Cerebral X-linked adrenoleukodystrophy: follow-up with magnetic resonance imaging

Abstract

-Objective: To re p o rt a case of childhood cerebral X-linked adre n o l e u k o d y s t rophy (X-ADL), emphasizing the magnetic resonance imaging (MRI) findings at initial evaluation and at the follow-up. Case report: Five year-old boy, who was asymptomatic, presented with diagnosis of X-ADL for MRI evaluation. The initial brain MRI showed a focal area of enhancement at the splenium of the corpus calosum. One year later, the follow-up MRI showed a pro g ression of the corpus calosus lesion, as well as other lesions in the parietal and occipital lobes. Conclusion: The brain MRI follow-up of patients with X-ADL is important to show the progression of the lesions.KEY WORDS: childhood cerebral X-linked adrenoleukodystrophy, magnetic resonance imaging.Adrenoleucodistrofia ligada ao X: acompanhamento por ressonância magnética RESUMO -Objetivo: Relatar um caso de adre n o l e u c o d i s t rofia ligada ao X (X-ADL), enfatizando os achados de ressonância magnética (RM) na avaliação inicial e no seguimento. Descrição do caso: Paciente masculino de cinco anos de idade, assintomático, com diagnóstico de X-ADL, apresentou-se para estudo de RM. O exame inicial mostrou uma área focal de realce no esplênio do corpo caloso. Após um ano, a RM de seguimento evidenciou aumento da lesão do corpo caloso, assim como novas lesões nos lobos occipitais e parietais. Conclusão: O seguimento por RM de pacientes com X-ADL é importante para a demonstração da progressão das lesões. PALAVRAS-CHAVE: adrenoleucodistrofia ligada ao X, ressonância magnética.X-linked adre n o l e u k o d y s t rophy (X-ADL) is a genetically determined rare metabolic pro g ressive disord e r, which involves the central nervous system (CNS), a d renal cortex and testicles. It is related to accumulation of very-long-chain fatty acids in plasma and tissues, caused by a deficient peroxisomal membrane p rotein. The clinical manifestation has a wide variety within two major forms; the childhood cerebral form, causing a severe disability that leads to death early; and the adre n o m y e l o n e u ro p a t h y, a milder adult form witch involves mainly the spinal cord and peripheral nerves, presenting a slow pro g ression with better prognostic. The bone marrow transplantation (BMT) is the only effective long-term treatment for X-ADL disease, however must be perf o rmed at an early stage of cerebral disease 1 , 2 . Brain magnetic re sonance imaging (MRI) is an essential tool to evaluate patients with X-ADL. It allows early detection of CNS lesions, and the serial follow-up aids to predict the prognosis of the disease and monitoring therapeutic interventions. MRI changes are caused by an i n f l a m m a t o ry demyelization process resulting in prolongation of T1 and T2 relaxation times. Areas of involvement are best seen as foci of hyperintense signal on T2-wheighted images, with or without enhancement after contrast administration 3 . Loes et al. 4 suggested a severity score for brain MRI of patients with X-ADL based on the location and extension of the lesions,...

MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy

“…5 There are few reports describing brain MRI findings in asymptomatic patients with ALD, especially with sequential follow-up imaging. 11 The recent addition of ALD to the Recommended Universal Screening Panel has given renewed urgency to understand early brain lesion characteristics in presymptomatic patients. 12 We provide a description of brain lesion characteristics with serial MRI follow-up, including lesion volumetric analysis, in a cohort of asymptomatic boys with ALD.…”

Adrenoleucodistrofia ligada ao X: correlação entre o escore de Loes e parâmetros do tensor de difusão

“…Brain MRI in X-ALD patients is important to demonstrate the progression of the lesions (24) . Conventional MRI is highly sensitive to detect white matter abnormalities, but specificity is low.…”

Adrenoleucodistrofia Ligada Ao X Em Uma Criança: Relato De Caso E Revisão De Literatura

“…A monitorização de pacientes assintomáticos pode ser feita através de métodos de neuroimagem não invasiva (RM) associada à eletroencefalograma. Assim, o envolvimento cerebral pode ser identificado em fases iniciais da X-ALD, possibilitando terapias como a TMO e, consequentemente, aumentando a sobrevida do doente 22 . Além disso, o aconselhamento genético pode ser considerado benéfico na demonstração, aos familiares, de que outros filhos homens da mãe do paciente podem vir a desenvolver X-ALD, bem como suas irmãs serem prováveis carreadoras do gene.…”