Objective: To describe a case of LMNB1-related autosomal dominant leukodystrophy with unique radiological features.

Background: Autosomal dominant leukodystrophy (ADLD), caused by the duplication of the LMNB1 gene, is typically seen in adults and is characterized by pyramidal signs, cognitive decline, cerebellar ataxia, and autonomic dysfunction beginning at an early age. Distinctive MRI images of ADLD are symmetric and widespread lesions in the white matter of the brain and the cerebellar peduncles. 

Method: NA

Results: A 28-years-old male presented with a three-year history of increasing dysarthria, gait ataxia, rigidity of limbs, and dystonic posturing of the right upper limb. He had cognitive decline and behavioural abnormalities that impaired his activities of daily living.Family history was unremarkable.  Examination showed an MMSE score of 13/30, with major impairment of higher mental functions. His optic discs were pale, he had spasticity in all four limbs, hyperreflexia, autonomic and cerebellar dysfunction. MRI brain  showed T2/FLAIR hyperintensities in the subcortical, periventricular and deep white matter of both hemispheres, which extended into the posterior limb of the internal capsule, crus cerebri and pons. The SWI sequence showed the blooming artefacts in putamen, caudate, globus pallidus and substantia nigra. Whole exome sequencing revealed a heterozygous c.916C>T (p.Gln306Ter) variant in the exon-5 of the LMNB1 gene (NM_005573.4), which was later confirmed by Sanger sequencing in the patient.

Conclusion: MRI brain scans can show abnormal mineral deposits associated with LMNB1-related ADLD; a rare finding that needs to be studied in more detail.

References: 1.Schuster J, Sundblom J, Thuresson AC, Hassin-Baer S, Klopstock T, Dichgans M, Cohen OS, Raininko R, Melberg A, Dahl N. Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. Neurogenetics. 2011 Feb;12:65-72.
2.Dai Y, Ma Y, Li S, Banerjee S, Liang S, Liu Q, Yang Y, Peng B, Cui L, Jin L. An LMNB1 duplication caused adult-onset autosomal dominant leukodystrophy in Chinese family: clinical manifestations, neuroradiology and genetic diagnosis. Frontiers in molecular neuroscience. 2017 Jul 18;10:215.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-white-matter-disease-with-blooming-grey-matter/