More Than Just a Torticollis: A Klippel-Feil Syndrome Case Report

• Autor(a) principal: Lorenzo, Joana
• Data de Publicação: 2021
• Outros Autores: Maio, Inês, Soares, Ana Rita, Tavares, Susana, Fortuna, Ana
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://ojs.pjp.spp.pt/article/view/19475
• topic: Case reports

Introduction:  Although often benign, the torticollis may be the manifestation of a serious disease, such as Klippel-Feil syndrome. We report a pediatric clinical case of an isolated form of Klippel-Feil syndrome. Case Report: A six-month-old male infant, whose previous history is restricted to a sacrococcygeal dimple, developed limitation of cervical mobility, presenting with short neck, low implementation of the posterior hairline and scoliosis, with normal psychomotor development. The was no improvement after conservative treatment. The medullary magnetic resonance revealed cervical scoliosis, rudimentary disc spaces, fusion of the posterior elements and hydromelic dilatation of the ependymal canal. No other changes were found in the multidisciplinary evaluation and no disease was found in the parents. Discussion: Klippel-Feil is rare. It can manifest either isolated or associated to other malformation, such as skeletal, cardiac or nephro-urological. If this syndrome is suspected, both patient and his family should be evaluated by a multidisciplinary team. Key-words: Pediatric. Torcicollis. Klippel-Feil syndrome