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Título

GPI DBS IN PATIENT WITH DYT28 ASSOCIATED WITH KLIPPEL-FEIL SYNDROME: A ONE YEAR FOLLOW-UP CASE PRESENTATION:

RESUMO

A 14-year-old female with history of congenital scoliosis, Klippel–Feil Syndrome (KFS), Sprengel’s anomaly and generalized dystonia status post bilateral Globus Pallidus Internus (GPi) Deep Brain Stimulation (DBS). Patient was diagnosed with congenital scoliosis, KFS and Sprengel's anomaly at age 1. At age 6, she developed focal left lower extremity dystonia, that progressed to trunk, both upper extremities and oromandibular region over the years. Patient was posteriorly diagnosed at age 11 with KMT2B-related dystonia (DYT28) associated to KFS. It was confirmed by genetic testing that revealed microdeletion on chromosome 19 between the 19q13.11q13.12 bands, consistent with the cytogenetic location of KMT2B (OMIM 606834). She was whel-chair bound for most part of her day, presented with severe spasmodic dysphonia and responded partially to levodopa. She underwent bilateral GPi DBS at age 13 and returned to our clinic for a 1-year postoperative follow up, presenting a 22% improvement in the Burke-Fahn-Marsden Dystonia Rating Scale when compared to pre operative assessment, especially in neck, trunk and lower extremities. We also noticed a significant improvement on gait, which was reflected in a subjective improvement of functionality and quality of life (QoL). DISCUSSION: Mutations in KMT2B were recently associated with an early-onset, progressive and often complicated dystonia (DYT28), commonly presenting with an initial lower-limb dystonia that progresses to generalized dystonia. Among generalized early-onset dystonias, DYT28 may account for up to 10% of the cases. DBS is indicated for patients with generalized or segmental dystonia, refractory to drug treatments. This surgery improves about 42% of the clinical conditions in DYT-KMT2B cases, significantly improving motor symptoms. KFS is a congenital syndrome marked by the fusion of two or more vertebrae. It may be associated with other disorders, but the co-occurrence of typical KMT2B-related dystonia has not been reported in association with KFS to our knowledge. This case was previously presented by the authors and now we present the post DBS follow-up. FINAL CONSIDERATIONS: This is a patient status post GPi DBS as stated in the literature, there was a relevant improvement on patient’s symptoms, especially on gait. More studies are necessary to better understand the benefits of this procedure and to get broader and more concrete results.

Palavras Chave

KMT2B-related dystonia; Deep Brain Stimulation; Klippel-Feil Syndrome