mapped on chromosome 3p21 in about half of the families so far studied. PATIENTS: and results. We report two new French cases and discuss the limits of the clinical syndrome, the differential diagnosis and issues raised by the pathophysiological mechanisms involved. The major concern is to separate this condition from intrauterine infections because of the genetic and therapeutic consequences. A number of other questions remain unanswered. For example, we still do not know today at what age the absence of features like CSF lymphocytosis, and possibly absence of calcifications, rules out the diagnosis of the condition. The origin of the vasculitis lesions is not known, but seems to be related to dysregulation of interferon production and secretion. CONCLUSION: Currently about 75 patients have been reported, even though many more probably exist. The study of this syndrome can contribute to the understanding of some mechanisms of CNS calcification and in a broader perspective to that of chronic encephalopathies with dysregulation of immune mechanisms.     

Clinical prognosis of patients with diagnosed chronic solvent intoxication

The clinical symptoms and signs of 80 patients with chronic organic solvent intoxication were evaluated after 3–9 years (mean 5.8 years) of follow-up. Thirty-one of the patients had slight clinical neurological signs at the time of diagnosis while the rest of the patients had only neurophysiological or psychological disturbances. The most common subjective symptoms were headache, tiredness and memory disturbances. Of the clinical signs, disturbances occurred frequently in cerebellar functions, gait and station and fine motorics. In addition, psycho-organic alteration and neurasthenic signs were often found. After the follow-up clinical signs of impairment in the nervous system were present in 42 cases. At the group level, the subjective symptoms decreased during the follow-up but the objective clinical signs increased and worsened. Only the prognosis of disturbances in gait and station correlated with the duration and intensity of exposure.
The present results emphasize the great difficulties arising in occupational neurology regarding chronic organic solvent intoxications. No clear-cut clinical picture exists and reliable estimation of prognosis in general cannot be made on the basis of the present knowledge.     

Malignant non-Hodgkin lymphoma presenting with Garcin's syndrome

INTRODUCTION: R Garcin described progressive unilateral cranial nerve palsy in 1926. Garcin syndrome is characterized by progressive involvement of the cranial nerves culminating in total unilateral paralysis of all cranial nerves. Carcinoma of the skull base or ENT regions is the most common etiology. CASE REPORT: A 74-year-old man developed signs involving the left Vth (V2 and V3) cranial nerve then the VIth, VIIth and VIIIth cranial nerves and finally the IXth and Xth. MRI showed involvement of these cranial nerves with gadolinium uptake and involvement of the pons at the terminal phase. Careful ENT explorations failed to reveal a cause. The lymphocyte count was elevated in the cerebrospinal fluid. The patient died one year after diagnosis and the general autopsy was normal. The neuropathological studies led to the post-mortem diagnosis of type B non-Hodgkin lymphoma. CONCLUSION: In patients with Garcin syndrome, lymphoma is a possible diagnosis when carcinoma of the ENT regions or of the skull bases are not present.     

Factors associated with nonbenzodiazepine antiepileptic drug intoxication: Analysis of 9,809 registered cases of drug poisoning

Purpose: Antiepileptic drug (AED) intoxications are common due in part to wide clinical application and availability. Because AEDs usually depress central nervous system function, overdosing may be potentially life‐threatening or lead to a range of adverse outcomes. The aim of this study was to identify risk factors for nonbenzodiazepine AED (NBAED) intoxication. Methods: In this cross‐sectional study, all consecutive adult and adolescent (>12 years old) poisoned patients who presented to the Loghman‐Hakim Poison Hospital (LHPH) during a 6‐month period were evaluated. Patients with NBAED intoxication were identified and compared to a control group of those other pharmaceutical intoxications. The risk factors for AED intoxication were identified using univariate analyses and multivariate modeling. Results: Among 9,809 cases of pharmaceutical agent overdose, there were 474 cases (4.8%) with NBAED intoxication. Mean age of the subjects was 24.5 ± 8.9 years. The most frequent NBAED was carbamazepine (n = 117), followed by phenobarbital (n = 77) and sodium valproate (n = 51). The most frequent motivation was intentional intoxication (95.3%). Multivariate analysis revealed that presence of medical disorders, a history of psychological events, and loneliness were associated with AED intoxication, whereas educational level had a protective effect. There was no association between previous history of parasuicide, sex, age, occupation status, and AED intoxication. Discussion: In conclusion, this study showed that the majority of AED intoxications are due to deliberate self poisoning. The presence of psychological events, medical disorders, and loneliness are risk factors for AED intoxication, whereas higher education level has a protective effect.     

Acute encephalopathy associated with influenza and other viral infections

Acute encephalopathy is the most serious complication of pediatric viral infections, such as influenza and exanthem subitum. It occurs worldwide, but is most prevalent in East Asia, and every year several hundreds of Japanese children are affected by influenza-associated encephalopathy. Mortality has recently declined, but is still high. Many survivors are left with motor and intellectual disabilities, and some with epilepsy. This article reviews various syndromes of acute encephalopathy by classifying them into three major categories. The first group caused by metabolic derangement consists of various inherited metabolic disorders and the classical Reye syndrome. Salicylate is a risk factor of the latter condition. The second group, characterized by a systemic cytokine storm and vasogenic brain edema, includes Reye-like syndrome, hemorrhagic shock and encephalopathy syndrome, and acute necrotizing encephalopathy. Non-steroidal anti-inflammatory drugs, such as diclofenac sodium and mephenamic acid, may aggravate these syndromes. Severe cases are complicated by multiple organ failure and disseminated intravascular coagulation. Mortality is high, although methylprednisolone pulse therapy may be beneficial in some cases. The third group, characterized by localized edema of the cerebral cortex, has recently been termed acute encephalopathy with febrile convulsive status epilepticus, and includes hemiconvulsion-hemiplegia syndrome and acute infantile encephalopathy predominantly affecting the frontal lobes. Theophylline is a risk factor of these syndromes. The pathogenesis is yet to be clarified, but an increasing body of evidence points to excitotoxicity and delayed neuronal death.     

Ultrastructure of the sural nerve in chronic polyneuropathy associated with Adie's syndrome

Summary The sural nerve of a woman of 35 with chronic polyneuropathy and Adie's syndrome was examined by electron microscopy. Myelinated nerve fibres were absent and there was marked reduction in the number of unmyelinated fibres. Onion bulb formation was not observed. Collagen fibres occupied the intercellular spaces.     

Conference report: Belgian consensus on metabolic problems associated with atypical antipsychotics

BACKGROUND: The current literature supports that schizophrenia (and bipolar disorders) appear to be associated with a higher prevalence of type 2 diabetes. Because of the silent nature of diabetes mellitus, and the fact that schizophrenic patients are not screened comprehensively for the disease, the true prevalence of hyperglycemia and diabetes may be substantially underestimated. Notably, it has been suggested that schizophrenia as such carries an increased risk, as certain characteristics of schizophrenic patients such as unhealthy life style promote the diabetes risk. LITERATURE FINDINGS: This risk may be increased by antipsychotic drug treatment, as was already suggested for first-generation antipsychotics (FGA). The amount of literature on the association of SGA and metabolic disorders is much larger however, although well-controlled prospective data are sparse. Reports comprise abnormal glucose regulation, exacerbation of existing type 1 and 2 diabetes, new-onset pseudo-type 1 or type 2 diabetes, diabetic ketoacidosis, coma and death. In large-scale studies (mostly retrospective), reviews and meta-analyses, the association was not found for all drugs. NEW DATA: According to recent reviews, the risk of developing diabetes was highest for clozapine and olanzapine, followed by quetiapine and risperidone. The hierarchy of liability of weight gain, or differential effects on insulin resistance was also in the described order. Apart from disturbances in glucose metabolism, further frequent metabolic abnormalities in schizophrenic patients on SGA include features of the metabolic syndrome. Antipsychotics such as clozapine and olanzapine have also been associated with hypertriglyceridemia, while agents such as haloperidol, risperidone and ziprasidone were associated with reductions in plasma triglycerides. Amisulpride, aripiprazole and ziprasidone seem to carry the lowest risk for weight gain, diabetes and effects on insulin resistance. CONCLUSION: As a consequence, there is a shift in attention toward physical health monitoring in patients with mental health disorders. The APA and ADA as well a British working group have recently published the findings on SGA and metabolic abnormalities in a joint statement (table I).     

Acute encephalopathy associated with ingestion of a mushroom,Pleurocybella porrigens (angel's wing), in a patient with chronic renal failure

The authors report an autopsy case of acute encephalopathy in which generalized convulsion and coma occurred after ingestion of Pleurocybella porrigens (angel's wing mushroom). The patient was a 65‐year‐old man who had undergone hemodialysis for 3 months due to chronic renal failure. Pathologic examination of the brain revealed extensive postinfarction‐like cystic necrosis in the bilateral putamens and multiple spotty necroses in the deep cerebral and cerebellar cortices. In 2004, similar acute encephalopathy related to ingestion of the mushroom was endemic in Japan, the pathogenesis of which remains to be elucidated.     

Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy

Muscle diseases may have various clinical manifestations including muscle weakness, atrophy or hypertrophy and joint contractures. A spectrum of non-muscular manifestations (cardiac, respiratory, cutaneous, central and peripheral nervous system…) may be associated. Few of these features are specific. Limb joint contractures or spine rigidity, when prevailing over muscle weakness in ambulant patients, are of high diagnostic value for diagnosis orientation. Within this context, among several disorders, four groups of diseases should systematically come to mind including the collagen VI-related myopathies, the Emery–Dreifuss muscular dystrophies, the SEPN1 and FHL1 related myopathies. More rarely other genetic or acquired myopathies may present with marked contractures. Diagnostic work-up should include a comprehensive assessment including family history, neurological, cardiologic and respiratory evaluations. Paraclinical investigations should minimally include muscle imaging and electromyography. Muscle and skin biopsies as well as protein and molecular analyses usually help to reach a precise diagnosis. We will first describe the main muscle and neuromuscular junction diseases where contractures are typically a prominent symptom of high diagnostic value for diagnosis orientation. In the following chapters, we will present clues for the diagnostic strategy and the main measures to be taken when, at the end of the diagnostic work-up, no definite muscular disease has been identified.