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

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

doi:10.3389/fneur.2023.1118076

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

Front Neurol. 2023 Apr 17:14:1118076. doi: 10.3389/fneur.2023.1118076. eCollection 2023.

Authors

Siqi Dong^#^{1

2}, Ya Tuo^#³, Zihan Qi^{1

2}, Yuanfeng Zhang⁴, Xiaoni Liu^{1

2}, Ping Huang⁵, Xiangjun Chen^{1

2

6}

Affiliations

¹ Department of Neurology, Huashan Hospital and Institute of Neurology, Fudan University, Shanghai, China.
² National Center for Neurological Disorders, Shanghai, China.
³ Department of Biochemistry and Physiology, Shanghai University of Medicine and Health Sciences, Shanghai, China.
⁴ Department of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
⁵ Department of Forensic Pathology, Academy of Forensic Science, Shanghai, China.
⁶ Human Phenome Institute, Fudan University, Shanghai, China.

^# Contributed equally.

Abstract

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.

Keywords: PANK2 mutation; atypical PKAN; autism spectral disorder (ASD); case report; pantothenate kinase-associated neurodegeneration (PKAN).

Publication types

Case Reports

Grants and funding

This study was supported by 2020 Medical Service and Support Capacity Improvement Project: Construction of the Cohort-Based Multidisciplinary Accurate Diagnosis and Treatment Platform for Neurological Autoimmune and Infectious Diseases, Shanghai Fudan University Education Development Foundation and State Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, and Fudan University.