Neuropediatrics 2018; 49(04): 246-255
DOI: 10.1055/s-0038-1645884
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Multiple Causes of Pediatric Early Onset Chorea—Clinical and Genetic Approach

Lubov Blumkin
1   Pediatric Movement Disorders Clinic, Wolfson Medical Center, Holon, Israel
2   Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel
3   Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel
4   Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
,
Tally Lerman-Sagie
2   Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel
3   Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel
4   Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
,
Ana Westenberger
5   Institute of Neurogenetics, University of Lubeck, Lubeck, Germany
,
Hilla Ben-Pazi
6   Pediatric Neurology Unit, Shaare Zedek Medical Center, Jerusalem, Israel
,
Ayelet Zerem
2   Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel
3   Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel
4   Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
,
Keren Yosovich
3   Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel
7   Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel
8   Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel
,
Dorit Lev
3   Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel
4   Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
7   Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel
› Author Affiliations
Further Information

Publication History

14 November 2017

01 March 2018

Publication Date:
25 May 2018 (online)

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Abstract

Objective This article elucidates a clinical and genetic approach to pediatric early-onset chorea in patients with normal neuroimaging.

Methods We retrospectively studied patients with onset hyperkinetic movement disorders. Only children with onset of chorea in the first 3 years of life were included, those with an abnormal magnetic resonance imaging (MRI) or electroencephalogram (EEG) were excluded.

We studied the movement disorder phenotype by clinical examination and by interpretation of videos and compared our data to the literature.

Results Four patients, aged 2 to 13 years, were diagnosed. Abnormal involuntary movements appeared between the ages of 6 months to 3 years in association with developmental delay. One patient has a close relative with NKX2.1-related chorea. One patient is from Iraqi-Jewish origin. Facial twitches and nocturnal dyskinetic attacks were observed in one.

The unique clinical presentation and family history enabled genetic diagnosis by molecular analysis of a specific mutation in two (NKX2.1, OPA3) and Sanger sequencing of a target gene in one (ADCY5). One patient was diagnosed by whole-exome sequencing (WES) (GNAO1).

Conclusion By carefully recording the phenotype and genetic background, a single gene can be suspected in some cases. In the rest, we suggest multigene panels or WES study.