Suspected Adult-Onset Congenital Myasthenic Syndrome Associated With a Heterozygous CHRND Variant in a Patient With Seropositive Rheumatoid Arthritis: A Case Report

22 June 2026 : Case report Saudi Arabia

Challenging differential diagnosis, Congenital defects / diseases

Khaled Abdulwahab Amer

^{AE 1*}, Hanan Hassan Almalki

^{AF 2}, Faisal Saud Alhudaithi^{BD 3}

DOI: 10.12659/AJCR.952887

Am J Case Rep 2026; 27:e952887

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Table 3 Imaging findings (CT of the neck/chest/abdomen/pelvis and multi-sequence MRI of the brain without contrast).

Study	Findings	Interpretation
Neck/chest/abdomen/pelvis CT	Unremarkable	No malignancy
Colonoscopy	Normal	–
Brain MRI	Normal	Normal cerebral parenchyma with no acute infarct, hemorrhage, mass lesion, or abnormal enhancement
Abbreviations: CT, computed tomography; MRI, magnetic resonance imaging.

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