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March 10, 2020; 94 (10) Resident & Fellow Section

Clinical Reasoning: A 16-year-old boy with progressive cognitive decline and gait impairment

Qing Ke, Xiaoyan Liu, Kang Wang, Zhongqin Chen, Ming Liu, Xiaohua Ma, Lihua Yu, Benyan Luo
First published February 28, 2020, DOI: https://doi.org/10.1212/WNL.0000000000009062
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    Figure Photograph and brain MRI of the patient and Sanger sequencing of the patient and his parents

    (A) Recurrent rash. Brain MRI detected multifocal lesions affecting white matter, specifically revealing low signals in T1-weighted imaging (B) and high signals in T2-weighted imaging (C) and T2-weighted fluid-attenuated inversion recovery sequence (D), but no enhancement (E). The patient (F) had homozygous mutations in DOCK8 (c.3152delG and c.5175G>C). Both his mother (G) and father (H) showed heterozygous mutations in DOCK8 (c.3152delG and c.5175G>C).

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