Publications

Background: Klippel-Feil disease is a condition characterized by a defect in the spine, consisting of the fusion or non-separation of two or more vertebrae of the cervical tract. It affects 1 in every 50,000 newborns, and the pathogenesis remains unknown to date, although the role of certain genes that are involved in segmentation processes is being studied. A single case of a genetic Myosin Heavy Chain 3 (MYH3) mutation is described here. Affected patients are typically distinguished by a relatively short neck, which leads to limited mobility, a low hairline, and obesity; they may also experience various other health issues. The common occurrence of comorbidities further diminishes the quality of life of these young individuals.

Methods: The following case report describes the synergistic effect of Incobotulinum toxin type A and physiotherapy in a 7-year-old patient with MYH3 mutation-related Klippel-Feil syndrome (KFS) complicated by bilateral paraplegia to improve the spasticity condition of the lower limbs. To assess improvements over time, the patient underwent rating scales to determine spasticity (Modified Ashworth Scale: MAS), the neck’s range of motion (ROM), and muscle tone by using MyotonPRO®. Specifically, measurements were taken on the day of the first medical examination (T0), the month after the injection and the startup of therapeutic exercise (T1), at three months (T2), and then once a month for a total of 6 months (T3, T4, and T5).

Results: This therapeutic approach resulted in highly satisfactory outcomes for the child’s well-being, which was maintained until the sixth month and was accompanied by a complete absence of any side effects.

Keywords: Klippel-Feil syndrome, myosin heavy chain 3 mutation, MYH3 mutation, spine defects, spasticity, botulinum toxin type A, incobotulinum, therapeutic exercise, physiotherapy

KFS is frequently an asymptomatic condition; however, it can be linked to a variety of anomalies. The most debilitating of these are often neurological issues, which, although rare, can affect the quality of life and normal development of the patients involved. In cases with additional manifestations, treatment is typically symptomatic, whereas in asymptomatic patients, the emphasis should be on avoiding sudden neck movements to prevent spinal cord injury. Specifically, our case report deals with a unique and rare instance of KFS in a child with a mutated MYH3 gene and neurological manifestations such as paraparesis. This case illustrates how a combined treatment approach of therapeutic exercise and BTX-A injection into the BF muscles can provide benefits in the absence of side effects, resulting in a child with a lifestyle that is as similar as possible to that of her peers.