According to researchers, multiple diseases affect the protein dysferlin in skeletal muscles grouped under the umbrella term “dysferlinopathy,” which is inherited in an autosomal recessive fashion. These variations are associated with distal myopathy with anterior tibial onset, asymptomatic hyperCKemia, Miyoshi myopathy, and type 2B limb-girdle muscular dystrophy. About 1 week after her second BNT162b2 mRNA (Pfizer) vaccination, a 16-year-old girl presented with myalgia, weakness, and black urine. Serum creatine kinase (CK) levels were 153,000 IU/L initially and have since increased to far over 200,000 IU/L. However, even after 10 days of IV hydration and alkaline diuresis, the patient’s renal function was still too high for hemodialysis to be a viable option, so the patient was discharged. Infection with Group A Streptococcus pharyngitis, exacerbated by rhabdomyolysis, landed the patient in the hospital just 2 years prior to the current presentation. She had a CK level of 984,800 IU/L when she was first seen and was experiencing fatigue, weakness in her lower extremities, and black oliguria. While in the hospital for 24 days, they tried giving her IV fluids before resorting to hemodialysis. As her incident was deemed idiopathic, no further testing was performed. The patient’s current hospitalization follows the same pattern of symptoms (myalgias and weakness) she reported after receiving her first quadrivalent Gardasil vaccine at age 11. As of that time, no hospitalization was necessary. Since this was most likely the patient’s second or third episode of non-exertional, non-traumatic rhabdomyolysis, a thorough evaluation was begun. The endocrinological, metabolic, infectious, and rheumatological results were all nondescript. After further testing, whole exome sequencing revealed a heterozygous pathogenic mutation in the DYSF gene (DYSF c.2643 + 1G>A), which codes for dysferlin. There have been no ill effects on a clinical level. To the best of our knowledge, repeated rhabdomyolysis following immunogenic stimulation has not been linked to cases of symptomatic heterozygous carriers of dysferlinopathies. This uncommon case study highlights the importance of interdisciplinary teams in patient treatment, the value of modern whole-exome gene sequencing, and the looming challenge of weighing the risks and benefits of vaccines.

Source: bmcpediatr.biomedcentral.com/articles/10.1186/s12887-022-03561-2