Dados do Trabalho

Título

Decoding the Loes score: a step-by-step review of the MRI severity score for X-linked adrenoleukodystrophy

Descrição sucinta do(s) objetivo(s)

The aim of this work is to address the clinical importance of the MRI severity score for X-linked adrenoleukodystrophy (X-ALD), provide an overview of the score, its cmponents and methodology and review the cerebral anatomy commonly affected by X-ALD.

Descrição da(s) doença(s), método(s) e/ou técnica(s)

X-Linked Adrenoleukodistrophy (X-ALD) is a rare disease caused by an X-linked mutation in the ABCD1 gene, affecting the white matter (WM), adrenal cortex, and testes. Symptoms usually become apparent only after structural damage has already been established, but brain Manetic Resonance Imaging (MRI) has the ability to detect WM lesions beforehand, therefore a systematic approach to monitor disease progression is essential. In 1994, Loes DJ et al. developed an MRI scoring method for cerebral lesions in male X-ALD patients that estimates disease severity and monitors disease progression. A review of the literature available on the Loes score for X-ALD was performed alongside an extensive review of the neuroanatomy involved in X-ALD. The authors also developed a structured reporting system for easier and accurate scoring based on the evidence published by Loes DJ et al.

Discussão

The score ranges from 0 (no abnormalities) to 34 (severe abnormalities), taking into account: involvement of key neuroanatomic locations, extent of lesions and atrophy. t’s based on structural MRI findings from T2/FLAIR images, which means contrast isn’t necessary for disease monitoring. Male children carrying the genetic mutation should repeat brain MRI every 6 months up until the age of 12 years and yearly after that. The best treatment available is hematopoietic stem cell transplantation (HSCT), which is only possible when there is still limited structural involvement. Evidence has shown that patients with a score ≥ 9 have a worse response to HSCT and therefore poorer prognosis, which means the radiologist's role is fundamental in guiding patient care and life-saving treatment.

Conclusões

The radiologists role is key for the conduction of the conduction of X-ALD patients and may change the course of patient care.

Palavras Chave

mri; X-ALD; WHITE MATTER

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