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Annals of Indian Academy of Neurology
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CSF1R related leukoencephalopathy - Rare childhood presentation of an autosomal dominant microgliopathy!


1 Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India
2 Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India
3 Department of Neurointervention and Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India
4 Department of Neurochemistry, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India
5 Department of Human Genetics, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India

Correspondence Address:
Hansashree Padmanabha,
Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru - 560 029, Karnataka
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.aian_418_21

Colony-stimulating factor 1R (CSF1R)-related leukoencephalopathy is an autosomal dominant primary microgliopathy usually presents in adults with a mean age of onset at fourth decade. Cognitive decline (59%), psychiatric (44%), and motor symptoms are the most common manifestation. The youngest age at onset reported so far is 18 years. Herein, we describe a 12-year-old boy who presented with visual loss, cognitive decline and behavioural change of 1-year duration. Brain magnetic resonance imaging showed diffuse leukodystrophy with diffusion restriction and corticospinal tract involvement. Clinical exome sequencing showed novel pathogenic heterozygous nonsense variant c.1717G > T (p.Glu573Ter) in exon 12 of CSF1R gene.


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