RESUMEN
OBJECTIVE: This review aimed to synthesize the experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and the experiences of their families. INTRODUCTION: Leukodystrophies are metabolic diseases caused by genetic mutations. There are multiple forms of the disease, varying in age of onset and symptoms. The progression of leukodystrophies worsens central nervous system symptoms and significantly affects the lives of patients and their families. INCLUSION CRITERIA: Qualitative studies on the experiences of patients with leukodystrophies and their family members were included. These experiences included treatments such as enzyme replacement therapy and hematopoietic stem cell transplantation; effects of tracheostomy and gastrostomy; burdens on the family, coordinating care within the health care system, and family planning due to genetic disorders. This review considered studies in any setting. METHODS: MEDLINE (Ovid), CINAHL Plus (EBSCOhost), APA PsycINFO (EBSCOhost), Scopus, and MedNar databases were searched on November 18, 2022. Study selection, critical appraisal, data extraction, and data synthesis were conducted in accordance with the JBI methodology for systematic reviews of qualitative evidence, and synthesized findings were evaluated according to the ConQual approach. RESULTS: Eleven studies were eligible for synthesis, and 45 findings were extracted corresponding with participants' voices. Of these findings, 40 were unequivocal and 5 were credible. The diseases in the included studies were metachromatic leukodystrophy and adrenoleukodystrophy; no studies were identified for patients with Krabbe disease and their families. These findings were grouped into 11 categories and integrated into 3 synthesized findings, including i) providing care by family members and health care providers as physical symptoms progress, which relates to the effects of the characteristics of progressive leukodystrophies; ii) building medical teamwork to provide appropriate support services, comprising categories related to the challenges experienced with the health care system for patients with leukodystrophy and their families; and iii) coordinating family functions to accept and cope with the disease, which included categories related to family psychological difficulties and role divisions within the family. According to the ConQual criteria, the second synthesized finding had a low confidence level, and the first and third synthesized findings had a very low confidence level. CONCLUSIONS: The synthesized findings of this review provide evidence on the experiences of patients with metachromatic leukodystrophy or adrenoleukodystrophy and their families. These findings indicate that there are challenges in managing a patient's physical condition and coordinating the health care system and family functions. REVIEW REGISTRATION: PROSPERO CRD42022318805. SUPPLEMENTAL DIGITAL CONTENT: A Japanese-language version of the abstract of this review is available [ http://links.lww.com/SRX/A49 ].
Asunto(s)
Adrenoleucodistrofia , Familia , Leucodistrofia de Células Globoides , Leucodistrofia Metacromática , Humanos , Leucodistrofia Metacromática/genética , Leucodistrofia Metacromática/psicología , Leucodistrofia Metacromática/terapia , Adrenoleucodistrofia/genética , Adrenoleucodistrofia/terapia , Adrenoleucodistrofia/psicología , Leucodistrofia de Células Globoides/genética , Leucodistrofia de Células Globoides/terapia , Leucodistrofia de Células Globoides/psicología , Familia/psicología , Investigación Cualitativa , Trasplante de Células Madre Hematopoyéticas/psicología , Terapia de Reemplazo EnzimáticoRESUMEN
OBJECTIVE: X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder characterized by progressive demyelination ranging from mild myelopathic forms (adrenomyeloneuropathy [AMN]) to severe cerebral variants (adult cerebral adrenoleukodystrophy [ACALD]). The aim of this study was to compare cognitive function in adult-onset X-ALD phenotypes. METHODS: Cognitive function in various domains (intelligence, attention, memory, executive function, and processing speed) was assessed in 172 adults (117 with AMN, 30 with arrested ACALD, and 25 with acute ACALD) using comprehensive neuropsychological batteries. Phenotype differences were examined by analyses of variance. RESULTS: X-ALD phenotypes significantly differed in nonverbal intelligence, sustained attention, verbal encoding, nonverbal recognition, and processing speed (ps < 0.050). No group differences emerged regarding verbal intelligence, verbal retrieval and recognition, and executive function (ps > 0.050). Specifically, patients with acute ACALD showed severe cognitive deficits compared to AMN and normal data, with largest effects on processing speed. Contrary, cognition was overall intact in patients with AMN, independent of sex and corticospinal tract involvement, and those with arrested ACALD showed mild cognitive dysfunction, particularly in verbal encoding and processing speed. INTERPRETATION: Cerebral demyelination in patients with X-ALD causes white matter dementia, mainly characterized by an extreme slowdown in processing speed associated with deficits in attention and learning. Most patients with AMN show intact cognitive function. Future prospective, longitudinal studies with more sensitive imaging techniques are required to clarify whether early mild cognitive dysfunction found in some patients with AMN may be associated with subtle myelin abnormalities that do not yet appear as white matter lesions on cerebral MRI (cMRI) but have the potential to serve as early predictors of later cerebral progression. ANN NEUROL 2021;90:266-273.
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Adrenoleucodistrofia/diagnóstico por imagen , Adrenoleucodistrofia/psicología , Trastornos del Conocimiento/diagnóstico por imagen , Trastornos del Conocimiento/psicología , Cognición/fisiología , Fenotipo , Adolescente , Adrenoleucodistrofia/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , Trastornos del Conocimiento/epidemiología , Estudios Transversales , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Adulto JovenAsunto(s)
Adrenoleucodistrofia/diagnóstico , Encéfalo/diagnóstico por imagen , Miembro 1 de la Subfamilia D de Transportador de Casetes de Unión al ATP/genética , Adrenoleucodistrofia/complicaciones , Adrenoleucodistrofia/fisiopatología , Adrenoleucodistrofia/psicología , Trastorno por Déficit de Atención con Hiperactividad/psicología , Trastorno del Espectro Autista/psicología , Mutación del Sistema de Lectura , Humanos , Imagen por Resonancia Magnética , Masculino , Espasticidad Muscular/etiología , Espasticidad Muscular/fisiopatología , Paresia/etiología , Paresia/fisiopatología , Adulto JovenRESUMEN
OBJECTIVE: Early diagnosis is critical in achieving the best outcome following hematopoietic stem cell transplantation (HSCT) for X-linked adrenoleukodystrophy (X-ALD). We used a questionnaire to gather detailed clinical information and information regarding the anxieties of patients' families using the registry system for X-ALD. METHODS: We and the patients' families established the registry system for X-ALD in Japan. We created a questionnaire and distributed it to the patients' families. RESULTS: Questionnaire data from 28 patients were collected. The median age at enrollment was 14.5â¯years. The most common type of X-ALD was the childhood cerebral form (22 patients, 78.6%). The median age at symptom onset was 7.4â¯years. Frequently reported initial observations were behavior or character changes (46.4%), gait disturbances (42.9%), strabismus (39.3%), reduced academic ability (32.1%), failing vision (21.4%), a positive family history (21.4%), clumsiness (17.9%), hearing disturbances (17.9%), convulsions (10.7%), and suspected psychiatric disorders (10.7%). The median duration from symptom onset to diagnosis was 12â¯months. The families of 12 patients (42.9%) with X-ALD who received HSCT were satisfied regardless of its effectiveness. Common concerns of patients' families were worries regarding heritability of X-ALD (78.6%), present symptoms (57.1%), frequent hospital visits (42.9%), problems at school or work (42.9%), economic issues (35.7%), and limited information regarding X-ALD (32.1%). CONCLUSION: This is the first study clarifying the clinical characteristics of X-ALD and the concerns of patients' families using the registry system. Investigation of rare diseases using registry systems is very valuable for the understanding of such conditions.
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Adrenoleucodistrofia/diagnóstico , Familia/psicología , Adolescente , Adrenoleucodistrofia/epidemiología , Adrenoleucodistrofia/psicología , Adrenoleucodistrofia/terapia , Adulto , Niño , Femenino , Humanos , Japón , Masculino , Persona de Mediana Edad , Sistema de Registros , Adulto JovenRESUMEN
Hematopoietic stem cell transplant (HSCT) is the only accepted treatment capable of halting the progression of X-linked cerebral adrenoleukodystrophy (CALD). While survival and neurological outcomes have been described, there is little information regarding the quality of life (QoL) of transplanted patients with CALD. This analysis is a cross-sectional study of QoL in 16 males diagnosed with CALD who underwent HSCT at a single institution. Each child or parent proxy completed subscales from the Neuro-QoL and the PROMIS Pediatric Profile Instrument representing physical, mental, and social health domains. Descriptive statistics summarized the demographic characteristics and QoL subscale T-scores, Spearman Rho correlations identified the relationships among the variables, and Mann-Whitney tests examined group differences between those with pre-HSCT Loes scores <10 and those with pre-HSCT Loes scores ≥10. The median age of respondents at the time of transplant was 8 years at HSCT (5-14) with a median of 5 years since HSCT (0.5-11). Scores from the selected QoL subscales were similar to healthy peers, though those with pre-HSCT Loes scores ≥10 had lower mobility, upper extremity function, peer interaction, and higher scores for anxiety. Although HSCT has the capability of halting progression of CALD, those with pre-HSCT Loes scores ≥10 after HSCT are at-risk for poor QoL. Longitudinal monitoring is necessary to further appreciate the factors affecting QoL among boys with CALD after HSCT, and how this may be improved.
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Adrenoleucodistrofia/psicología , Adrenoleucodistrofia/terapia , Trasplante de Células Madre Hematopoyéticas/psicología , Trasplante de Células Madre Hematopoyéticas/tendencias , Calidad de Vida/psicología , Adolescente , Adrenoleucodistrofia/diagnóstico , Niño , Preescolar , Estudios Transversales , Trasplante de Células Madre Hematopoyéticas/métodos , Humanos , Masculino , Padres , Proyectos PilotoRESUMEN
RATIONALE: The respective involvements of both the thalamus and exhibitionism in cerebral X-linked adrenoleukodystrophy (X-ALD) have not been reported. PATIENT CONCERNS: An 11-year-old boy initially presented with exhibitionism and progressive neurobehavioral symptoms. He subsequently developed transient urinary and fecal incontinence, and an unwillingness to eat or communicate. DIAGNOSES: We conducted contrast-enhanced brain magnetic resonance imaging (MRI), which revealed symmetrical altered signal intensities in bilateral frontal white matter, the basal ganglia, and dorsal thalami, as well as a peripheral rim of contrast enhancement. Diagnosis of adolescent cerebral X-ALD was confirmed on the basis of next generation genetic sequencing analysis. INTERVENTIONS: We initiated the patient on hormonal replacement therapy. OUTCOMES: We observed rapidly progressive neurologic deterioration in this patient, and the boy fell into a vegetative state 10 months after discharge. LESSONS: We recommend that physicians should not disregard X-ALD in patients with isolated psychiatric symptoms, including hypersexual behavior. The combination of detailed clinical evaluation, MRI, and next generation genetic sequencing can expedite the diagnostic process of atypical variant of X-ALD.
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Adrenoleucodistrofia/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Exhibicionismo/etiología , Adrenoleucodistrofia/genética , Adrenoleucodistrofia/patología , Adrenoleucodistrofia/psicología , Trastorno por Déficit de Atención con Hiperactividad/etiología , Trastorno por Déficit de Atención con Hiperactividad/patología , Encéfalo/patología , Niño , Exhibicionismo/patología , Humanos , Imagen por Resonancia Magnética , Masculino , NeuroimagenRESUMEN
Inborn errors of metabolism (IEM) comprise an assorted group of inherited diseases, some of which are due to disordered lysosomal or peroxisomal function and some of which might be improved following hematopoietic cell transplantation (HCT). In these disorders the onset in infancy or early childhood is typically accompanied by rapid deterioration, resulting in early death in the more severe phenotypes. Timely diagnosis and immediate referral to an IEM specialist are essential steps in optimal management. Treatment recommendations are based on the diagnosis, its phenotype, rate of progression, prior extent of disease, family values, and expectations, and the risks and benefits associated with available therapies, including HCT. International collaborative efforts are of utmost importance in determining outcomes of therapy for these rare diseases, and have improved those outcomes significantly over the last decades. In this review, we will focus on the neurodevelopmental outcomes after HCT in IEM, providing an international perspective on progress, limitations, and future directions.
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Trasplante de Células Madre Hematopoyéticas , Errores Innatos del Metabolismo/terapia , Trastornos del Neurodesarrollo/fisiopatología , Adrenoleucodistrofia/complicaciones , Adrenoleucodistrofia/fisiopatología , Adrenoleucodistrofia/psicología , Adrenoleucodistrofia/terapia , Humanos , Leucodistrofia de Células Globoides/complicaciones , Leucodistrofia de Células Globoides/fisiopatología , Leucodistrofia de Células Globoides/psicología , Leucodistrofia de Células Globoides/terapia , Leucodistrofia Metacromática/complicaciones , Leucodistrofia Metacromática/fisiopatología , Leucodistrofia Metacromática/psicología , Leucodistrofia Metacromática/terapia , Errores Innatos del Metabolismo/complicaciones , Errores Innatos del Metabolismo/fisiopatología , Errores Innatos del Metabolismo/psicología , Mucopolisacaridosis I/complicaciones , Mucopolisacaridosis I/fisiopatología , Mucopolisacaridosis I/psicología , Mucopolisacaridosis I/terapia , Trastornos del Neurodesarrollo/etiología , Trastornos del Neurodesarrollo/psicologíaRESUMEN
This research was conducted to describe Taiwanese mothers' lived experience of caring for their child diagnosed with adrenoleukodystrophy. Analysis of eight interviews by Colaizzi's method revealed six themes: (1) difficulty confirming the diagnosis; (2) powerlessness toward unsatisfactory treatment; (3) struggles with decisions around carrier testing; (4) guilt about being a carrier; (5) support from family, other parents, and religion; and (6) lack of integrated resources and support. The results suggest the need to raise public and physician awareness about adrenoleukodystrophy via the media and medical education. A central organization to provide parents with comprehensive information is needed.
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Adrenoleucodistrofia/psicología , Madres/psicología , Apoyo Social , Adrenoleucodistrofia/diagnóstico , Adrenoleucodistrofia/genética , Adulto , Niño , Femenino , Culpa , Necesidades y Demandas de Servicios de Salud , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Investigación Cualitativa , TaiwánAsunto(s)
Adrenoleucodistrofia/diagnóstico , Miembro 1 de la Subfamilia D de Transportador de Casetes de Unión al ATP , Transportadoras de Casetes de Unión a ATP/genética , Adrenoleucodistrofia/patología , Adrenoleucodistrofia/psicología , Angiografía Cerebral , Medios de Contraste , Resultado Fatal , Ácidos Grasos/sangre , Humanos , Angiografía por Resonancia Magnética , Imagen por Resonancia Magnética , Masculino , Trastornos de la Memoria/etiología , Trastornos Mentales/etiología , Examen Neurológico , Pruebas Neuropsicológicas , Adulto JovenAsunto(s)
Adrenoleucodistrofia/complicaciones , Adrenoleucodistrofia/tratamiento farmacológico , Antimaníacos/uso terapéutico , Trastorno Bipolar/tratamiento farmacológico , Ácido Valproico/uso terapéutico , Adrenoleucodistrofia/psicología , Trastorno Bipolar/etiología , Humanos , Masculino , Adulto JovenRESUMEN
The purpose of this study was to assess mental health in parents of patients with the childhood cerebral form of X-linked adrenoleukodystrophy (CCALD) and to investigate factors relating to psychological problems in order to improve clinical management and quality of life. Sixteen fathers and 21 mothers of patients with CCALD completed a battery of psychological examinations including the Beck Depression Inventory second edition (BDI-II), the General Health Questionnaire 60 (GHQ60), and the State-Trait Anxiety Inventory (STAI). Three fathers and 11 mothers showed high scores on the BDI-II, suggesting that they were in a depressive state. Depression in the mothers was serious as compared with previous reports. Six fathers and 11 mothers were considered to be in a state of neurosis, according to the results of the GHQ60. Four fathers and 8 mothers showed high levels of anxiety on the STAI. Health and social status of the mothers correlated with their mental health, and younger mothers with young patients tended to be more depressed. Thus, parents of patients with CCALD have a high risk of depression and neurosis. Understanding the mental state of these parents and improvements in the social support system including mental counseling, home nursing care, supports in workplace and community are necessary to prevent and treat psychological problems. Especially, early intervention for mental health problems should be provided for younger mothers with few years since the child's diagnosis.
Asunto(s)
Adrenoleucodistrofia/psicología , Depresión/psicología , Trastornos Neuróticos/psicología , Padres/psicología , Adaptación Psicológica , Adulto , Ansiedad/etiología , Ansiedad/psicología , Cuidadores/psicología , Depresión/etiología , Salud de la Familia , Femenino , Cuidados en el Hogar de Adopción/psicología , Humanos , Masculino , Persona de Mediana Edad , Trastornos Neuróticos/etiología , Relaciones Padres-Hijo , Inventario de Personalidad , Escalas de Valoración Psiquiátrica , Factores de Riesgo , Índice de Severidad de la Enfermedad , Apoyo Social , Estrés Psicológico/complicaciones , Estrés Psicológico/psicologíaRESUMEN
X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, biochemically characterized by deficient beta-oxidation of saturated very long chain fatty acids (VLCFA). The consequent accumulation of these fatty acids in different tissues and in biological fluids is associated with a progressive central and peripheral demyelination, as well as with adrenocortical insufficiency and hypogonadism. Seven variants of this disease have been described, cerebral childhood being the most frequent. The recommended therapy consists of the use of the glyceroltrioleate/glyceroltrierucate mixture known as Lorenzo's Oil (LO), combined with a VLCFA-poor diet, but only in asymptomatic patients will this treatment prevent the progression of the symptomatology. In the present study we evaluated the biochemical course of patients with cerebral childhood (CCER) and asymptomatic clinical forms of X-ALD treated with LO associated with a VLCFA-restricted diet. We observed that hexacosanoic acid plasma concentrations and hexacosanoic/docosanoic ratio were significantly reduced in CCER patients during treatment when compared with diagnosis. Hexacosanoic acid plasma level was significantly reduced when compared with that at diagnosis and achieved the normal levels only in asymptomatic patients under LO treatment. In asymptomatic patients the magnitude of hexacosanoic acid decrease was higher than that of the CCER patients. These results show the good biochemical response of LO treatment in asymptomatic X-ALD patients. It is possible to suppose that this could be correlated with the prevention of the appearance of neurological signals in this group of patients treated with LO.
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Adrenoleucodistrofia/sangre , Adrenoleucodistrofia/dietoterapia , Ácidos Erucicos/uso terapéutico , Ácidos Grasos/sangre , Trioleína/uso terapéutico , Adrenoleucodistrofia/psicología , Niño , Dieta , Combinación de Medicamentos , Ácidos Grasos/metabolismo , Femenino , Humanos , Hipercinesia/etiología , Hipercinesia/psicología , Discapacidades para el Aprendizaje/etiología , Discapacidades para el Aprendizaje/psicología , Masculino , Convulsiones/etiología , Convulsiones/psicologíaRESUMEN
Adrenoleukodystrophy is an inherited disease characterized by progressive neurodegeneration with rapid deterioration to a vegetative state. Of the treatment modalities tried to date, BMT is the only one with the potential for cure. However, the high rate of morbidity and mortality associated with allogeneic transplant makes it necessary to try out novel measures to improve the outcome in these patients. We report here a case where we used CD34+ stem cell selection for allogeneic unrelated-donor BMT in a patient with adrenoleukodystrophy.
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Adrenoleucodistrofia/terapia , Antígenos CD34/metabolismo , Trasplante de Médula Ósea/fisiología , Trasplante de Células Madre , Adrenoleucodistrofia/psicología , Preescolar , Humanos , Pruebas de Inteligencia , Imagen por Resonancia Magnética , Masculino , Resultado del TratamientoRESUMEN
Adrenoleukodystrophy (ALD) is a rare, X-linked inherited metabolic disease, which is associated with the accumulation of very long chain fatty acids (VLCFA) in the adrenal glands and in the central and peripheral nervous systems. ALD leads to leukoencephalic myeloneuropathy and hypoadrenalism. The two most frequent phenotypes are infantile ALD and adrenomyeloneuropathy (AMN), which account for 80% of cases. Adult-onset ALD is rare (1-3%). The cases reported so far have had a variable course and have often been characterised by prevalently psychiatric symptoms. We describe the case of a 37-year-old man affected by ALD whose symptoms first appeared a few years earlier in the form of worsening personality and memory disturbances, and were followed by the onset of spastic paraparesis and amyotrophy indicative of the concomitant presence of AMN. The neuropsychological alterations configure a picture of mainly frontal cortico-subcortical dementia, which is supported by magnetic resonance findings.
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Adrenoleucodistrofia/fisiopatología , Adrenoleucodistrofia/psicología , Demencia/fisiopatología , Demencia/psicología , Lóbulo Frontal/fisiopatología , Adrenoleucodistrofia/tratamiento farmacológico , Adulto , Edad de Inicio , Humanos , Imagen por Resonancia Magnética , Masculino , Pruebas Neuropsicológicas , Resultado del TratamientoRESUMEN
The effects of bone marrow transplantation (BMT) in X-linked childhood adrenoleukodystrophy (ALD) are described in four Japanese patients. Two older patients, 10-year-old boys with IQ 60 and difficulty in school, had favourable results. IQ levels and MRI findings were generally maintained after BMT. One patient showed improvement of gait disturbance. They have both attended ordinary schools after BMT, although a learning disorder persists. On the other hand, two other younger patients with a rapid course and indeterminate IQ at BMT showed deterioration of neurological functions. Indication for BMT seems to be a maintained IQ level, preferably higher than 80, since it seems to be difficult to normalize IQ level after BMT. Younger patients have higher risk of developing a rapidly progressive form of the disease. Identification of presymptomatic boys, and serial and careful follow-up by neuropsychological and neuroradiological studies, are essential prerequisites to successful BMT in X-ALD.
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Adrenoleucodistrofia/terapia , Trasplante de Médula Ósea , Adrenoleucodistrofia/genética , Adrenoleucodistrofia/psicología , Niño , Ligamiento Genético , Humanos , Inteligencia , Japón , Masculino , Cromosoma XRESUMEN
In our society, the words "dying" and "school" are not a natural fit. Recently they have occurred together all too frequently. When this happens, horror, fear, and confusion often prevail. The death of a child is always a tragedy, but handled well, it can bring positive growth and maturity to the school community. The death of a class member, teacher, or student affects the class in a way that no other event does. Accidental deaths, shootings, and other violent deaths cause multiple and complex problems within the school community. These dramatic and tragic events are present in the media and leave people with a violent concept of death. However, death sometimes comes in slow and lingering ways. In this article, the case study of a student named "Tyler" illustrates the painful but positive experiences of his class. This type of death--of a school-age child--brings a prolonged grief and struggle for students, teachers, and the school community.
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Adrenoleucodistrofia/enfermería , Hospitales para Enfermos Terminales/métodos , Servicios de Enfermería Escolar/métodos , Cuidado Terminal/métodos , Adrenoleucodistrofia/psicología , Actitud Frente a la Muerte , Niño , Resultado Fatal , Humanos , Estudiantes/psicologíaRESUMEN
Adrenoleukodystrophy is an inherited X-linked peroxisomal disorder that preferentially affects the adrenal cortex, testes, and brain and may occur at almost any age. Psychiatric symptomatology is present in many of the adult-onset cases reported in the literature and may be one of the earliest manifestations of the disease. The majority of patients with psychiatric disturbances have signs and symptoms typical of mania. Psychosis and cognitive impairment may also be prominent. Metabolic diseases such as adrenoleukodystrophy are probably underrecognized as a cause of psychiatric illness. Increased awareness of these disorders will lead to accurate diagnosis, appropriate treatment selection, and genetic counseling.
Asunto(s)
Adrenoleucodistrofia/psicología , Trastornos Mentales/diagnóstico , Trastornos Mentales/etiología , Enfermedad de Addison/diagnóstico , Adolescente , Adrenoleucodistrofia/diagnóstico , Adrenoleucodistrofia/epidemiología , Adrenoleucodistrofia/genética , Adrenoleucodistrofia/terapia , Adulto , Edad de Inicio , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Trastornos Mentales/psicología , Persona de Mediana EdadRESUMEN
BACKGROUND: It is not commonly appreciated that patients with adrenoleukodystrophy (ALD) can first present in adulthood with psychiatric symptoms. METHOD: This case study involved a 31-year-old man who was referred for a neuropsychiatric assessment of tardive dyskinesia and treatment-resistant psychosis. Upon neurologic examination, he was found to have spasticity, marked hyperreflexia with clonus, and bilateral Babinski signs. T2-weighted magnetic resonance imaging demonstrated severe white matter disease. Metabolic screening revealed abnormalities of very long chain fatty acids consistent with the diagnosis of ALD. These results prompted us to review the literature on late-onset ALD with attention to (1) the nature of the associated psychiatric and neurologic symptoms, (2) the neuroimaging abnormalities associated with this disorder, and (3) treatment considerations. RESULTS: Individuals with adult-onset ALD may initially present with psychiatric symptomatology. Most commonly, these patients manifest signs of mania including disinhibition, impulsivity, increased spending, hypersexuality, loudness, and perseveration. ALD patients will often have upper motor neuron findings on neurologic examination. Despite the name of the disease, patients with ALD may not have clinical evidence of adrenal dysfunction. Neuroimaging reveals diffuse, confluent white matter lesions that typically originate in the parieto-occipital region. Both neuroleptic and anticholinergic medications may result in significant side effects with little resolution of the underlying psychiatric symptoms. CONCLUSION: This case study and review of the literature illustrate the importance of performing neurologic and radiological examinations on all psychiatric patients with chronic illnesses. We emphasize the importance of reexamining and reimaging patients who are not responding to standard treatment. The clinical problem of "treatment resistance" should be seen as an indication that other diagnoses, such as an underlying metabolic disorder, need to be considered.