[X-linked adrenoleukodystrophy with an atypical radiological pattern]. / Adrenoleucodistrofia ligada al X con patron radiologico atipico.

ABSTRACT

INTRODUCTION: X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. It is due to a mutation in the ABCD1 gene. The loss of functioning of ABCD1 triggers ineffective beta oxidation of very long-chain fatty acids, which gives rise to an accumulation of these fatty acids. The typical alteration revealed in neuroimaging scans in the cerebral form is symmetrical periventricular demyelination with posterior location. CASE REPORT We report the case of a 10-year-old boy with right spastic hemiparesis and subacute cognitive impairment. Magnetic resonance imaging of the brain showed symmetrical involvement of the white matter in the left frontoparietotemporal region, and calcifications were observed in the computerised axial tomography scan. X-ALD was confirmed by means of the elevated levels of very long-chain fatty acids, and a pathogenic variant was found in the ABCD1 gene. CONCLUSIONS: Symmetrical demyelination with calcifications has rarely been reported in X-ALD, and these findings could delay diagnosis. This exceptional presentation should always be taken into consideration in children with subacute onset of motor symptoms and cognitive or behavioural regression.

RESUMEN

TITLE Adrenoleucodistrofia ligada al X con patron radiologico atipico.Introduccion. La adrenoleucodistrofia ligada al X (ALD-X) es la enfermedad peroxisomica mas frecuente. Se debe a una mutacion en el gen ABCD1. La perdida de la funcion de ABCD1 provoca una betaoxidacion inefectiva de los acidos grasos de cadena muy larga, lo que provoca la acumulacion de estos acidos grasos. La alteracion tipica en la neuroimagen en la forma cerebral es la desmielinizacion periventricular simetrica y de localizacion posterior. Caso clinico. Niño de 10 anos, con hemiparesia espastica derecha y deterioro cognitivo subagudo. La resonancia magnetica cerebral mostro afectacion asimetrica de la sustancia blanca en la region frontoparietotemporal izquierda, y en la tomografia axial computarizada se visualizaban calcificaciones. Se confirmo ALD-X mediante la elevacion de los niveles de acidos grasos de cadena muy larga, y se encontro una variante patogenica en el gen ABCD1. Conclusiones. La desmielinizacion asimetrica con calcificaciones raramente se ha descrito en la ALD-X, y estos hallazgos podrian retrasar el diagnostico. Esta presentacion excepcional se deberia considerar siempre en niños con inicio subagudo de sintomas motores y regresion cognitiva o del comportamiento.