Breath of hope: unravelling isolated respiratory paralysis through anti musk positive myasthenia gravis
DOI:
https://doi.org/10.18203/2320-6012.ijrms20242960Keywords:
Respiratory paralysis, Myasthenia gravis, Muscle specific kinase antibodyAbstract
Isolated respiratory paralysis is a rare and perplexing clinical presentation that demands an astute diagnostic investigation. We present a case of 28-year-old woman who presented with sudden onset severe respiratory distress, with no overt signs of generalized muscle weakness, no cranial nerve dysfunction, or any other focal neurological deficit. The initial clinical scenario posed a diagnostic challenge, as the absence of typical myasthenia gravis features led to a myriad of differential considerations. However, through meticulous clinical evaluation, neurophysiological studies, and antibody testing, we unraveled the underlying cause-MuSK positive Myasthenia gravis. Unlike the more common acetylcholine receptor (AchR) positive MG, MuSK positive MG often presents with isolated respiratory involvement posing diagnostic hurdles. Though patient eventually succumbed owing to ventilator associated pneumonia and sepsis, this case exemplifies the necessity of a comprehensive diagnostic approach, even in the face of uncommon presentations, and underscores the importance of tailored therapeutic strategies in improving patient outcomes.
References
Mahadeva B. Philips LH 2nd. Juel VC Autoimmune disorders of neuromuscular transmission. Semin Neurol. 2008;28(2):212.
Lavrnic D, Losen M, De Baets M, Hajdukovic LJ, Stojanovic V, Trikic R, et al. The features of myasthenia gravis with autoantibodies to MuSK. J Neurol Neurosurg Psychiatry. 2005;76(8):1099-102.
Nicolle MW. Myasthenia gravis and Lambert Eaton myasthenic syndrome. Continuum (Minneap Minn). 2016;22(6):1978.
Hoch W, McConville J, Helms S, Newsom-Davis J, Melms A, Vincent A. Auto-antibodies to the receptor tyrosine kinase MuSk in patients with myasthenia gravis without acetylcholine receptor antibodies. Nat Med. 2001;7(3):365-8.
Guptill JT, Sanders DB. Update on muscle- specific tyrosine kinase antibody positive myasthenia gravis. Curr Opin Neurol. 2010;23(5):530-5.
Koneczny I, Stevens JA, De Rosa A, Huda S, Huijbers MG, Saxena A, et al. IgG4 autoantibodies against muscle specific kinase undergo fab arm exchange in myasthenia gravis. J Autoimmune. 2017;77:104-15.
Guptill J, Sanders DB, Evoli A. Anti-MuSK antibody myasthenia gravis: clinical findings and response to treatment in two large cohorts. Muscle Nerve. 2011;44(1):36-40.
Rodolico C, Parisi D, Portaro S, Biasini F, Sinicropi S, Ciranni A, et al. Myasthenia gravis: unusual presentations and diagnostic pitfalls. J Neuromuscul Dis. 2016;3(3):413-8.
Huda S, Waters P, Woodhall M, Leite MI, Jacobson L, De Rosa A, et al. IgG-specific cell-based assay detects potentially pathogenic MuSK-Abs in seronegative MG. Neurol Neuroimmunol Neuroinflamm. 2017;4(4):e357.
Morren J, Li Y. Myasthenia gravis with muscle-specific tyrosine kinase antibodies: a narrative review. Muscle Nerve. 2018;58(3):344-58.
Reddel SW, Morsch M, Phillips WD. Clinical and scientific aspects of muscle-specific tyrosine kinase-related myasthenia gravis. Curr Opin Neurol. 2014;27(5):558-65.
Hehir MK, Hobson-Webb LD, Benatar M, Barnett C, Silvestri NJ, Howard JF Jr, et al. Rituximab as treatment for anti-MuSK myasthenia gravis: multicenter blinded prospective review. Neurology. 2017;89(10):1069-77.
Borges LS, Richman DP. Muscle specific kinase myasthenia gravis. Review article. Front Immunol. 2020;11:707.