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

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

JOURNAL=Frontiers in Neurology

VOLUME=Volume 14 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1118076

DOI=10.3389/fneur.2023.1118076

ISSN=1664-2295

ABSTRACT=PANK2 gene, which encodes mitochondrial pantothenate kinase 2 protein, is the culprit 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. While 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.