Anesthetic management of a patient with limb-girdle muscular dystrophy 2B:CARE-compliant case report and literature review.

BACKGROUND: Limb-girdle muscular dystrophies (LGMDs) belong to few neuromuscular disorders mainly involving pelvic and shoulder girdle muscles. Also, cardiac or pulmonary complications, increased rhabdomyolysis risk when exposed to volatile anesthetics and succinylcholine may increase anesthesia related risks. However, current reports about the anesthesia management of these patients are limited. CASE PRESENTATION: We described our anesthetic management of a 36 years old woman with LGMD 2B receiving arthroscopic knee surgery. In consideration of the high risk of rhabdomyolysis, total intravenous anesthesia (TIVA) was selected for her surgery. Considering the unpredictable respiratory depression, opioid based patient-controlled intravenous analgesia was replaced with an intra-articular cocktail therapy consisting of 20 ml of 0.2% ropivacaine. Also, we reviewed the literatures on anesthetic management of LGMD through searching PubMed, in order to provide a comprehensive and safe guidance for the surgery. CONCLUSIONS: Carefully conducted general anesthesia with TIVA technique is a good choice for LGMD patients. Neuraxial anesthesia may be used if general anesthesia needs to be avoided. To warrant safe anesthesia for surgery, any decision must be well thought out during perioperative period.

Cervical Hyperextension Deformity After Sagittal Balance Correction in Patient with Congenital Limb-Girdle Myopathy: Surgical Technique and Review of Literature.

BACKGROUND: There is no gold standard surgical treatment for cervical hyperextension deformity, especially in case of muscular dystrophy. Special considerations and caution should be taken as they carry a high risk of early mortality and spinal cord injury. Only a few case reports are available in the literature. CASE DESCRIPTION: We report a case of surgical correction of an iatrogenic cervical hyperextension deformity following sagittal balance correction in a patient with congenital limb-girdle myopathy. The patient was successfully treated by posterior cervical release and fusion after verification of the range of motion, reducibility of the deformity, and absence of any positional spinal cord compression with dynamic radiographic examination and preoperative magnetic resonance imaging in the desired postoperative position. CONCLUSIONS: We suggest posterior cervical release and fusion in case of a radiologically and clinically reducible cervical hyperextension deformity under both motor and sensory spinal evoked potential monitoring. In cases of longstanding, rigid, nonreducible cervical hyperextension, laminectomy and concomitant duroplasty could be considered.

Bone marrow transplantation in dysferlin-deficient mice results in a mild functional improvement.

Dysferlinopathies are caused by mutations in the DYSF gene. Dysferlin is a protein mainly expressed in the skeletal muscle and monocytes. Cell therapy constitutes a promising tool for the treatment of muscular dystrophies. The aim of our study was to evaluate the effect of bone marrow transplantation (BMT) using the A/J Dysf(prmd) mouse model of dysferlinopathy. For that purpose, we studied dysferlin expression by western blot and/or immunohistochemistry in transplanted mice and controls. Computerized analyses of locomotion and electrophysiological techniques were also performed to test the functional improvement. We observed dysferlin expression in splenocytes, but not in the skeletal muscle of the transplanted mice. However, the locomotion test, electromyography studies, and muscle histology showed an improvement in all transplanted mice that was more significant in the animals transplanted with dysferlin⁺/⁺ cells. In conclusion, although BMT restores dysferlin expression in monocytes, but not in skeletal muscle, muscle function was partially recovered. We propose that the slight improvement observed in the functional studies could be related with factors, such as the hepatocyte growth factor, released after BMT that prevented muscle degeneration.

Mortality and morbidity associated with correction of severe cervical hyperextension.

STUDY DESIGN: Three case reports of patients with treatment of severe cervical hyperextension. OBJECTIVE: Cervical hyperextension is a rare spine deformity that is associated with myopathies. Previous reports of surgical correction have reported no major operative complications. This report outlines our experience with 3 patients who experienced significant complications. SUMMARY OF BACKGROUND DATA: The limited literature on the treatment of cervical hyperextension has good to excellent outcomes. METHODS: Three case reports are presented. RESULTS: Three cases with severe cervical hyperextension with intraoperative correction had associated morbidity and mortality. One case had a failed intubation requiring tracheotomy. This was followed by a successful posterior release with halo traction for 2 weeks and then an instrumented posterior cervical fusion. This patient died at home 2 weeks after surgery. The second and third cases had an intraoperative spinal cord injury during a posterior release for cervical hyperextension. CONCLUSION: Patients with severe cervical hyperextension have high neurologic perioperative risk.