Parkinsonism associated with Sj?gren's syndrome: three cases and a review of the literature.

Sj?gren's syndrome (SS) is a common multisystem autoimmune disorder. As with other autoimmune disorders such as systemic lupus erythematosus (SLE), SS has been associated with a wide range of neurologic abnormalities. Parkinsonism has been reported previously in five SS patients. We present three additional cases of SS with parkinsonism.     

Tremor associated with Klinefelter syndrome – A case series and review of the literature

BackgroundPrevious case series suggested a link between Klinefelter syndrome (KS) and essential tremor (ET) or an ET-like syndrome.MethodsWe investigated three KS-patients with tremor including tremor-analyzes and discuss our data in context to findings from a literature review. The clinical outcome after deep brain stimulation (DBS) is also reviewed.ResultsTremor in KS is predominantly a postural and kinetic tremor that resembles ET. Our patients were further characterized by absent family history for tremor in first degree relatives, lack of subjective alcohol responsiveness inquired by history, and tremor onset in childhood. One of our patients and two cases from literature improved after DBS of the ventral intermediate nucleus (VIM) of the thalamus.ConclusionsTremor in KS shares several features with ET. If other characteristics such as family history, alcohol responsiveness, and age at tremor onset may serve as discriminating factors from ET, needs to be further investigated. First observations suggest that VIM-DBS may be efficacious.     

Posterior reversible encephalopathy syndrome as the initial manifestation of Guillain-Barré syndrome: case report and review of the literature

We report a 63-year-old female patient with Guillain-Barré syndrome revealed after posterior reversible encephalopathy syndrome. The onset was characterized by hypertension, headache, and cortical blindness, followed a few days later by progressive limb and facial paresis, dysautonomia, and respiratory failure. Treatment with plasmapheresis led to a rapid improvement of the clinical picture and the disappearance of magnetic resonance abnormalities. This report reviews the literature on this unusual association and discusses possible pathophysiological mechanisms.     

"Les psychoses passionnelles" reconsidered: a review of de Clérambault''s cases and syndrome with respect to mood disorders.

While de Clérambault's name has been linked to erotic delusions, he attempted to describe "pure" erotomania as a paradigm of a broader group of delusions. His own cases and a large number in the English and French literature seem to indicate that severe mood disorder, most likely bipolar affective disorder, is responsible for a portion of the erotomanic delusions. The concept of "les psychoses passionnelles" in the context of French psychiatry is reviewed.     

Large in-frame 5′ deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature

Duchenne muscular dystrophy is caused by mutations in the dystrophin-encoding DMD gene. While Duchenne is most commonly caused by large intragenic deletions that cause frameshift and complete loss of dystrophin expression, in-frame deletions in DMD can result in the expression of internally truncated dystrophin proteins and may be associated with a milder phenotype. In this study, we describe two individuals with large in-frame 5′ deletions (exon 3–23 and exon 3–28) that remove the majority of the N-terminal region, including part of the actin binding and central rod domains. Both patients had progressive muscle weakness during childhood but are observed to have a relatively mild disease course compared to typical Duchenne. We show that in muscle biopsies from both patients, truncated dystrophin is expressed at the sarcolemma. We have additionally developed a patient-specific fibroblast-derived cell model, which can be inducibly reprogrammed to form myotubes that largely recapitulate biopsy findings for the patient with the exon 3–23 deletion, providing a culture model for future investigation of this unusual case. We discuss these mutations in the context of previously reported 5′ in-frame DMD deletions and relevant animal models, and review the spectrum of phenotypes associated with these deletions.     

Phenotypic subtypes of progressive dysexecutive syndrome due to Alzheimer’s disease: a series of clinical cases

Journal of Neurology - Diagnostic criteria for a progressive dysexecutive syndrome due to Alzheimer's disease (dAD) were proposed. Clinical observations suggest substantial variability in the...     

Clinical characteristics and outcomes of patients with Guillain–Barré and acquired CNS demyelinating overlap syndrome: a cohort study based on a literature review

Abstract

Background:

Some patients with Guillain–Barré syndrome (GBS) also have acquired demyelination of the central nervous system (CNS) (i.e. acquired demyelinating syndrome, ADS). Often, the overlap of GBS and ADS is overlooked. Therefore, we evaluated case reports of GBS/ADS overlap syndrome.

Methods:

We mainly performed website-based research based on articles in cases presented with GBS/ADS overlap syndrome. A total of 66 cases were included. Clinical and prognosis data were analyzed.

Results:

A total of 85% of patients with simultaneous or consecutive occurrence of GBS and ADS were identified within 4 weeks of the initial diagnosis. Transverse myelitis (TM) (32%) was the most common ADS found in GBS/ADS. Patients with Miller Fisher syndrome (MFS)/ADS overlap syndrome had greater female predominance, mean age, frequency of onset at the same time period, or within a short period, and percentage of sole involvement of the subtentorial region. The outcome was favorable based on the functional status in 74% of patients. The sensory level (OR = 0·182, 95% CI = 0·055–0·598; P = 0·005) was the best predictor of a poor outcome, while visual deficit (OR = 4·667, 95% CI = 1·187–18·352; P = 0·027) predicted a favorable outcome.

Conclusion:

The ADS in GBS are diverse, CNS demyelinating may occur at any time, but early in the GBS course (and vice versa). MFS/ADS overlap syndromes is more common. The prognosis is generally good, but patients with sensory level deficit are likely to have a poor prognosis. The features of MFS/other CIS may better reflect involvement of the brainstem in MFS itself, rather than ADS in autoimmune peripheral neuropathies.     

Do the same genes predispose to Gilles de la Tourette syndrome and dystonia? Report of a new family and review of the literature.

Gilles de la Tourette syndrome (TS) and idiopathic focal torsion dystonia are both movement disorders in which the pathologic process is thought to arise within the basal ganglia. However, despite their possible functional links, they are clinically distinct and are generally considered to have different underlying etiologies. There are several reports in the literature that suggest a relationship between eye winking tics, excessive blinking, and blepharospasm and a report of the coexistence of tics and dystonia. We describe a three-generation family in which TS and dystonias cosegregate. In total, eight patients were affected, five with dystonia and three with TS/facial tics. One of the patients with historic evidence of dystonia subsequently died of motor neuron disease. The identification of this family further strengthens the evidence in favor of an etiologic relationship between some cases of Gilles de la Tourette syndrome and focal dystonia.     

Peri-ictal water drinking and other ictal vegetative symptoms: Localizing and lateralizing the epileptogenic zone in temporal lobe epilepsy? Two case reports and review of the literature

Peri-ictal behavior disorders can be helpful in localizing and lateralizing seizure onset in partial epilepsies, especially those originating in the temporal lobe. In this paper, we present the case of two right-handed women aged 36 and 42 years who presented with partial seizures of mesial temporal type. Both of the patients had drug resistant epilepsy and undergone presurgical evaluation tests including brain magnetic resonance imaging, video-EEG monitoring and neuropsychological testing. The two patients had hippocampal sclerosis in the right temporal lobe and exhibited PIWD behavior concomitant with right temporal lobe discharges documented during video-EEG recordings. Anterior temporal lobectomy was performed in one case with an excellent outcome after surgery. The patient was free of seizures at 3 years follow-up. We reviewed other publications of peri-ictal autonomic symptoms considered to have a lateralizing significance, such as peri-ictal vomiting, urinary urge, ictal pilo-erection. Clinicians should search for these symptoms, even if not spontaneously reported by the patient, because they are often under-estimated, both by the patients themselves and by physicians. Additionally, patients with lateralizing auras during seizures have a significantly better outcome after epilepsy surgery than those without lateralizing features.     

The pathogenesis of intracranial growing teratoma syndrome: proliferation of tumor cells or formation of multiple expanding cysts? Two case reports and review of the literature

Purpose

Growing teratoma syndrome (GTS) is a rare clinical phenomenon defined as the paradoxical growth of mature teratoma components during or after chemotherapy. The mechanism of this phenomenon is not well understood. We present two cases of pineal mixed germ cell tumors that exhibited the similar course to GTS and speculate its pathogenesis.

Case report

The first case was accompanied by slightly elevated alpha-fetoprotein (8.8 ng/ml; normal <6.6 ng/ml). The tumor rapidly grew from 1.5 to 2.7 cm in diameter within 4 weeks. Despite this rapid preoperative growth, thorough pathological investigation found only mature teratoma components along with multiple micro- and macro-cysts. The other case was diagnosed as a pure germinoma based on biopsy and serological examinations. During three courses of chemotherapy, this tumor presented a honeycomb-like appearance on magnetic resonance (MR) images and an exceptionally rapid enlargement. Second-look surgery confirmed the histological diagnosis of a mature teratoma. In both cases, meticulous pathological examination of all whole tumor sections revealed no malignant histological features, and the MIB-1 labeling indices were too low to account for the extremely rapid tumor growth. Instead, both MR images and histological findings demonstrated a predominant formation of multiple cysts.

Conclusion

We speculate that this paradoxical growth might not be tumorous proliferation but instead the formation and expansion of multiple cysts inside mature teratoma components and that the presence or absence of growth might be a subsidiary phenomenon. Our hypothesis appears consistent with the characteristic radiological findings of GTS reported in the literature.     

Expert opinion: use of valproate in girls and women of childbearing potential with epilepsy: recommendations and alternatives based on a review of the literature and clinical experience—a European perspective

Journal of Neurology - Valproate is a broad-spectrum antiepileptic drug (AED) of particular interest in pediatric epilepsy syndromes and idiopathic generalized epilepsy, as it is relatively more...     

Guillain-Barré syndrome associated with the D222E variant of the 2009 pandemic influenza A (H1N1) virus: case report and review of the literature

Guillain-Barré syndrome (GBS) is an acute immune-mediated disorder of the peripheral nervous system and a triggering infectious event is often reported in the weeks before the disease onset. Influenza viruses have been associated with Guillain-Barré syndrome (GBS), both after infection and, in rare cases, after vaccination. However, GBS has rarely reported to be a neurological complication of the recent pandemic influenza A(H1N1) 2009 virus infections. Here we describe the case of a young man, who developed acute severe motor inflammatory demyelinating polyradiculoneuropathy during influenza A(H1N1)2009 infection. Peculiar features are the findings of a mutated haemagglutinin gene (D222E variant), which has never previously been associated with neurological involvement, and the almost simultaneous appearance of respiratory infectious and immune-mediated neurological symptoms. Moreover we review the clinical presentation, laboratory findings and outcome of influenza-related GBS.     

Central nervous system Sjögren's syndrome in a child: case report and review of the literature

We describe a case of pediatric Sj?gren's syndrome with progressive neurologic involvement. At age 4 years, she had been diagnosed with Melkersson-Rosenthal syndrome. After being stable with facial diplegia and swelling for 5 years, she acutely presented with diplopia, vertigo, and ataxia. Cranial magnetic resonance imaging (MRI) showed a left dorsal midbrain lesion. Serologic and histopathologic findings confirmed primary Sj?gren's syndrome. She responded well to intravenous methylprednisolone, with subsequent clinical improvement and MRI resolution. This report reviews the pediatric literature and underscores the importance of considering Sj?gren's syndrome in a child with unexplained facial weakness and in the differential diagnosis of pediatric stroke.     

Syndromic features and mild cognitive impairment in mice with genetic reduction on p300 activity: Differential contribution of p300 and CBP to Rubinstein–Taybi syndrome etiology

Rubinstein–Taybi syndrome (RSTS) is a complex autosomal-dominant disease characterized by mental and growth retardation and skeletal abnormalities. A majority of the individuals diagnosed with RSTS carry heterozygous mutation in the gene CREBBP, but a small percentage of cases are caused by mutations in EP300. To investigate the contribution of p300 to RSTS pathoetiology, we carried out a comprehensive and multidisciplinary characterization of p300^+/? mice. These mice exhibited facial abnormalities and impaired growth, two traits associated to RSTS in humans. We also observed abnormal gait, reduced swimming speed, enhanced anxiety in the elevated plus maze, and mild cognitive impairment during the transfer task in the water maze. These analyses demonstrate that p300^+/? mice exhibit phenotypes that are reminiscent of neurological traits observed in RSTS patients, but their comparison with previous studies on CBP deficient strains also indicates that, in agreement with the most recent findings in human patients, the activity of p300 in cognition is likely less relevant or more susceptible to compensation than the activity of CBP.     

Human T-cell lymphotropic virus (HTLV)-associated encephalopathy: an under-recognised cause of acute encephalitis? Case series and literature review

Human T-cell lymphotropic virus (HTLV)-1-associated myelopathy (HAM) is well described. Clinical features are predominantly consistent with cord pathology, though imaging and autopsy studies also demonstrate brain inflammation. In general, this is subclinical; however, six cases have previously been reported of encephalopathy in HTLV-1-infected patients, without alternative identified aetiology. We describe three further cases of encephalitis in the UK HAM cohort (n = 142), whereas the annual incidence of acute encephalitis in the general population is 0.07–12.6 per 100,000. Clinical features included reduced consciousness, fever/hypothermia, headaches, seizures, and focal neurology. Investigation showed: raised CSF protein; pleocytosis; raised CSF:peripheral blood mononuclear cell HTLV-1 proviral load ratio; and MRI either normal or showing white matter changes in brain and cord. Four of the six previous case reports of encephalopathy in HTLV-infected patients also had HAM. Histopathology, reported in three, showed perivascular predominantly CD8+ lymphocytic infiltrates in the brain. One had cerebral demyelination, and all had cord demyelination. We have reviewed the existing six cases in the literature, together with our three new cases. In all seven with HAM, the spastic paraparesis deteriorated sub-acutely preceding encephalitis. Eight of the nine were female, and four of the seven treated with steroids improved. We propose that HTLV-associated encephalopathy may be part of the spectrum of HTLV-1-induced central nervous system disease.