Movement disorders, dystonia and chorea: Case

Clinical case of an 8-year-old boy with known dystonic cerebral palsy who presents with status dystonicus, covering the recognition and triage of the emergency, the creatine kinase and rhabdomyolysis surveillance, the hunt for a precipitant, the escalation ladder from benzodiazepine and enteral anti-dystonia drugs through sedation and ventilation to intrathecal baclofen, the acute dystonic reaction as a contrasting emergency, and the family communication, dystonia action plan, and long-term functional management.

paediatric neurology long case3 min readVerification in progress

Prompt

An 8-year-old boy with known dyskinetic cerebral palsy and severe generalised dystonia is brought to the emergency department by his parents after 12 hours of escalating, painful, sustained dystonic spasms of his trunk and limbs. He is distressed, tachycardic at 130 beats per minute, and his respiratory rate is 36 with reduced chest wall excursion. He is non-verbal and communicates by vocalisation and facial expression. His home medications include oral baclofen and trihexyphenidyl, which have been unchanged. His parents report that he had a fever and reduced oral intake for two days. His creatine kinase on admission is 18,000 units per litre.

Summary and immediate impression

This boy has status dystonicus, the most severe form of dystonia, and it is a life-threatening emergency. The escalating, painful, sustained dystonic spasms over 12 hours, the tachycardia, the reduced chest wall excursion, and the creatine kinase of 18,000 units per litre marking significant rhabdomyolysis, together demand immediate triage to intensive care. He is non-verbal, so the assessment must read his pain and distress as real, and the two-day fever and reduced intake point to an infective precipitant. [6]

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References5Show ledger

[6]Allen NM, Lin JP, Lynch T, King MD Status dystonicus: a practice guide. Dev Med Child Neurol, 2014.PMID 24304390
[7]Vogt LM, Yang K, Tse G, et al Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus. Mov Disord, 2024.PMID 38619077
[8]Harvey AR, Baker LB, Reddihough DS, Scheinberg A, Williams K Trihexyphenidyl for dystonia in cerebral palsy. Cochrane Database Syst Rev, 2018.PMID 29763510
[9]Bohn E, Goren K, Switzer L, Falck-Ytter Y, Fehlings D Pharmacological and neurosurgical interventions for individuals with cerebral palsy and dystonia: a systematic review update and meta-analysis. Dev Med Child Neurol, 2021.PMID 33772789
[10]Fong AT, Jacob JG, Carroll B, Fernando SL Acute dystonic reaction mimicking angioedema secondary to metoclopramide ingestion. Emerg Med Australas, 2021.PMID 33873238