Cognitive and behavioral profiles of pediatric surgical candidates with frontal and temporal lobe epilepsy.

BACKGROUND: We aimed to prospectively analyze memory and executive and social cognitive functioning in patients with drug-resistant frontal lobe epilepsy (FLE) and temporal lobe epilepsy (TLE) with focal lesions and isolate the impact of intellectual ability on specific deficits. METHODS: A neuropsychological evaluation was performed in 23 children with FLE, 22 children with TLE, and 36 healthy pediatric controls (HCs). Patients in the epilepsy groups had a range of lesions, including low-grade epilepsy-associated tumors (LEAT), focal cortical dysplasia (FCD) type II, and mesial temporal sclerosis (MS). RESULTS: There were no significant differences between children with FLE and TLE regarding memory, executive, or social cognitive functioning. General Ability Index (GAI) was a predictor of memory, executive function, and social cognition scores and was influenced by age at onset, duration of epilepsy, and number of antiepileptic drugs (AEDs) prescribed at the time of assessment. Working Memory Index scores of patients with TLE, which measure verbal mnesic processing, were significantly lower than those of HCs and patients with TLE. The greatest differences in both clinical groups compared to HCs were recorded in cognitive executive functions, and patients with FLE had lower scores in this domain. Regarding behavioral executive functions, patients with TLE presented impaired emotional control and impulse inhibition and patients with FLE exhibited decreased flexibility. CONCLUSION: Consistent with previous research, our findings provide further detailed evidence of small differences in cognitive performance among children with FLE and TLE. These differences emerge on analysis of the factors with which deficits are associated.

Psychiatric symptoms in a woman with chorea-acanthocytosis.

UNLABELLED: Chorea-acanthocytosis is an uncommon neurodegenerative disorder, usually with a low rate of progression. It is characterized by Huntington disease-like involuntary movements, cognitive decline, behavioral changes, seizures and polyneuropathy. Chorea-acanthocytosis belongs to the group of neuroacanthocytosis syndromes, a group of genetically defined diseases associated with progressive degeneration of the basal ganglia and peripheral red blood cell acanthocytes. The onset of the disease is variable in its manifestations and psychiatric symptoms may dominate the clinical picture. CASE REPORT: A 48-year-old woman with a history of seizures since age 35 developed behavioral and affective changes that led to her referral to our mental health unit. She had an unsteady gait, motor clumsiness, emotional instability and impulsivity. Personality changes related with medical illness were diagnosed despite a normal neurological survey. Subsequent development of choreic involuntary movements, evidence of striatal atrophy on MRI and detection of acanthocytes in a peripheral blood smear allowed diagnosis. The role of the basal ganglia in psychiatric manifestations and the pathophysiology of chorea-acanthocytosis are discussed.

Síntomas psiquiátricos en una enferma de corea-acantocitosis / Psychiatric symptoms in a woman with chorea-acanthocytosis

La corea-acantocitosis es un raro trastorno neurodegenerativo de curso lentamente progresivo, caracterizado por movimientos involuntarios semejantes a la corea de Hungtinton, deterioro cognitivo, cambios en la conducta, crisis convulsivas y polineuropatía. Pertenece al grupo de las neuroacantocitosis, enfermedad es genéticamente definidas, en las que se asocia la degeneración progresiva de los ganglios de la base y la presencia de acantocitos en sangre periférica. La forma de inicio es heterogénea pudiendo ser los síntomas psiquiátricos su primera manifestación. Caso clínico: mujer de 48 años que comenzó con crisis convulsivas a los 35 años y aparición posterior de cambios de conducta y afectivos que motivaron la consulta en salud mental. Presentaba alteración en la marcha, torpeza motora, inestabilidad emocional e impulsividad y fue diagnosticada de cambio de personalidad debido a enfermedad médica, aunque los primeros estudios neurológicos resultaron negativos.La evolución posterior con aparición de movimientos coreicos, atrofia del núcleo estriado en RMN y detección de acantocitos en sangre periférica posibilitaron el diagnóstico. Se discute el papel de los ganglios basales en las manifestaciones psiquiátricas y la fisiopatología de la enfermedad (AU)

Chorea-acanthocytosis is an uncommon neurodegenerative disorder, usually with a low rate of progression. It is characterized by Huntington disease-like involuntary movements, cognitive decline, behavioral changes, seizures and polyneuropathy. Chorea-acanthocytosis belongs to the group of neuroacanthocytosis syndromes, a group of genetically defined diseases associated with progressive degeneration of the basal ganglia and peripheral red blood cellacanthocytes. The onset of the disease is variable in its manifestations and psychiatric symptoms may dominate the clinical picture. Case report: A 48-year-old woman with a history of seizures since age 35 developed behavioral and affective changes that led to her referral to our mental health unit. She had an unsteady gait, motor clumsiness, emotional instability and impulsivity. Personality changes related with medical illness were diagnosed despite a normal neurological survey. Subsequent development of choreic involuntary movements, evidence of striatal atrophy on MRI and detection of acanthocytes in a peripheral blood smear allowed diagnosis. The role of the basal ganglia in psychiatric manifestations and the pathophysiology of chorea-acanthocytosis are discussed (AU)

Aspectos neuropsiquiátricos de la parálisis supranuclear progresiva: análisis de un caso / Neuropsychiatric aspects of progressive supranuclear palsy: Case report

La parálisis supranuclear progresiva (PSP) es una enfermedad neurodegenerativa de etiología desconocida descrita por primera vez en 1964 por Steele, Richardson y Olszewsy. Cursa con inestabilidad postural prominente como síntoma de comienzo, seguida posteriormente de parálisis supranuclear de la mirada vertical y sintomatología parkinsoniana como bradicinesia y rigidez. Incluye deterioro cognitivo y trastornos neuropsiquiátricos. En este trabajo se describe el caso de una paciente que tras ser vista por varios especialistas es derivada a Salud Mental por síndrome depresivo, siendo finalmente diagnosticada como PSP. A pesar de la importancia de los aspectos neuropsiquiátricos en el cuadro clínico de la PSP, estos han sido descritos de forma menos detallada en la literatura que los síntomas neurológicos. Cabe recordar que los ganglios basales desarrollan un papel muy importante en la regulación de las emociones, el ánimo, la motivación y la cognición, además del conocido respecto al control motor. El diagnóstico temprano de la PSP es difícil, las quejas iniciales suelen ser vagas, inespecíficas e inducen a error, es muy frecuente que estos pacientes sean diagnosticados erróneamente como depresivos. Un mayor conocimiento de la enfermedad que permita realizar un diagnóstico temprano puede prevenir tratamientos con medicaciones inútiles y llevar a cabo las intervenciones necesarias. Revisaremos los aspectos diferenciales psicopatológicos y cognoscitivos de la PSP en relación con otras enfermedades neurodegenerativas, prestando especial atención a la apatía como síntoma y su diferenciación con lo depresivo (AU)

Progressive supranuclear palsy (PSP) is a neurodegenerative disease of unknown etiology, first described in 1964 by Steele, Richardson and Olszewsy. It presents with prominent postural instability as an onset symptom, followed by vertical supranuclear gaze palsy and Parkinsonian symptomatology, such as bradykinesia and rigidity. It also includes cognitive impairment and neuropsychiatric disorders. This paper describes the case of a patient, who after being evaluated by several specialists was referred due to a depressive syndrome to our mental health service, and was finally diagnosed with PSP. Despite the importance of neuropsychiatric aspects in the clinical manifestation of PSP, these have been less described in the literature than the neurological symptoms. Basal ganglia have an important role in the regulation of emotions, mood, motivation, and cognition, as well as in motor control. Early diagnosis of PSP is difficult, and as initial complaints are often vague, unspecific and misleading, it is common for these patients to be misdiagnosed as depression. Increased awareness of the disease to enable an early diagnosis to be made can prevent unnecessary treatment with medications and lead to appropriate interventions. The differential psychopathological and cognitive aspects of the PSP in relation to other neurodegenerative diseases will be reviewed, with special attention to apathy as symptom and its differentiation with depression (AU)

Implicaciones neuropsiquiátricas de las citopatías mitocondriales. A propósito de un caso / Neuropsychiatric implications of mitochondrial cytopathies. A case report

Las citopatías mitocondriales son enfermedades raras cuya fisiopatología común consiste en una disfunción del metabolismo energético mitocondrial. Comprometen especialmente a los tejidos muscular y cerebral debido a su alto metabolismo oxidativo, por lo que frecuentemente se les denomina «encefalomiopatías». Caso clínico. Mujer de 28 años, que a los 20 inicia un cuadro caracterizado por dificultad en la marcha y ptosis palpebral, diagnosticada de síndrome Kearns-Sayre. Es seguida ambulatoriamente tras presentar un episodio ansioso-depresivo. Método. Se realiza una exploración neuropsicológica con el fin de evaluar la situación cognitiva. Se administraron la Escala de Inteligencia de Wechler para Adultos (WAIS-III), el Test Barcelona Revisado y el Test de Clasificación de tarjetas de Wisconsin. Resultados. Los resultados revelan deterioro cognitivo a nivel general, que aparece invariablemente en todas las pruebas administradas. También se encuentran déficits específicos coherentes con los encontrados en estudios anteriores. Discusión. El interés del caso estriba en la creciente importancia de la exploración neuropsicológica en trastornos neurológicos que cursan con deterioro cognitivo y alteraciones psiquiátricas. Permite objetivar el grado de deterioro cognitivo global, así como dilucidar las funciones que de manera específica se encuentran afectadas. Ofrece un análisis detallado y ayuda a establecer una correlación entre los déficits y las áreas cerebrales implicadas, por lo que es un instrumento muy útil como complemento de las pruebas de neuroimagen. El perfil obtenido es de gran utilidad para elaborar programas de rehabilitación centrados en la estimulación y la recuperación de funciones alteradas. Se discute también su relación con los trastornos afectivos (AU)

Mitochondrial cytopathies are unusual diseases of which there are more than 50 variations. Their common pathophysiology involves a mitochondrial energy metabolism malfunction. Muscular and brain tissue are particularly affected due to their high oxidative metabolism, hence they are usually identified as «encephalomyopathies». Case report. A 28 year old woman, who, at the age of 20, presented with a gait disorder and drooping upper eye-lid, was diagnosed with Kearns-Sayre syndrome. After an anxious-depressive episode, she was followed up in the Outpatients of a Mental Health Centre with psychiatric and psychological treatment. Methods. Neuropsychological assessments were made to explore the cognitive state. We applied the Wechsler Adults Intelligence Scale (WAIS-III), the Revised Barcelona Test and the Wisconsin Card Sorting. Results. General cognitive impairment was found in all the tests administered. Specific cognitive impairments were also found which fitted in with those found in previous studies. Discussion. This case report emphasizes the increasing importance of neuropsychological assessment in neurological syndromes with cognitive impairments and psychiatric disturbances. It allows us to objectify the overall level of cognitive impairment and to establish a correlation between the deficits and the brain areas involved. The neuropsychological profile is very useful in future rehabilitation programs, focusing on stimulation and recovery of the affected cognitive areas. We discussed also her relationship with mood disorders (AU)