Frontiers in Neurology (Apr 2023)

Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD

  • Siqi Dong,
  • Siqi Dong,
  • Ya Tuo,
  • Zihan Qi,
  • Zihan Qi,
  • Yuanfeng Zhang,
  • Xiaoni Liu,
  • Xiaoni Liu,
  • Ping Huang,
  • Xiangjun Chen,
  • Xiangjun Chen,
  • Xiangjun Chen

DOI
https://doi.org/10.3389/fneur.2023.1118076
Journal volume & issue
Vol. 14

Abstract

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The PANK2 gene, which encodes mitochondrial pantothenate kinase 2 protein, is the disease-causing gene for pantothenate kinase-associated neurodegeneration (PKAN). We report a case of atypical PKAN with autism-like symptoms presenting with speech difficulties, psychiatric symptoms, and mild developmental retardation. Magnetic resonance imaging (MRI) of the brain showed the typical “eye-of-the-tiger” sign. Whole-exon sequencing revealed PANK2 p.Ile501Asn/p.Thr498Ser compound heterozygous variants. Our study highlights the phenotypic heterogeneity of PKAN, which can be confused with autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) and requires careful clinical identification.

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