ArticleFrontiers in pediatrics2025
Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature.
Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- SEPTIN9 R106W in a Chinese family with hereditary neuralgic amyotrophy: phenotypic heterogeneity and rehabilitation in a pediatric case.Frontiers in genetics · 2026Article
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8 authors.
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Abstract
Aim: Parsonage-Turner syndrome, also known as neuralgic amyotrophy affects the brachial plexus and includes idiopathic (INA) and rare hereditary forms (HNA). Mutations in the Methods: We report a case of 9-year-old girl with brachial plexus neuritis who carries a Results: Patient presented with episodic intense pain and severe weakness in her right upper limb since age 5 years. Central nervous system involvement and inflammatory polyneuropathy were excluded. Neurological assessment showed weakness and muscle atrophy in the right shoulder girdle. Dysmorphic features, such as long nasal bridge, hypertelorism, and epicanthal folds, were also noted. Her father reported a similar episode in the past without investigations. Conclusion: Clinicians should consider HNA in children with asymmetric upper limb weakness and dysmorphic features, especially with a family history of upper limb neuralgia. Early diagnosis can improve long-term outcomes and avoid unnecessary tests.
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