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Anesthetic Management of a Pediatric Patient With CTNNB1-Related Neurodevelopmental Disorder: A Case Report
Ana Rita Rocha1, Conceição Cardante Santos2, Petra Alves2
1Anesthesiology and Perioperative Medicine, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Vila Real, PRT.
None:
CTNNB1-related neurodevelopmental disorder with spastic diplegia and visual defect (NEDSDV) is a rare genetic condition characterized by developmental delay, axial hypotonia, peripheral spasticity, and ophthalmologic abnormalities. Due to its phenotypic overlap with bilateral spastic cerebral palsy, NEDSDV may be underdiagnosed, and its anesthetic implications remain undocumented. We report the perioperative management of a two-year-old female with NEDSDV undergoing elective adenoidectomy and myringotomy in a hospital-based ambulatory surgical center. Anesthetic care was individualized, with emphasis on airway planning, cautious titration of anesthetic agents, and multimodal opioid-sparing analgesia. The perioperative course was uneventful, and the patient was safely discharged on the same day. Following a comprehensive literature review, no prior anesthetic reports were identified in patients with NEDSDV. To our knowledge, this case represents one of the first published anesthetic descriptions in a pediatric patient with NEDSDV and highlights key considerations for safe and effective anesthesia in this emerging clinical population.
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