Global Rostral Midbrain Syndrome (GRMS) and Corpus callosum infarction in the context of shunt overdrainage.

We report 3 cases of Global rostral midbrain syndrome (GRMS) and Corpus Callosum (CC) infarction, in the context of hydrocephalus followed by shunt dysfunction and slit ventricles. Prior shunt implantation had been indicated for adult-onset hydrocephalus secondary to aqueductal stenosis of varying causes. All three patients had been stable for months before developing repeated shunt dysfunctions, ultimately progressing to parkinsonism, Parinaud syndrome, akinetic mutism, pyramidal signs, cognitive impairment, CC infarction and slit ventricles, in the context of CSF overdrainage. Parkinsonism-related symptoms responded to dopa in all cases, but Parinaud syndrome and cognitive impairment persisted. Although GRMS has been described in the context of a transtentorial pressure gradient after shunt blockage, in these three cases with similar clinical presentation, reverse transtentorial pressure gradient and slit ventricles due to shunt overdrainage was the likely cause. The authors discuss the role of CC infarction and provide a detailed analysis after gathering previously described data, to unify information under a recognizable clinical entity and better understand the underlying pathophysiology, treatment options and outcome.

Espectro clínico de la leucoencefalopatía multifocal progresiva: diferencias y similitudes en pacientes con y sin virus de la inmunodeficiencia humana / The clinical spectrum of progressive multifocal leukoencephalopathy: differences and similarities in patients with and without human immunodeficiency virus

Objetivo. Analizar los hallazgos clínicos, exámenes complementarios y pronóstico de los pacientes con leucoencefalopatía multifocal progresiva (LMP) atendidos en nuestra institución, comparando las poblaciones con y sin virus de la inmunodeficiencia humana (VIH) asociado. Pacientes y métodos. Estudio retrospectivo de historias clínicas de pacientes con LMP probable o definitiva. Se analizaron variables clínicas, estudios complementarios (líquido cefalorraquídeo, resonancia magnética cerebral) y variables pronósticas. Mediante pruebas estadísticas no paramétricas se realizó la comparación entre las poblaciones con y sin VIH. Resultados. Se incluyó a 14 pacientes con diagnóstico de LMP definitiva y uno probable. Nueve pacientes presentaron LMP asociada a VIH; cinco, otras condiciones de inmunoafectación (dos, leucemia linfática crónica; uno, esclerosis múltiple; uno, neuromielitis óptica; y uno, neurosarcoidosis); y uno, sin condición inmunosupresora evidente. La población con VIH presentó con mayor frecuencia lesiones de la sustancia blanca heterogéneas de aspecto «sucio» (77,7% frente a 16,67%; p = 0,0247) en la resonancia magnética cerebral. No se identificaron otras diferencias significativas en las restantes variables analizadas. Conclusión. El VIH/sida es la patología más frecuente asociada a LMP. Con el uso de fármacos inmunomoduladores se describe su aparición en una variedad de otras enfermedades. Las lesiones de la sustancia blanca heterogéneas de aspecto «sucio» fueron significativamente más frecuentes en pacientes con VIH

Aim. To analyse the clinical findings, complementary examinations and prognosis of patients with progressive multifocal leukoencephalopathy (PML) treated in our institution, comparing populations with and without associated human immunodeficiency virus (HIV). Patients and methods. A retrospective study of the medical records of patients with probable or definite PML was carried out. Clinical variables, complementary studies (cerebrospinal fluid, magnetic resonance imaging of the brain) and prognostic variables were analysed. Non-parametric statistical tests were used to compare HIV-positive and HIV non-positive populations. Results. Fourteen patients with definite and one probable diagnosis of PML were included. Nine patients had PML associated with HIV; five had other immunosuppressive conditions (two, chronic lymphatic leukaemia; one, multiple sclerosis; one, neuromyelitis optica; and one, neurosarcoidosis); and one, no obvious immunosuppressive condition. The population with HIV presented heterogeneous dirty-appearing white matter lesions more frequently (77.7% versus 16.67%; p = 0.0247) in the cerebral MRI. No other significant differences were identified in the remaining variables analysed. CONCLUSION. HIV/AIDS is the pathology most frequently associated with PML. With the use of immunomodulator drugs its appearance is reported in a variety of other diseases. Heterogeneous dirty-appearing white matter lesions were significantly more common in HIV patients

Clinical Correlations of Positive Herpes Simplex PCR in Cerebrospinal Fluid.

OBJECTIVES: Herpes simplex viruses (HSV) can produce encephalitis (HSE), which requires early detection, typically using polymerase chain reaction (PCR) in cerebrospinal fluid (CSF). However, other neurological conditions not directly caused by HSV may also present with a positive HSV PCR in the CSF (NCNHPCR+). We aimed to analyze the clinical features of both groups of patients (HSE vs. NCNHPCR+) and to consider the potential relevance of this finding in the latter. METHODS: A retrospective analysis of clinical presentation, workup (CSF, EEG, and MRI) and outcome of patients with an HSV+ result in CSF was conducted from Jan-2007 to Sep-2015 in our institution. Patients under 18 years and those with nonencephalitic HSV associated disorders were excluded. Group comparison between HSE and NCNHPCR+ patients was conducted using parametric and nonparametric tests accordingly. RESULTS: Sixteen HSE and 23 NCNHPCR+ patients were included. Patients with HSE presented a higher incidence of headache (87.5% vs. 43.5%; P=0.008), meningeal symptoms (50% vs. 17.4%; P=0.04), pleocytosis (75% vs. 18%; P=0.001), EEG abnormalities (46.67% vs. 22%; P=0.02) and typical MRI findings (50% vs. 0%; P<0.001), whereas 35% of patients with NCNHPCR+ had an underlying immunologic disorder (35% vs. 0%; P=0.012). CONCLUSIONS: The pathogenic role of HSV in NCNHPCR+ is uncertain. This finding must be interpreted in the appropriate clinical, EEG, and neuroimaging context. Immunocompromise and neuroinflammation states could be related to a higher presence of HSV in CSF.

Challenges in PD Patient Management After DBS: A Pragmatic Review.

BACKGROUND: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) or internal globus pallidus (GPi) represents an effective and universally applied therapy for Parkinson's disease (PD) motor complications. However, certain procedure-related problems and unrealistic patient expectations may detract specialists from indicating DBS more widely despite significant clinical effects. METHODS: This review provides a pragmatic educational summary of the most conflicting postoperative management issues in patients undergoing DBS for PD. RESULTS: DBS in PD has been associated with certain complications and post-procedural management issues, which can complicate surgical outcome interpretation. Many PD patients consider DBS outcomes negative due to unfulfilled expectations, even when significant motor symptom improvement is achieved. Speech, gait, postural stability, and cognition may worsen after DBS and body weight may increase. Although DBS may induce impulse control disorders in some cases, in others, it may actually improve them when dopamine agonist dosage is reduced after surgery. However, apathy may also arise, especially when dopaminergic medication tapering is rapid. Gradual loss of response with time suggests disease progression, rather than the wearing off of DBS effects. Furthermore, implantable pulse generator expiration is considered a movement disorder emergency, as it may worsen parkinsonian symptoms or cause life-threatening akinetic crises due to malignant DBS withdrawal syndrome. CONCLUSION: Major unsolved issues occurring after DBS therapy preclude complete patient satisfaction. Multidisciplinary management at experienced centers, as well as careful and comprehensive delivery of information to patients, should contribute to make DBS outcome expectations more realistic and allow post procedural complications to be better accepted.

A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.

Background: Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms. Case Report: An adult patient with cerebrotendinous xanthomatosis exhibited ataxia and palatal tremor in the absence of tendon xanthomas and cataracts. Discussion: The importance of this case resides on the fact that cerebrotendinous xanthomatosis should be considered as a possible etiology of the syndrome of progressive ataxia with palatal tremor, even in the absence of tendon xanthomas and cataracts. Early diagnosis is critical to the institution of specific treatment with chenodeoxycholic acid.

Clinical and cerebrospinal fluid findings contribute to the early differentiation between infectious and noninfectious encephalitis.

Early recognition and prompt specific treatment are crucial factors influencing the outcome of patients with acute encephalitis. The aim of this study was to determine the main causes of acute encephalitis in our population and to find predictors that may lead to specific diagnosis. Adult patients admitted to our hospital with suspected diagnosis of encephalitis in the period 2006-2013 were included. One hundred and five medical records were analyzed. Eighty-two patients with infectious encephalitis were identified (78% of total cases), 53 (65%) men and 29 (35%) women, mean age 47.8 years. The most common microorganisms identified were: HSV-1 (11%), VZV (10%), HSV-2 (5%) and EBV (5%). Twenty-three patients (22% of the series) had non-infectious encephalitis. Headache (p < 0.0001) and fever (p = 0.008) were more frequent in encephalitis of infectious origin. Protein levels and white blood cell counts in the cerebrospinal fluid were significantly higher in patients affected by infectious encephalitis than in those affected by noninfectious encephalitis (OR 95% CI 12.3 [2.9-51.7] and OR 95% CI 7.4 [2-27], respectively). Identifying specific causal agents of acute encephalitis remains a major challenge. Cerebrospinal fluid markers, as well as specific clinical findings, may however contribute to initial differentiation between infectious and noninfectious causes.

Clinical and cerebrospinal fluid findings contribute to the early differentiation between infectious and noninfectious encephalitis

Early recognition and prompt specific treatment are crucial factors influencing the outcome of patients with acute encephalitis. The aim of this study was to determine the main causes of acute encephalitis in our population and to find predictors that may lead to specific diagnosis. Adult patients admitted to our hospital with suspected diagnosis of encephalitis in the period 2006-2013 were included. One hundred and five medical records were analyzed. Eighty-two patients with infectious encephalitis were identified (78% of total cases), 53 (65%) men and 29 (35%) women, mean age 47.8 years. The most common microorganisms identified were: HSV-1 (11%), VZV (10%), HSV-2 (5%) and EBV (5%). Twenty-three patients (22% of the series) had non-infectious encephalitis. Headache (p < 0.0001) and fever (p = 0.008) were more frequent in encephalitis of infectious origin. Protein levels and white blood cell counts in the cerebrospinal fluid were significantly higher in patients affected by infectious encephalitis than in those affected by noninfectious encephalitis (OR 95% CI 12.3 [2.9-51.7] and OR 95% CI 7.4 [2-27], respectively). Identifying specific causal agents of acute encephalitis remains a major challenge. Cerebrospinal fluid markers, as well as specific clinical findings, may however contribute to initial differentiation between infectious and noninfectious causes.

El reconocimiento temprano y la instauración del tratamiento adecuado son dos elementos de gran relevancia en el pronóstico de las encefalitis agudas. El objetivo del presente trabajo es determinar las principales causas de encefalitis aguda en nuestro medio, así como buscar predictores que permitan orientar a un diagnóstico determinado. Se revisaron de manera retrospectiva las historias clínicas de todos los pacientes adultos que consultaron en nuestro centro entre 2006 y 2013 con el diagnóstico presuntivo de encefalitis. Ciento cinco pacientes fueron finalmente incluidos en nuestro estudio. Se identificaron 82 pacientes con encefalitis de origen infeccioso (78%), 53 (65%) fueron hombres y 29 (35%) mujeres, con una edad promedio de 47.8 años. Los agentes infecciosos más frecuentes fueron virus: HSV-1 12 (11%), VZV 11 (10%), HSV-2 5 (5%) y EBV 5 (5%). Se diagnosticó encefalitis no infecciosa en 23 (22%) pacientes. La cefalea (p < 0.0001) y la fiebre (p = 0.008) fueron más frecuentes en las encefalitis de origen infeccioso. Además, los niveles de proteínas y células en el LCR fueron significativamente mayores en los casos de etiología infecciosa que en los de etiología no infecciosa (OR 12.3 95%CI [2.9-51.7] y OR 7.4 95%CI [2-27], respectivamente). La identificación de la etiología específica de las encefalitis agudas continúa siendo un gran desafío y en la mayoría de los casos no se identifica el agente causal. Determinados marcadores en el LCR pueden contribuir a la identificación inicial de las encefalitis de etiología infecciosa versus no infecciosa.

Diagnostic Value of Combined Acute Levodopa Challenge and Olfactory Testing to Predict Parkinson's Disease.

BACKGROUND: The diagnosis of Parkinson's disease (PD) can be challenging early in the disease course, when motor features are subtle. The objective of this study was to explore the diagnostic value of combining acute levodopa challenge and olfactory testing to predict PD. METHODS: Data from 210 patients with a recent onset of parkinsonism who had at least 2 years of follow-up and underwent acute levodopa challenge for the clinical prediction of long-term dopaminergic response and had olfactory testing with Sniffin' Sticks Test were evaluated. Single and combined diagnostic measures were analyzed. RESULTS: After 2 years of follow-up, a PD diagnosis was confirmed in 157 patients who fulfilled United Kingdom Parkinson's Disease Society Brain Bank criteria and was ruled out in 53. Sensitivity and specificity of acute levodopa challenge to predict PD diagnosis were 0.71 and 0.94, respectively. Sensitivity and specificity of olfactory tests were calculated according to the total olfactory score for hyposmia (0.61 and 0.77 respectively), the hyposmia identification subscore (0.63 and 0.74, respectively), and the anosmia score (0.40 and 0.85, respectively). The best combination identified was response to acute levodopa challenge together with hyposmia according to the total olfactory score (sensitivity, 0.90; specificity, 0.74; positive predictive value, 0.91; negative predictive value, 0.72; accuracy, 0.86). CONCLUSION: The combination of response to acute levodopa challenge with hyposmia according to the total olfactory score improved sensitivity for the early diagnosis of PD.

Síndrome de superposición entre miastenia grave y miopatías inflamatorias idiopáticas / Overlap syndrome between myasthenia gravis and idiopathic inflammatory myopathies

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Phenomenology of abnormal movements in stuttering.

BACKGROUND: Stuttering is often accompanied by involuntary movements, abnormal gestures or changes in facial expression. OBJECTIVE: To describe the incidence and phenomenology of abnormal movements (AMs) in stuttering patients. MATERIALS AND METHODS: Eighty-five consecutive patients with stuttering and 119 normal controls videotaped and subsequently reviewed, in which AMs were classified as voluntary or involuntary, and as concurrent or unrelated to speech. Movement phenomenology was correlated with disease severity. RESULTS: Of 85 stuttering patients studied, 51.7% had AMs and 22 more than one AM. Sixty-six different AMs were identified, of which 83.3% occurred during speech, 72.7% were classified as involuntary, and 27.2% as voluntary. Of 38 involuntary movements concurrent to speech, 25 were originally perceived as voluntary, but had since become involuntary through repeated use during stuttering. All involuntary movements not concurrent to speech fulfilled criteria for tics. CONCLUSION: AMs occurring during stuttering were not always involuntary; movements not concurrent with speech clearly fulfilled clinical criteria for tics and were similar in incidence to normal controls. Inverse correlation was found between conscious control of movement during speech and stuttering severity. Many involuntary movements occurring during speech were clearly referred by patients as initially voluntary early on in the development of their speech disorder (starters or unblockers), underlining the importance of repetitive use of complex motor sequences as a source for putative involuntary movement genesis.