What is the diagnosis for a 24-year-old patient with a positive Babinski reflex, joint weakness, and history of myoclonus, hyperacusis, photophobia, and paresthesia, with a normal brain MRI?

Medical Advisory BoardAll articles are reviewed for accuracy by our Medical Advisory Board
Educational purpose only • Exercise caution as content is pending human review
Article Review Status
Submitted
Under Review
Approved

Last updated: February 10, 2025View editorial policy

Personalize

Help us tailor your experience

Which best describes you? Your choice helps us use language that's most understandable for you.

Differential Diagnosis

The patient's symptoms are complex and multifaceted, involving neurological, musculoskeletal, and sensory components. Given the information, the differential diagnosis can be organized into the following categories:

  • Single Most Likely Diagnosis
    • Functional Neurological Disorder (FND): This condition is characterized by neurological symptoms that cannot be explained by a neurological disease or any other medical condition. The patient's history of involuntary muscle tics, hand joint pain after repetitive activity, sound and light sensitivity, headaches, and weird nerve sensations, along with the presence of a positive Babinski reflex and slightly reduced foot tapping speed, could suggest a functional disorder. The fact that most symptoms have subsided but the patient has not returned to baseline normal, and the normal brain MRI, supports this diagnosis.
  • Other Likely Diagnoses
    • Anxiety Disorder: The patient's symptoms of startle response, sound and light sensitivity, and headaches could be indicative of an anxiety disorder. The physical symptoms such as joint weakness and weird nerve sensations could be somatic manifestations of anxiety.
    • Fibromyalgia: This condition is characterized by widespread musculoskeletal pain, fatigue, and tender points. The patient's history of hand joint pain after repetitive activity, heavy legs, and weird nerve sensations could be consistent with fibromyalgia.
    • Migraine Disorder: The patient's symptoms of headaches, sound and light sensitivity, and minimal vision stars could be indicative of a migraine disorder.
  • Do Not Miss Diagnoses
    • Multiple Sclerosis (MS): Although the brain MRI was normal, MS can be a diagnosis that is missed, especially in early stages. The patient's symptoms of joint weakness, weird nerve sensations, and positive Babinski reflex could be indicative of MS.
    • Neuropathy: The patient's symptoms of weird nerve sensations and joint weakness could be indicative of a neuropathy. Further testing, such as electromyography (EMG) and nerve conduction studies (NCS), would be necessary to diagnose neuropathy.
    • Lyme Disease: This tick-borne illness can cause a wide range of neurological and musculoskeletal symptoms, including joint pain, nerve sensations, and headaches. Although less likely, it is a diagnosis that should not be missed.
  • Rare Diagnoses
    • Wilson's Disease: This rare genetic disorder can cause neurological symptoms, including tremors, and psychiatric symptoms, such as anxiety and depression. Although unlikely, it is a diagnosis that should be considered in a young patient with unexplained neurological symptoms.
    • Mitochondrial Myopathies: These rare genetic disorders can cause a wide range of neurological and musculoskeletal symptoms, including muscle weakness, nerve sensations, and headaches. Although unlikely, they should be considered in a patient with unexplained symptoms.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

Have a follow-up question?

Our Medical A.I. is used by practicing medical doctors at top research institutions around the world. Ask any follow up question and get world-class guideline-backed answers instantly.