Differential Diagnosis Of Encephalopathy Research Articles

Encephalitis associated with human herpesvirus-7 infection in an immunocompetent adult

BackgroundPrimary Human herpesvirus-7 (HHV-7) infection usually occurs during childhood and causes several clinical manifestations: mainly exanthem subitum (roseola infantum), followed by a lifelong latent state with possible reactivation in case of immunodeficiency. Nevertheless, some considerably different approaches exist regarding the natural history of HHV-7 and the possible consequences of HHV-7 infection in immunocompetent adults. In particular, little is known about its pathogenic role in central nervous system (CNS) disease in nonimmunosuppressed adults. Specifically, in case of encephalitis, it is important to distinguish between infectious encephalitis and postinfectious encephalomyelitis for the management of patientsCase presentationWe describe here a case of encephalitis associated to human herpesvirus-7 with associated polymyeloradiculopathy in an immunocompetent patient which may contribute to the delineation of the approach to a patient profile with a similar clinical presentation and evolution to those presented in the literature.ConclusionsThis case may alert clinicians to consider this specific etiology in the differential diagnosis of encephalopathy in patients with suspected infectious encephalitis who do not respond to acyclovir or in patients who develop acute polymyeloradiculopathy, considering that HHV-7 may be a pathological factor and that a timely diagnosis is crucial for the early administration of specific treatment.

Consensus guidelines for the investigation and management of encephalitis in adults and children in Australia and New Zealand.

Encephalitis is a complex neurological syndrome caused by inflammation of the brain parenchyma. The management of encephalitis is challenging because: the differential diagnosis of encephalopathy is broad; there is often rapid disease progression; it often requires intensive supportive management; and there are many aetiologic agents for which there is no definitive treatment. Patients with possible meningoencephalitis are often encountered in the emergency care environment where clinicians must consider differential diagnoses, perform appropriate investigations and initiate empiric antimicrobials. For patients who require admission to hospital and in whom encephalitis is likely, a staged approach to investigation and management is preferred with the potential involvement of multiple medical specialties. Key considerations in the investigation and management of patients with encephalitis addressed in this guideline include: Which first-line investigations should be performed?; Which aetiologies should be considered possible based on clinical features, risk factors and radiological features?; What tests should be arranged in order to diagnose the common causes of encephalitis?; When to consider empiric antimicrobials and immune modulatory therapies?; and What is the role of brain biopsy?

Astrovirus VA1/HMO-C: An Increasingly Recognized Neurotropic Pathogen in Immunocompromised Patients

An 18-month-old boy developed encephalopathy, for which extensive investigation failed to identify an etiology, 6 weeks after stem cell transplant. To exclude a potential infectious cause, we performed high-throughput RNA sequencing on brain biopsy. RNA-Seq was performed on an Illumina Miseq, generating 20 million paired-end reads. Nonhost data were checked for similarity to known organisms using BLASTx. The full viral genome was sequenced by primer walking. We identified an astrovirus, HAstV-VA1/HMO-C-UK1(a), which was highly divergent from human astrovirus (HAstV 1-8) genotypes, but closely related to VA1/HMO-C astroviruses, including one recovered from a case of fatal encephalitis in an immunosuppressed child. The virus was detected in stool and serum, with highest levels in brain and cerebrospinal fluid (CSF). Immunohistochemistry of the brain biopsy showed positive neuronal staining. A survey of 680 stool and 349 CSF samples identified a related virus in the stool of another immunosuppressed child. The discovery of HAstV-VA1/HMO-C-UK1(a) as the cause of encephalitis in this case provides further evidence that VA1/HMO-C viruses, unlike HAstV 1-8, are neuropathic, particularly in immunocompromised patients, and should be considered in the differential diagnosis of encephalopathy. With a turnaround from sample receipt to result of <1 week, we confirm that RNA-Seq presents a valuable diagnostic tool in unexplained encephalitis.

Ophthalmoparesis Mimicking Myasthenia Gravis as Acute Manifestation of HashimotoÂ’s Encephalopathy

Hashimoto’s encephalopathy is a rare steroid-responsive disorder in which neuropsychological and neurological symptoms are associated with Hashimoto’s thyroiditis. Recently, it has gained attention in the differential diagnosis of encephalopathy of unknown origin, although its pathogenesis is poorly understood. The diagnosis of Hashimoto’s encephalopathy rests upon the association of autoimmune thyroiditis and neurological symptoms after excluding more common diseases, but is a serious challenge in atypical cases. We here present a patient with isolated ocular disorder as presenting and unic feature of Hashimoto’s encephalopathy that resolved with steroids therapy. Brain MRI showed non-specific white matter abnormalities; EEG and an extensive neurophysiological investigation were normal. The diagnosis in this euthyroid patient was supported by the presence of serum anti-thyroid antibodies and the identification in the CSF of anti-dimethylargininase-I and aldehyde reductase-I autoantibodies. The description of atypical cases of this rare but certainly underestimated condition is clinically important and adds relevant information for the clinical practice.

Citrulinemia de presentación atípica: hipo persistente. A propósito de un caso

We report an infant who developed encephalopathy within the first 3 days of life. He had persistent hiccups that progressed to deep coma 72 hours after admission. The sepsis parameters and cerebrospinal fluid examination (CSF) were normal. The metabolic evaluation confirmed hyperammonemia, and hypercitrullinemia. The ratio of CSF/plasma glycine concentration was normal. This did not agree with our initial diagnosis of nonketotic hyperglycinemia where hiccups is present more often. Neonatal onset of argininosuccinic acid synthetase deficiency (ASD; citrullinemia) should be brought in mind in the differential diagnosis of encephalopathy in association with hiccups in the neonatal period suggesting inborn errors of metabolism.

Clinical analysis of 22 cases with Hashimoto's encephalopathy

Objective To investigate the clinical presentations of Hashimoto's encephalopathy (HE), so as to improve the diagnosis and treatment of this disease. Methods A retrospective analysis was performed on clinical features, laboratory findings, imaging profiles, treatment and outcomes of 22 patients with HE who were admitted to our hospital between June 2010 and September 2013. Results Clinical symptoms were mainly acute or subacute cognitive impairment (9 cases), psychiatric symptoms (6 cases), seizures (5 cases), ataxia (5 cases), stroke-like episodes (6 cases), tremor (1 case), myoclonus (2 cases) and disturbance of consciousness (3 cases). Marked increase was found in serum anti-thyroid peroxidase (anti-TPO) antibody level (19 cases) and anti-thyroglobulin (anti-TG) antibody level (20 cases). Twenty-one cases were treated with glucocorticoids, and one patient was treated only with general neurotrophic therapy, such as ganglioside. Except for 4 cases showed bad response to steroids, the rest patients had an obvious improvement. Conclusions Hashimoto's encephalopathy is an encephalopathy with the presence of elevated antithyroid antibodies, and most patients showed good response to steroids. So early diagnosis and treatment is particularly important for improving prognosis. This disease should be considered as an important differential diagnosis for encephalopathy of unknown etiology, and screening for serum antithyroid antibodies should be performed as initial screening test. doi: 10.3969/j.issn.1672-6731.2014.07.008

Clinical Reasoning: An encephalopathic 3-day-old infant

A full-term, 3-day-old infant presented to the emergency department with poor feeding, increased work of breathing, and encephalopathy 1 day after having been discharged from the hospital in good health. Pregnancy and labor were uneventful, and birth was by spontaneous vaginal delivery. Apgar scores were 9 and 9 at 1 and 5 minutes, respectively. The infant's nursery course was unremarkable. On the evening after discharge, his parents noted he became sleepy and lost interest in feeding over the next 12 hours. The following morning, they noted his breathing was rapid, so they brought him to the emergency room. His general examination at presentation revealed suprasternal retractions, a flat anterior fontanelle, and an enlarged liver. Neurologic examination was notable for marked encephalopathy; he did not open his eyes or react to stimulation. His suck was weak and poorly coordinated and his gag reflex was absent. He lay in a frog-legged position; however, passive tone was increased in all 4 extremities. There were no spontaneous movements or motor response to noxious stimulation. Deep tendon reflexes were symmetrically brisk without ankle clonus. ### Questions for consideration: 1. What is the differential diagnosis for an infant who is initially well but becomes encephalopathic at several days of life? 2. What are the initial steps to evaluate an encephalopathic neonate? The differential diagnosis for encephalopathy in a previously well 3-day-old full-term neonate includes infection (sepsis, meningitis, encephalitis), a vascular event such as a sinovenous thrombosis, nonaccidental trauma, epilepsy leading to nonconvulsive status, and metabolic disturbances secondary either to inborn errors of metabolism or exogenous causes (such as inaccurate preparation of infant formula). A careful review of the history can help identify infectious risk factors, such as a maternal history of group B streptococcus colonization, prolonged rupture of membranes, or labor complicated by chorioamnionitis. Absence of herpetic lesions does not exclude the …

Do benzodiazepine ligands contribute to hepatic encephalopathy?

1. Levels of BZ receptor ligands are elevated in the brain of animal models of FHF and humans with FHF. Some of these ligands have agonist properties and some are known 1, 4-BZs which bind to the DS receptor. Much of the BZ receptor ligand activity in HE is unidentified and it is possible that some may bind to receptor subtypes other than the DS receptor. 2. Average levels of BZ receptor ligands in the brain in HE do not appear to be sufficient to augment GABAergic tone to a degree that would result in severe encephalopathy (i.e. coma). However, these ligands have a heterogeneous distribution in the brain and their neuroinhibitory effects may be potentiated by increased availability of GABA at GABAA receptors. Furthermore, that these ligands may contribute to HE is suggested by anecdotal reports of ameliorations of HE being induced in a majority of patients by the BZ receptor antagonist flumazenil. 3. The response of HE to flumazenil in humans is usually incomplete and in animal models may be modest. Potential explanations for these findings include pharmacokinetics, BZ receptor subtype specificity and higher levels of BZ receptor ligands in the brain in humans with HE than in animal models. 4. Certain BZ receptor ligands e.g. Ro 15-3505 and Ro 15-4513, that are structurally related to flumazenil, are more efficacious at ameliorating HE than flumazenil in animal models. These findings may be more dependent on differences in BZ receptor subtype specificity than differences in intrinsic activity. The properties of an ideal BZ receptor ligand for administration to a patient with HE would appear to be: (i) antagonist action at BZ receptors, (ii) no intrinsic activity apparent after a conventional pharmacologic dose, (iii) high specificity and affinity for BZ receptors, (iv) slow metabolism, and (v) absence of toxic effects. Promising ligands, such as Ro 15-3505, with weak partial inverse agonist actions and hence analeptic potential, require careful evaluation of their therapeutic index before clinical application. 5. BZ receptor ligands may be useful in the management of HE. Specifically, they may be given IV: (i) to reverse effects of exogenous BZs; (ii) to aid in the differential diagnosis of encephalopathy; (iii) to provide prognostic information; and (iv) to optimize brain function. They may also be given orally with the objective of reducing dietary protein intolerance in patients with chronic liver disease.