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The New England Journal of MedicineA 30-Year-Old Woman with Back Pain, Leg Stiffness, and Falls

Unraveling a Complex Neurological Presentation: Insights into Potential Etiologies and Management Strategies

In a compelling case presented in the Case Records of the Massachusetts General Hospital, a 30-year-old woman’s journey with debilitating symptoms of back pain, leg stiffness, and falls unveils a challenging diagnostic odyssey. Initially presenting with stiffness in the back and upper legs, the patient’s condition evolved over three years, characterized by waxing and waning symptoms and a notable incident of falling and breaking her arm. Despite previous evaluations in rheumatology and sports medicine clinics, the patient’s symptoms persisted, prompting further investigation in the neurology clinic. Noteworthy findings from MRI examinations revealed exaggerated lumbar lordosis and motion artifact limitations, adding complexity to the diagnostic puzzle. Here are the key points from this illuminating case.

Key Points:

  • Gradual onset of back pain and leg stiffness in a young adult woman, evolving over three years, with periods of waxing and waning symptoms.
  • Notable incident of falling and breaking her arm, attributed to tension in the legs preventing self-prevention of the fall.
  • Previous evaluations in rheumatology and sports medicine clinics failed to provide a conclusive diagnosis or effective management strategy.
  • MRI examinations revealed exaggerated lumbar lordosis and motion artifact limitations, complicating the diagnostic process.
  • Treatment with cyclobenzaprine and physical therapy initially initiated with limited success, prompting further evaluation in the neurology clinic.
  • Additional symptoms included gait abnormalities, nocturnal jerking movements, and an exaggerated startle response.
  • Past medical history significant for autoimmune disorders, including Graves’ disease and immune thrombocytopenia, and current medications included cetirizine, desogestrel–ethinyl estradiol, and a multivitamin.
  • The case study presents functional neurologic disorder, myotonia congenita, Parkinson’s disease, paroxysmal kinesigenic dyskinesia, peripheral nerve hyperexcitability, and stiff-person syndrome as the diagnostic choices, with the correct diagnosis revealed in the May 9, 2024 of NEJM.

“During the next several months, back and leg stiffness waxed and waned; at times, the patient could walk normally and engage in running for exercise, and at other times, she was unable to walk because her knees felt as though they had ‘locked up.'”
– Illustrates the fluctuating nature of the patient’s symptoms, emphasizing the diagnostic complexity

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