Journal of Pediatric Neurology
DOI: 10.1055/s-0040-1722619
Case Report

PCDH12-Related Movement Disorder

Chaithanya Reddy
1  Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Pradip Paria
1  Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Singanamalla Bhanudeep
1  Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Vikas Bhatia
2  Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Arushi G. Saini
1  Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
› Author Affiliations
Funding None.

Abstract

Protocadherin 12 (PCDH12) is a member of a nonclustered group of cell surface proteins. Mutations in the PCDH12 gene can cause varied phenotypes ranging from epilepsy and movement disorders to congenital malformations and calcifications in neuroimaging. We discuss here a 14-year-old boy with a movement disorder that mimicked dyskinetic cerebral palsy in the outpatient department; however, exome sequencing revealed a homozygous premature stop codon in exon 1 of the PCDH12(−) gene. The case highlights the importance of careful clinical examination to look for the features that do not match an assigned neurological syndrome and the need for follow-up neuroimaging to look for any progressive changes in all cases of unexplained movement disorder and intellectual impairment.

Authors' Contributions

C.R., P.P., and S.B. prepared the initial draft of manuscript, reviewed the literature, and revised the manuscript for intellectual content. V.B. prepared the neuroimaging inputs and revised the manuscript for intellectual content. A.G.S. contributed in conceptualization, critical review of the manuscript, and edited the final version of manuscript. All the authors approve the manuscript for submission.




Publication History

Received: 11 October 2020

Accepted: 08 December 2020

Publication Date:
17 February 2021 (online)

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