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Título

KLIPPEL-FEIL SYNDROME PRESENTING WITH SPASTIC PARAPARESIS: A CASE REPORT

Apresentação do caso único

Male patient, 15 years old, with complex heart disease and significant scoliosis as the only relevant history, referred to child neurology due to progressive weakness of the lower limbs, predominantly on the left side, which began 6 months prior. Additionally, the patient reported progressive difficulty in performing neck movements and shoulder elevation. On physical examination, the patient presented a scissor gait performed only with bilateral support, reduced strength, hyperreflexia, signs of pyramidal release and altered sensitivity in the lower limbs. Initial investigations included imaging tests such as Magnetic Resonance Imaging and Computed Tomography of the spine, which revealed fusion of multiple cervical vertebrae (C2-C4 and C5-C6), fusion of thoracic vertebrae (T5-T6), as well as other local bone anomalies and displacement of the spinal cord at the thoracic level. In addition to the malformations described, further investigation revealed renal agenesis. Based on the clinical and radiological findings, the diagnosis was Klippel-Feil syndrome. Following surgical intervention, the patient experienced significant improvement in both motor and sensory functions.

Discussão

Klippel-feil syndrome (KFS) is characterized by synostosis involving one or more cervical vertebrae. Among its diversity of presentations, KFS type III also includes thoracic fusions such as the one presented. The condition affects approximately 1 in 40,000 live births, with a predominance in females (60%). Recent studies suggest a genetic etiology, mainly involving the GDF6, MEOX1, GDF3 and MYO18B genes. Clinical manifestations involve changes directly related to the spine, such as scoliosis and shortening of the neck. Spinal cord compression can also cause significant neurological symptoms, including paresis/plegia and changes in sensitivity, as evidenced in the case described. Malformations of several other systems may also be associated, such as cardiovascular and renal malformations reported in this case. Clinical and imaging findings are usually sufficient for diagnosis. Supportive treatment can provide symptomatic relief, but a surgical approach is considered for significant neurological complications.

Comentários finais

Klippel-feil syndrome (KFS) is a rare condition whose malformations can trigger important neurological signs and symptoms. It should be considered as a differential diagnosis for early recognition, especially in frequent complaints such as scoliosis or gait disturbances.

Referências

Barreto GP, Rodrigues MM, Belai GM, Santos GRdS, Tomé TM, Martins DI, et al. Síndrome de Klippel-Feil: uma abordagem diagnóstica, evolução clínica e revisão. Braz J Health Rev. 2023;6(5):21608-21617. DOI: 10.34119/bjhrv6n5-191.

Frikha R. Klippel-Feil syndrome: a review of the literature. Clin Dysmorphol. 2020 Jan;29(1):35-37. doi: 10.1097/MCD.0000000000000301. PMID: 31577545.

Frikha R. Klippel-Feil syndrome: a review of the literature. J Assoc Prevent Paediatr Serbia. 2024;10(1-2):107-110.

Samartzis D, Kalluri P, Herman J, Lubicky JP, Shen FH. "Clinical triad" findings in pediatric Klippel-Feil patients. Scoliosis Spinal Disord. 2016 Jun 27;11:15. doi: 10.1186/s13013-016-0075-x. PMID: 27355085; PMCID: PMC4922059.

Palavras Chave

Klippel-feil syndrome; Spastic Paraparesis; scoliosis