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)

Mitochondrial disease: beyond etiology unknown.

Mitochondrial dysfunction is now recognized as a relatively common cause of degenerative disease in children. Mutations in either the mitochondrial or the nuclear genome that cause errors in the synthesis of enzymes essential for energy production and metabolism lead to a wide variety of pediatric problems, including developmental delays, sensorimotor impairment, seizures, diabetes, and organ failure. This article reviews the role of mitochondria in health and illness, discusses the clinical aspects of mitochondrial dysfunction, describes the experiences of three children with mitochondrial disease, and presents nursing strategies for affected families.

A patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency.

We report on a boy with normal mental development who had muscle hypotonia and congenital dislocation of the hip and knee joints. Histochemical and biochemical examinations of his muscle specimen revealed no succinate dehydrogenase (SDH) activity. Since the NADH cytochrome c reductase and cytochrome c oxidase activities were normal, we concluded that he had an isolated SDH deficiency. Our patient provides further evidence for the clinical variability of this disorder.

Personality profiles of mothers of children with mitochondrial disorders.

Mothers of children with mitochondrial disorders, inherited neurodegenerative diseases, are faced with a frightening diagnosis and numerous demands associated with caring for these children. The psychological profile of mothers whose children carry a mitochondrial disorder is unknown. Forty-two mothers of children with mitochondrial disorders were interviewed and administered the Minnesota Multiphasic Personality Inventory--Second Edition (MMPI-2). Fifty-six per cent of the mothers had scores in the pathological range on three or more scales, most notably on Hypochondriasis, Hysteria and Paranoia scales. The MMPI-2 profile is associated with situational anxiety and stress or may be associated with carrier status characteristics. Whatever the cause, future studies need to determine whether supportive services can reduce the level of anxiety and stress in mothers of children with these disorders.

A specialized apperception test for ambulatory-impaired adolescents.

A specialized apperception test for physically impaired adolescents was developed, and a pilot was conducted using ten nonimpaired and ten impaired adolescents. Ten cards depicting various scenes with physically impaired male and female models were designed to elicit themes that may be particularly relevant for this adolescent population. Two raters evaluated how well each card elicited issues identified in the literature as pertinent to physically challenged adolescents.