Work

Neuroleptic malignant syndrome in an adolescent with the GNAO1 mutation movement disorder phenotype: a challenging diagnosis

Year: 2025

Type: article

Abstract: Introduction: Neuroleptic malignant syndrome (NMS) is a rare and life-threatening condition resulting from exposure to dopamine-blocking agents. GNAO1 mutations are a neurodevelopmental disorder associated with a hyperkinetic movement disorder, usually treated with dopamine-blocking agents. Case report: A 16-year-old adolescent, previously diagnosed with a GNAO1 dyskinetic movement disorder, and prescribed tetrabenazine, chlorpromazine and clonidine, was admitted during the summer due to nausea, fever and a slight worsening of dyskinesias. Initially, a heat stroke was assumed. A few days later, the patient manifested generalized dyskinesias, refractory hyperthermia, diaphoresis and progressive worsening of consciousness, suggesting neuroleptic malignant syndrome. Neuroleptic treatment was stopped, and the patient was started on dantrolene and admitted to the pediatric intensive care unit. The patient eventually recovered over the subsequent two months, symptomatic treatment for dyskinesias was slowly introduced, except chlorpromazine, and he was admitted to a rehabilitation center. Discussion: This case illustrates the diagnostic challenge of malignant neuroleptic syndrome in children and adolescents, particularly in patients with previous dyskinetic movement disorders treated with dopamine antagonists.

Source: Portuguese Journal of Pediatrics

DOI: 10.24875/pjp.24000014

Authors: António Levy, Miguel Coelho, Mónica Santos, Sofia Almeida, Tiago Proença dos Santos

Institutions: Centro Hospitalar Lisboa Norte, University of Lisbon, Instituto de Medicina Molecular João Lobo Antunes

Language: English

Topic: Electroconvulsive Therapy Studies

Subfield: Psychiatry and Mental health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4409140062