Adolescent Rhabdomyolysis Female after Immunologic Stimuli

According to the researchers, several diseases affect the protein dysferlin in the skeletal muscles, which is summarized under the generic term “dysferlinopathy” and is inherited in an autosomal recessive manner. These variations are associated with distal myopathy of anterior tibial onset, asymptomatic hyperCKemia, Miyoshi myopathy, and limb-girdle muscular dystrophy type 2B. Approximately one 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 started at 153,000 IU/L and have since risen to well over 200,000 IU/L. But even after 10 days of IV hydration and alkaline diuresis, the patient’s renal function was still too high to make hemodialysis a viable option, so the patient was discharged. Infection with group A streptococcal pharyngitis, aggravated by rhabdomyolysis, brought the patient to the hospital just 2 years before the current presentation. She had a CK of 984,800 IU/L when first seen and was suffering from fatigue, weakness in her lower extremities, and black oliguria. During her 24-day hospital stay, they attempted to put her on IV fluids before switching to hemodialysis. Because her incident was classified as idiopathic, no further testing was performed. The patient’s current hospitalization follows the same pattern of symptoms (myalgia and weakness) that she reported after receiving her first quadrivalent Gardasil vaccine at age 11. From that point on, hospitalization was no longer necessary. Since this was most likely the patient’s second or third episode of non-stressful, non-traumatic rhabdomyolysis, a thorough investigation was begun. The endocrine, metabolic, infectious and rheumatological findings were all unremarkable. After further testing, whole exome sequencing revealed a heterozygous pathogenic mutation im DYSF gene (DYSF c.2643 + 1G>A) encoding dysferlin. There were no adverse effects at the clinical level. To the best of our knowledge, repeated rhabdomyolysis following immunogenic stimulation has not been associated with cases of symptomatic heterozygous carriers of dysferlinopathies. This unusual case study underscores the importance of interdisciplinary teams in treating patients, the value of modern whole-exome gene sequencing, and the looming challenge of weighing the risks and benefits of vaccines.

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