RESUMEN
INTRODUCTION: Perineural spread of malignant melanoma (MM) along cranial nerves is a rare complication of MM of the head and neck. CASE REPORT: A 78-year-old man presented with untreatable facial pain and cutaneous hypoesthesia in V2/V3 branches of right trigeminal nerve. Six months earlier patient removed a lentigo maligna melanoma in his right upper lip and a MM in his right gingiva. Brain magnetic resonance imaging showed pathologic thickening of the right maxillary and mandibular nerves and of the intracranial trigeminal nerve. Infraorbital nerve biopsy confirms MM neural metastasis. BRAFV600E mutation was identified only in the lentigo maligna melanoma. Patient was treated with brain proton therapy but 5 months later developed sensorimotor deficit of his right arm because of a cervical metastasis. CONCLUSIONS: In patients presenting with atypical facial pain and history of head and neck melanoma a trigeminal spreading should be considered. Magnetic resonance imaging can detect early perineural spread and target biopsy.
Asunto(s)
Melanoma , Neoplasias Cutáneas , Anciano , Humanos , Imagen por Resonancia Magnética , Masculino , Melanoma/diagnóstico por imagen , Nervio TrigéminoAsunto(s)
Catatonia , Demencia Frontotemporal , Encéfalo/diagnóstico por imagen , Catatonia/diagnóstico por imagen , Catatonia/etiología , Demencia Frontotemporal/complicaciones , Demencia Frontotemporal/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Tomografía de Emisión de PositronesRESUMEN
Behavioral and cognitive variables predicting behavioral frontotemporal dementia (bvFTD) versus primary psychiatric disorders mimicking bvFTD (phenocopy syndrome: bvFTD-PS) were studied. Forty-one probable/definite bvFTD and 16 bvFTD-PS patients were evaluated with cognitive battery, Neuropsychiatric Inventory, and Stereotypic and Ritualistic Behavior-revised questionnaires. Twenty-seven healthy subjects served as control. Severity of cognitive impairment/behavioral symptoms and profile of cognitive deficits were similar, with bvFTD-PS showing impaired executive abilities and memory. However, phonemic fluency was impaired only in bvFTD (pâ<â0.001). Depression was worse in bvFTD-PS, while apathy, disinhibition, and dietary changes characterized bvFTD. Phonemic fluency and depression accounted for the best predictive diagnostic model. A structured psychiatric screening of bvFTD mimickers may often yield a psychiatric diagnosis with predominant depressive symptoms and therefore a potentially treatable condition.
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Trastornos del Conocimiento/diagnóstico , Cognición/fisiología , Disfunción Cognitiva/diagnóstico , Demencia Frontotemporal/diagnóstico , Anciano , Apatía/fisiología , Trastornos del Conocimiento/psicología , Disfunción Cognitiva/psicología , Diagnóstico Diferencial , Femenino , Demencia Frontotemporal/psicología , Humanos , Masculino , Memoria/fisiología , Persona de Mediana Edad , Pruebas Neuropsicológicas , Índice de Severidad de la EnfermedadRESUMEN
The Free and Cued Selective Reminding test (FCSRT) was used to assess memory in 19 patients with prodromal dementia with Lewy bodies (DLB) and 25 Alzheimer's disease (AD) patients. DLB scored better than AD in selective measures of the FCSRT: immediate total recall (p = 0.01) and index of sensitivity of cueing (p = 0.001), while free delayed and total memory scores were similarly impaired. The index of sensitivity of cueing held a sensitivity of 76% and specificity of 79% in distinguishing DLB. FCSRT could help in disentangling hippocampal memory deficits from memory impairment due to ineffective recall strategies.
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Enfermedad de Alzheimer/complicaciones , Hipocampo/fisiopatología , Enfermedad por Cuerpos de Lewy/complicaciones , Trastornos de la Memoria/diagnóstico , Trastornos de la Memoria/etiología , Síntomas Prodrómicos , Anciano , Anciano de 80 o más Años , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/etiología , Señales (Psicología) , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Escalas de Valoración Psiquiátrica , SemánticaRESUMEN
BACKGROUND: Standard measures of commonly used memory tests may not be appropriate to distinguish different neurodegenerative diseases affecting memory. OBJECTIVE: To study whether specific measures of verbal memory obtained with the Rey Auditory Verbal Learning test (RAVLT) could help distinguish dementia with Lewy bodies (DLB) from Alzheimer's disease (AD). METHODS: Twenty-nine DLB and 32 AD patients participated in the study and were followed longitudinally for 3 years until the diagnosis was confirmed according to standard clinical criteria. Twenty-eight healthy elderly subjects served as controls. The following verbal memory measures were evaluated: verbal learning (VL), verbal forgetting (VF), percentage of verbal forgetting (VF%), and serial position effects of the immediate recall performance. RESULTS: DLB and AD groups have comparable performances at the RAVLT immediate and delayed recall tasks. However, VL was higher in DLB than AD while VF% was greater in AD. With a VF% cut-off ≥75%, AD and DLB patients were differently distributed, with 58% of AD versus 21% of DLB above this cut-off. The recency effect was significant higher in AD than DLB. DISCUSSION: DLB patients had a better performance in VL than AD, but worse VF and recency effect. These specific measures of verbal memory could be used as cognitive markers in the differential diagnosis between these two conditions.
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Enfermedad de Alzheimer/complicaciones , Enfermedad de Alzheimer/diagnóstico , Enfermedad por Cuerpos de Lewy/diagnóstico , Trastornos de la Memoria/diagnóstico , Trastornos de la Memoria/etiología , Aprendizaje Verbal/fisiología , Anciano , Anciano de 80 o más Años , Cognición/fisiología , Estudios de Cohortes , Femenino , Humanos , Masculino , Recuerdo Mental/fisiología , Pruebas Neuropsicológicas , Escalas de Valoración Psiquiátrica , Curva ROCAsunto(s)
Encefalopatías/diagnóstico , Encefalopatías/tratamiento farmacológico , Hiperamonemia/diagnóstico , Hiperamonemia/tratamiento farmacológico , Mieloma Múltiple/diagnóstico , Esteroides/uso terapéutico , Anciano , Encéfalo/efectos de los fármacos , Encéfalo/fisiopatología , Encefalopatías/etiología , Encefalopatías/fisiopatología , Diagnóstico Diferencial , Femenino , Humanos , Hiperamonemia/etiología , Hiperamonemia/fisiopatología , Mieloma Múltiple/tratamiento farmacológico , Mieloma Múltiple/fisiopatologíaAsunto(s)
Enfermedad de Whipple/complicaciones , Enfermedad de Whipple/diagnóstico , Anticuerpos/líquido cefalorraquídeo , Cardiolipinas/inmunología , Enfermedades Gastrointestinales/complicaciones , Humanos , Masculino , Persona de Mediana Edad , Enfermedades del Sistema Nervioso/etiología , Enfermedades del Sistema Nervioso/microbiología , Disco Óptico/diagnóstico por imagen , Enfermedad de Whipple/líquido cefalorraquídeo , Enfermedad de Whipple/virologíaRESUMEN
BACKGROUND: Idiopathic normal-pressure hydrocephalus (iNPH) can resemble or occur in combination with other brain disorders frequently present in the elderly such as Alzheimer's disease (AD) and dementia with Lewy bodies (DLB). OBJECTIVE: To study the accuracy of a simplified callosal angle measure in differentiating iNPH from DLB and AD using conventional brain MRI. METHODS: 76 patients (24 iNPH, 30 DLB, 22 AD) and 40 healthy controls served as discovering cohort. The callosal angle measure was obtained on standard coronal brain MRI images crossing the corpus callosum midpoint. 41 patients (21 iNPH and 20 DLB/AD) were used as independent validation cohort. A set of other conventional MRI markers of iNPH was also evaluated. RESULTS: iNPH showed a significantly decreased mean callosal angle value compared to both disease groups and controls (iNPHâ=â109±9; DLBâ=â136.9±8.2; ADâ=â135.4±11.3; Controlsâ=â138.5±5.2; pâ< â0.00001). Using a cut off angle of 123, derived by the mean -3SD of the control group, an accuracy of 96% (sensitivity 100% , specificity 95.4% ) was obtained. By ROC analysis, the area under the curve was 0.99 (95% CI: 0.97-1). The measure was consistent (intra-rater: râ=â0.94) and reproducible (inter-rater: râ=â0.89). In the validation cohort, this cut off angle value discriminated iNPH from DLB/AD with 97.5% accuracy. None of the conventional MRI signs reached the same accuracy. CONCLUSIONS: This simplified callosal angle measure represents an accurate, reproducible, and easy marker of iNPH.
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Cuerpo Calloso/patología , Demencia/diagnóstico , Hidrocéfalo Normotenso/diagnóstico , Enfermedades Neurodegenerativas/diagnóstico , Anciano , Anciano de 80 o más Años , Análisis de Varianza , Estudios de Cohortes , Demencia/complicaciones , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Imagen por Resonancia Magnética , Masculino , Escala del Estado Mental , Persona de Mediana Edad , Estadísticas no ParamétricasRESUMEN
OBJECTIVE: To describe a patient with behavioral variant frontotemporal dementia (bvFTD) presenting with impulse control disorders (ICDs) which responded to fluvoxamine and topiramate. CASE REPORT: A 64-year-old woman was affected by several ICDs. At disease onset, she suffered from impulsive smoking and overeating which caused a body weight increase of 20 kg in 6 months. Later on she manifested binge-eating behavior and skin-picking compulsion. Presence of progressive frontal cognitive impairment (Mini Mental State Examination 24/30) and evidence of hypoperfusion of the anterior cingulate and dorsolateral frontal cortex with brain single-photon emission computed tomography scan contributed to the diagnosis of bvFTD. Use of combination treatment with selective serotonin reuptake inhibitor drugs and topiramate improved all these symptoms. CONCLUSION: This case extends the clinical phenotype of repetitive and compulsive habits in bvFTD to encompass symptoms suggestive of ICDs. It is proposed that fluvoxamine and topiramate may be considered as treatment options in these conditions.
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Anticonvulsivantes/farmacología , Trastornos Disruptivos, del Control de Impulso y de la Conducta/tratamiento farmacológico , Fluvoxamina/farmacología , Demencia Frontotemporal/tratamiento farmacológico , Fructosa/análogos & derivados , Inhibidores Selectivos de la Recaptación de Serotonina/farmacología , Anticonvulsivantes/administración & dosificación , Trastornos Disruptivos, del Control de Impulso y de la Conducta/etiología , Trastornos Disruptivos, del Control de Impulso y de la Conducta/fisiopatología , Sinergismo Farmacológico , Femenino , Fluvoxamina/administración & dosificación , Demencia Frontotemporal/complicaciones , Demencia Frontotemporal/fisiopatología , Fructosa/administración & dosificación , Fructosa/farmacología , Humanos , Persona de Mediana Edad , Inhibidores Selectivos de la Recaptación de Serotonina/administración & dosificación , Topiramato , Resultado del TratamientoRESUMEN
Vitamin B12 deficiency causes a wide range of hematological, gastrointestinal, psychiatric and neurological disorders. Hematological presentation of cobalamin deficiency ranges from the incidental increase of mean corpuscular volume and neutrophil hypersegmentation to symptoms due to severe anemia, such as angor, dyspnea on exertion, fatigue or symptoms related to congestive heart failure, such as ankle edema, orthopnea and nocturia. Neuropsychiatric symptoms may precede hematologic signs and are represented by myelopathy, neuropathy, dementia and, less often, optic nerve atrophy. The spinal cord manifestation, subacute combined degeneration (SCD), is characterized by symmetric dysesthesia, disturbance of position sense and spastic paraparesis or tetraparesis. The most consistent MRI finding is a symmetrical abnormally increased T2 signal intensity confined to posterior or posterior and lateral columns in the cervical and thoracic spinal cord. Isolated peripheral neuropathy is less frequent, but likely overlooked. Vitamin B12 deficiency has been correlated negatively with cognitive functioning in healthy elderly subjects. Symptoms include slow mentation, memory impairment, attention deficits and dementia. Optic neuropathy occurs occasionally in adult patient. It is characterized by symmetric, painless and progressive visual loss. Parenteral replacement therapy should be started soon after the vitamin deficiency has been established.
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Sistema Nervioso/patología , Deficiencia de Vitamina B 12/complicaciones , Vitamina B 12/sangre , Trastornos del Conocimiento/sangre , Trastornos del Conocimiento/etiología , Humanos , Enfermedades del Nervio Óptico/sangre , Enfermedades del Nervio Óptico/etiología , Enfermedades del Sistema Nervioso Periférico/sangre , Enfermedades del Sistema Nervioso Periférico/etiología , Degeneración Combinada Subaguda/sangre , Deficiencia de Vitamina B 12/sangre , Deficiencia de Vitamina B 12/psicología , Deficiencia de Vitamina B 12/terapiaRESUMEN
Mutations in the Presenilin 2 gene (PSEN2) represent the less frequent genetic cause of familial Alzheimer's disease (FAD). Only eight PSEN2 mutations, reported in approximately 27 families, satisfied strict criteria of pathogenicity. We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with severe executive dysfunction and myoclonic tremor, associated with memory loss. Brain SPECT study showed an early hypoperfusion of the frontal cortex. We confirmed the pathogenicity of PSEN2 p.Met239Ile mutation and its heterogeneous phenotypic expression. The modulating effect of the Apolipoprotein E and Prion Protein gene polymorphisms on the phenotypic variability was not confirmed.
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Enfermedad de Alzheimer/genética , Isoleucina/genética , Metionina/genética , Mutación/genética , Presenilina-2/genética , Enfermedad de Alzheimer/complicaciones , Enfermedad de Alzheimer/diagnóstico , Trastornos del Conocimiento/etiología , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Estudios de Asociación Genética , Humanos , Trastornos del Lenguaje/etiología , Imagen por Resonancia Magnética , Persona de Mediana Edad , Tomografía Computarizada de Emisión de Fotón ÚnicoRESUMEN
Semantic dementia (SD) is a neurodegenerative disease belonging to the spectrum of frontotemporal dementia that presents with loss of memory for words and prevalent left temporal pole atrophy. Behavioral disorders, particularly obsessive-compulsive symptoms, are frequent during the course of the disease. We describe a patient presenting with late-onset typical obsessive-compulsive disorder (OCD) that lasted for 10 years as an isolated condition before developing clinical and neuroimaging features of SD. This case alerts clinicians that late-onset OCD may be a psychiatric presentation of a neurodegenerative disorder such as frontotemporal dementia and requires an accurate diagnostic work-up.
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Degeneración Lobar Frontotemporal/fisiopatología , Trastorno Obsesivo Compulsivo/diagnóstico , Edad de Inicio , Degeneración Lobar Frontotemporal/diagnóstico por imagen , Humanos , Italia , Masculino , Persona de Mediana Edad , Trastorno Obsesivo Compulsivo/fisiopatología , RadiografíaRESUMEN
Disulfiram and γ-hydroxybutyric acid (GHB) are used to treat alcohol dependence and may both increase dopamine brain levels and modulate GABAergic transmission. We describe a patient affected by bipolar disorder (on valproate as mood-stabilizing treatment) and alcohol dependence who developed a disulfiram-induced hypomanic episode and in whom the switch from disulfiram to GHB induced recurrent convulsive seizures, not responsive to treatment with diazepam, and psychosis. Seizures and psychiatric symptoms ceased after GHB discontinuation. We outline the deregulation of the neurotransmitter systems (GABAergic and dopaminergic networks) that are involved in these drug-drug interactions and that might be responsible for both psychosis and generalized tonic-clonic seizures resistant to standard treatments.