ABSTRACT
RATIONALE: Joubert syndrome (JS) is a rare genetic disorder that presents with various neurological symptoms, primarily involving central nervous system dysfunction. Considering the etiology of JS, peripheral nervous system abnormalities cannot be excluded; however, cases of JS accompanied by peripheral nervous system abnormalities have not yet been reported. Distinct radiological findings on brain magnetic resonance imaging were considered essential for the diagnosis of JS. However, recently, cases of JS with normal or nearly normal brain morphology have been reported. To date, there is no consensus on the most appropriate diagnostic method for JS when imaging-based diagnostic approach is challenging. This report describes the case of an adult patient who exhibited bilateral peroneal neuropathies and was finally diagnosed with JS through genetic testing. PATIENT CONCERNS AND DIAGNOSIS: A 27-year-old man visited our outpatient clinic due to a gait disturbance that started at a very young age. The patient exhibited difficulty maintaining balance, especially when walking slowly. Oculomotor apraxia was observed on ophthalmic evaluation. During diagnostic workups, including brain imaging and direct DNA sequencing, no conclusive findings were detected. Only nerve conduction studies revealed profound bilateral peroneal neuropathies. We performed whole genome sequencing to obtain a proper diagnosis and identify the gene mutation responsible for JS. LESSONS: This case represents the first instance of peripheral nerve dysfunction in JS. Further research is needed to explore the association between JS and peripheral nervous system abnormalities. Detailed genetic testing may serve as a valuable tool for diagnosing JS when no prominent abnormalities are detected in brain imaging studies.
Subject(s)
Abnormalities, Multiple , Cerebellum , Cerebellum/abnormalities , Eye Abnormalities , Kidney Diseases, Cystic , Peroneal Neuropathies , Retina , Retina/abnormalities , Humans , Male , Adult , Kidney Diseases, Cystic/diagnosis , Kidney Diseases, Cystic/genetics , Kidney Diseases, Cystic/complications , Cerebellum/diagnostic imaging , Eye Abnormalities/diagnosis , Eye Abnormalities/genetics , Peroneal Neuropathies/diagnosis , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Retina/diagnostic imaging , Magnetic Resonance ImagingABSTRACT
BACKGROUND: After vaccination was mandated worldwide, various adverse effects associated with the coronavirus disease 2019 (COVID-19) vaccination, including shoulder pain, have been reported. Here, we report a case of new-onset shoulder pain after BNT162b2 (Comirnaty, Pfizer-BioNTech) mRNA vaccination. CASE SUMMARY: A 50-year-old man visited our rehabilitation center with left shoulder range of motion (ROM) limitation that had persisted for more than 5 mo. The history included no specific noteworthy events, except vaccination. The pain in the patient's left deltoid muscle appeared 1 day after the second BNT162b2 vaccination and intensified to severe pain. The patient self-administered aspirin, with which the pain subsided immediately, whereas ROM limitation persisted. At the first visit, the patient complained of dull pain and ROM restriction of the left shoulder (flexion 130°, abduction 110°, and external rotation 40°). Among the diagnostic studies conducted for the evaluation of the shoulder, magnetic resonance imaging showed a thickened coracohumeral ligament. Nerve conduction studies and needle electromyography showed no electrodiagnostic abnormalities. The patient received comprehensive rehabilitation for 7 mo and had an overall improvement in pain and ROM of the left shoulder. CONCLUSION: In this case of severe shoulder pain after COVID-19 vaccination that subsided immediately with aspirin treatment, the exact cause and mechanism of pain are unclear. However, the clinical symptoms and diagnostic workups in our report suggest the possibility that the COVID-19 vaccination triggered an immunochemical response that resulted in shoulder pathology.
