Clinical evaluation of childhood cerebral adrenoleukodystrophy with balint’s symptoms

Kubota, Keiichi; Kawai, Hiroki; Takashima, Shigeo; Shimohata, Takayoshi; Otsuki, Mika; Ohnishi, Hiroyuki; Shimozawa, Nobuyuki

doi:10.1016/j.braindev.2020.11.010

Cited by 5 publications

(9 citation statements)

References 17 publications

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“…13 Visual signs were thought to occur late in the clinical course of cerALD, 21 but more recent reports have shown that visual disturbances are common initial symptoms with the most frequent ophthalmological abnormality being strabismus. 22,23 It has been previously stated that the demyelination of central visual pathway without optic nerve involvement is the cause of early visual impairment in cerALD. 24 In our patient, optic nerve involvement occurred early before the onset of cognitive decline.…”

Section: Discussionmentioning

confidence: 99%

Untitled

2021

Journal of Pediatric Neurology

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X-linked adrenoleukodystrophy (ALD) is a leukodystrophy characterized not only by progressive loss of myelin in the central nervous system due to dysmyelination, but also by acute, subacute, or chronic inflammatory demyelination. This results in the phenotypic variability of cerebral ALD (cerALD), which is independent of the genotype. In this article, we reported a fulminant presentation with fluctuating encephalopathy and visual loss in a patient with childhood onset cerALD. Brain MRI showed symmetric confluent occipito-temporal demyelination with severe disruption of the blood-brain barrier and prechiasmal optic neuropathy. The patient's cerebral spinal fluid (CSF) demonstrated an elevated IgG index, myelin basic proteins, and oligoclonal bands. Within 48 hours of receiving immunomodulating therapy, the patient's symptoms of psychomotor slowing, visual impairment, and areflexia partially resolved. High plasma C26:0 levels and high ratios of C24/22 and C26/22 were diagnostic of ALD. It has been shown that environmental factors play an important role in the inflammatory demyelination responsible for the severe phenotypes of cerALD.

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Section: Discussionmentioning

confidence: 99%

Untitled

2021

Journal of Pediatric Neurology

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“…We chose to use recall of symptom duration since diagnosis is not typically associated with the onset of symptoms, and others have used this measure in order to have a sense of individual rates of progression. 25 Treatment group (placebo, Lorenzo's Oilcompliant, Lorenzo's Oilnoncompliant) was controlled in the analysis for detecting change in the outcomes. Therefore, significant (adj P < .05) change in this study indicates that on average a variable (eg, postural sway eyes closed feet apart) significantly worsens over time regardless of treatment group.…”

Section: Discussionmentioning

confidence: 99%

“…In the analysis, we factor in symptom duration; however, symptom duration is approximate based on a participant's ability to recall onset. We chose to use recall of symptom duration since diagnosis is not typically associated with the onset of symptoms, and others have used this measure in order to have a sense of individual rates of progression 25 . Treatment group (placebo, Lorenzo's Oil – compliant, Lorenzo's Oil – noncompliant) was controlled in the analysis for detecting change in the outcomes.…”

Section: Discussionmentioning

confidence: 99%

Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression

Keller

Eloyan

Raymond

et al. 2021

J of Inher Metab Disea

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Current outcomes used to evaluate adrenomyeloneuropathy are limited by rater bias, not sensitive to preclinical changes, and require years to decades to detect disease progression. Quantitative outcomes are needed that detect meaningful change in a short time period over a broad range of disability. The study aim was to track sensorimotor outcomes in adults with adrenomyeloneuropathy and evaluate differences in progression between men and women. This prospective observational cohort study analyzes data collected annually in the Phase III study of adults with adrenomyeloneuropathy. Outcomes include postural sway in four static standing conditions, great‐toe vibration, hip strength, walking velocity, timed up‐and‐go, and 6‐minute walk distance. Linear mixed model analysis was used to detect change in the outcomes in 2 years, correcting for age, sex, disability, symptom duration, and treatment across the cohort. Modeling was repeated for each sex to evaluate differences. Power computations were carried out by sex and for the full dataset. Sixty‐one men and 87 women participated. Average age, 46 ± 12 years; Expanded Disability Status Scale, 3 (1‐6.5); symptom duration, 10.8 ± 9.4 years. The cohort showed significant worsening in all standing conditions (P < .001), sensation (P = .0223) and strength (P = .001); but more stability in walking with only velocity (P < .0337) significantly declining. For each sex, postural sway declines significantly in all conditions (P < .01) except for eyes closed feet together for women. Strength declines significantly by sex for hip flexion (P < .03). Sex‐specific significant decline is seen in walking (velocity P = .0276; distance P = .0072) for men only. Quantitative measures of postural sway, sensation strength, and walking are effective measures of adrenomyeloneuropathy progression in 2 years.

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“…A su vez se conoce que el gen ABCD1 se ubica concretamente en el cromosoma X, y también se conoce que, las mujeres disponen de dos cromosomas X en cada célula del cuerpo, y los hombres disponen de un cromosoma X y un cromosoma Y en cada célula, por lo tanto cuando se genera una copia de la variante del gen ABCD1 es la necesaria para generar ALD-X en hombres. Mientras que las mujeres que tienen una copia de este gen inactivo y una copia del gen en estado activo podrían ser las portadoras, aun cuando no se manifiesta el trastorno como tal pero podría a su vez dar paso a generar síntomas de ADL en la adultez (12).…”

Section: Introductionunclassified

“…Los síntomas de esta patología dependerán de la edad en la que se desarrolle, por lo general nunca inicia hasta antes de los 3 años (12). Dos de los principales síntomas que aparecen al inicio son problemas en el comportamiento y dificultades en el aprendizaje y es por esta misma razón que a menudo estos pacientes son diagnosticados por trastorno de déficit de atención e hiperactividad (12). Estos síntomas pueden persistir durante meses o incluso más pero posterior se añade sintomatología que va a sugerir que hay una enfermedad adyacente mucho más grave.…”

Section: Introductionunclassified

Adrenoleucodistrofia ligada al cromosoma X. Reporte de caso y revisión de la literatura

Cueva

Tinitana

2023

Tesla rev. cient.

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Esta revisión, presenta un caso clínico poco frecuente en el contexto actual, como lo es la adrenoleucodistrofia. La adrenoleucodistrofia (ADL) es un raro trastorno peroxisomal el cual está ligado al cromosoma X y que presenta múltiples manifestaciones que a menudo son progresivas y que no pueden detectarse antes o durante el nacimiento dejando que las manifestaciones de la enfermedad se vayan desarrollando con el paso del tiempo. Descripción del caso: El caso se trata de un paciente masculino de 13 años de edad que desde los 6 años fue llevado a consulta por sus padres por presentar cambios bruscos en su desarrollo con perdida en el tono muscular y deterioro cognitivo progresivo. Durante la primera consulta se realizan, exámenes complementarios con el afán de encontrar la causa del problema, siendo referido a múltiples especialidades, si bien en un inicio no hubo un diagnóstico claro. Los resultados realizados en Alemania a partir de un cribado (ADN) confirmó el diagnóstico de la enfermedad y en el examen se detalla que el gen se lo transmitió por herencia desde la familia materna. Conclusión: Un diagnostico precoz ayudará a tratar de forma temprana la patología, además de una monitorización a la familia que es portadora del gen ayudará a determinar la existencia previa de posibles nuevos casos, además de la necesidad de revisión y actualización de la literatura sobre la patología.

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Clinical evaluation of childhood cerebral adrenoleukodystrophy with balint’s symptoms

Cited by 5 publications

References 17 publications

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Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression

Adrenoleucodistrofia ligada al cromosoma X. Reporte de caso y revisión de la literatura

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