Psychogenic non-epileptic seizures: a challenging entity

Psychogenic non-epileptic seizures (PNES) are commonly encountered in neurologic practice. They are often misdiagnosed as epileptic seizures and treated as such for several years before a correct diagnosis is established. Such a misdiagnosis has the potential to expose patients to undue risk through several anti-epileptic drugs (AEDs). Patients are also affected in other ways, such as by financial consequences and the limitation of certain daily activities. In this review, we present the contemporary opinion of PNES with attention to clinically relevant salient features and management strategies.     

A clinically isolated syndrome: A challenging entity

Abstract   Acute isolated neurological syndromes, such as optic neuropathy or transverse myelopathy, may cause diagnostic problems since they can be the first presentations of a number of diseases such as multiple sclerosis (MS) and collageneous tissue disorders. In the present study, particular systemic lupus erythematosus (SLE) and primary Sjogren syndrome (pSS) patients, who were followed up with the initial diagnosis of possible MS with no evidence of collagen tissue disorders for several years, are described. Five patients with the final diagnosis of SLE and five pSS patients are evaluated with their neurologic, systemic and radiologic findings. Over several years, all developed some systemic symptoms like arthritis, arthralgia, headache, dry mouth and eyes unexpected in MS. During the regular and close follow-up laboratory evaluations of vasculitic markers revealed positivity, leading to the final definite diagnosis of SLE or pSS. Patients with atypical neurological presentation of MS, a relapsing remitting clinical profile, or lack of response to the regular MS treatment should be evaluated for the presence of a connective tissue disease. Various laboratory tests, such as cerebrospinal fluid findings, autoantibodies profile, markers, cranial and spinal magnetic resonance imaging, can be helpful for the differential diagnosis. Lack of response to the regular multiple sclerosis treatment, even increasing rate of relapses can force the clinician for the differential diagnosis. In particular cases an accurate diagnosis can only be made after close follow-up.     

Spastic paretic hemifacial contracture related to multiple sclerosis: a rare and under-recognized entity

We describe an additional case of spastic paretic hemifacial contracture, an uncommon condition characterized by sustained unilateral contraction of the facial muscles associated with mild ipsilateral facial paresis. This entity has only rarely been associated with multiple sclerosis (MS) and can be mistaken for hemifacial spasm. Early consideration of MS in the differential diagnosis of young patients admitted with these symptoms is essential.     

Anti-NMDAR encephalitis: a new, severe and challenging enduring entity

Two girls, 15- and 17-year old, were consecutively and involuntarily admitted to the local child and adolescent psychiatric hospital with severe first onset psychosis. Due to refractory agitation, ongoing psychosis and insomnia, catatonic features, autonomic instability and the need for one-on-one guidance, the first girl was transferred to the PICU of an academic tertiary hospital and anti-NMDA receptor encephalitis was diagnosed. Given this experience nursing staff suspected, due to similarities in the clinical presentation and course, anti-NMDA receptor encephalitis in the second girl also and this proved to be true. The main clinical features, pharmacological and non-pharmacological treatment strategies and outcomes are presented and discussed. Perhaps, one ought to suspect anti-NMDA receptor encephalitis in every case of severe first onset psychosis with catatonic features.     

Immune reconstitution inflammatory syndrome of the brain: case illustrations of a challenging entity

Immune reconstitution inflammatory syndrome represents a spectrum of clinicopathologic entities encountered in human immunodeficiency virus-infected patients who have received highly active anti-retroviral therapy. The diagnosis is often challenging, treatment options are limited, and the prognosis is variable. To increase awareness and define the clinicopathologic features, we present our experience with 6 probable cases involving the brain, including 1 autopsy. Clinicopathologic review was supplemented by immunohistochemical analysis. There were 5 men and 1 woman, ranging in age from 34 to 47 (mean, 41; SD, 5.39) years. All patients experienced neurologic deterioration (focal deficits in 5/6) after highly active anti-retroviral therapy. All specimens showed a predominance of CD8+ lymphocytic inflammation. Concurrent CNS infections included human immunodeficiency virus encephalitis, progressive multifocal leukoencephalopathy, cryptococcal meningitis, and syphilis. One patient died, 1 was lost to follow-up, 2 improved, and 2 showed no substantial clinical changes. Subtle and overlapping features may preclude a definitive diagnosis. To capture all suspected cases, it is important to consider the possibility of this entity. In this study, the degree of CD8+ inflammation was more pronounced in the single fatal example, and mast cells were not identified in the infiltrates. Although nonspecific, imaging findings may offer clues to early diagnosis.     

Partially sequestered fourth ventricle: CT and MR diagnosis of an unusual entity

Encystment of the fourth ventricle, due to occlusion of the aqueduct as well as the foramina of Magendie and Luschka has been described previously. Partial sequestration such as that encountered in two cases described is a less common entity. In these two cases, the aqueduct of Sylvius was occluded, but the basal foramina (Magendie and Luschka) were patent. We discuss this partial sequestration or communicating hydrocephalus of the fourth ventricle on the basis of MR and CT scan findings. Although computed tomography following water soluble cisternography did diagnose the entity indirectly MRI proved to be a superior tool. It permitted direct visualization of the basal foramina noninvasively.     

Manganese encephalopathy: an under-recognized condition in the intensive care unit

Background  

Manganese encephalopathy is a potential complication of parenteral nutrition. Lack of early recognition leads to unnecessary testing and to continued exposure to manganese.     

Episodic low-amplitude events: an under-recognized phenomenon in clinical electroencephalography

In a series of 20 EEGs from 15 patients, well-defined brief attenuations occurred interspersed among the background activity. These episodic low-amplitude events (ELAEs) typically lasted 0.5-4 s. They were hemispheric or bisynchronous and occurred in patients with coma of various etiologies, including status epilepticus. The episodes of attenuation were brief and no bursts of activity were present, distinguishing this finding from burst-suppression. Prognosis was poor in the patients with coma due to entities other than status epilepticus. In the setting of status epilepticus, the prognosis depended on the etiology. This pattern may be an ictal phenomenon, or a product of waveform simplification. ELAEs are a manifestation of seriously abnormal EEG activity and correlate with a 50% mortality.     

Intradural chordoma of the Meckel's cave: A challenging differential diagnosis

Chordomas are midline tumors that arise from embryonic remnants of the notochord and are considered to be malignant tumors because of their tendency to invade and destroy the involved bone. Cases of intradural chordomas without bone involvement have been rarely described with a predilection for prepontine location. The absence of bony invasion renders the complete excision of these tumors more feasible and is related to their better prognosis in comparison to conventional chordomas. Herein we report the first intradural chordoma arising in the Meckel's cave. The intradural location of the lesion, outside midline structures, in the absence of bone infiltration, made the differential diagnosis versus other meningeal lesions such as chordoid meningioma challenging. The intense and strong immunohistochemical expression of pan‐cytokeratins, S100, cytokeratin‐19 and of the notochordal marker brachyury allowed differential diagnosis toward other tumors showing chordoid morphology. The expression of brachyury, which had not been previously analyzed in intradural chordoma, definitely links the histogenesis of this neoplasia to the notochord, similar to that of conventional chordoma. We also show that, different from conventional chordoma, intradural chordoma does not express the metallo‐proteinases (MMPs) ‐2 and ‐9, which may account for its indolent biological behavior.     

Pallido-pyramidal syndrome: an unrecognized entity

A female teenager, without familial history, presented, since the age of 13 years, with gradually worsening pyramidal signs and a parkinsonian syndrome controlled by L-Dopa in small doses. The clinical complex was suggestive of the pallido-pyramidal syndrome, an entity which was individualized in 1954 by Davison on the basis of 5 young patients who had pyramidal signs and a parkinsonian syndrome. In only one of these patients a pathological study was carried out, disclosing a non specific degeneration without inclusions, involving the pallidum, substantia nigra and pyramidal tract. We hope that this report will encourage other authors to report similar cases, since only the study of new cases will determine whether the pallido-pyramidal syndrome is a true entity.     

Progressive anarthria: an individual entity

INTRODUCTION: First described 15 years ago, primary progressive anarthria is a focal cortical atrophy defined as a rare progressive impairment of speech associated with orofacial apraxia and leading to mutism with a frontal lobe syndrome. The aim of this study was to analyze clinical and neuropsychological data and results of complementary tests in a series of patients presented with primary progressive anarthria. MATERIAL AND METHODS: We, retrospectively, studied five patients with primary progressive anarthria. We particularly analyzed the following parameters: age at onset, age at the diagnostic, disease time from onset to first consultation, the initial orientation, the neuropsychological and clinical data at the first visit, electromyography, brain MRI, and single photon emission computed tomography (SPECT) findings. Clinical and neuropsychological data were used to monitor disease course. RESULTS: The mean age at onset of symptoms was 75.2+/-5.8 years. Patients were primarily referred to a specialist in memory disease (n=3) or a specialist in motor neuron disease (n=2). The time from onset to first consultation was 11.2+/-3 months. Anarthria was associated with dysexecutive syndrome and sometimes, with impaired comprehension. Electromyography was always normal. Cranial MRI showed temporal or left frontal atrophy (n=3). Spect revealed decreased cerebral blood flow predominating in the left frontal or temporal region (n=4). CONCLUSION: Long delay for specialist consultation and inadequate initial orientation retard disease diagnosis, leading to severe incapacity. Complementary studies are required to confirm diagnostic and to rule out lateral amyotrophic sclerosis. During the early stages, involvement of the premotor cortex may be considered due to the speech apraxia. Secondary motor orofacial disturbances suggest an extension to the motor cortex. Primary progressive anarthria is a distinct individual entity within the spectrum of focal cortical atrophies.     

Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are the most common adult form of muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. Diagnostic delay in DM2 is due not only to the heterogeneous phenotype and the aspecific onset but also to the unfamiliarity with the disorder by most clinicians. Moreover, the DM2 diagnostic odyssey is complicated by the difficulties to develop an accurate, robust, and cost-effective method for a routine molecular assay. The aim of this review is to underline by challenging approach the diagnostic limits and pitfalls that could results in failure to recognize the presence of DM2 disease. Understanding and preventing delays in DM2 diagnosis may facilitate family planning, improve symptom management in the short term, and facilitate more specific treatment in the long term.     

Neuralgic amyotrophy: an increasingly diverse entity

We describe nine cases of neuralgic amyotrophy whose clinical and electrophysiologic findings suggest lesions of individual peripheral nerves or peripheral nerve branches occurring singly (mononeuropathy) or in various combinations (mononeuropathy multiplex). There were four occurrences of isolated denervation of the pronator teres muscle; four occurrences of anterior interosseous nerve lesions; three occurrences of lateral antebrachial cutaneous nerve lesions; two occurrences of long thoracic nerve lesions; and one occurrence each of a median nerve trunk lesion, a median palmar cutaneous branch lesion, a suprascapular nerve lesion, and an axillary nerve lesion. "Neuralgic" pain was a prominent feature in all cases, and the location of the pain correlated with the location of the nerve lesions. We hypothesize that the specific course of certain nerves (especially their location across joints) selectively exposes them to mild focal trauma that increases their susceptibility to this disease. Whatever the etiology, this entity is considerably more diverse than generally appreciated.