From the Guidelines
The Upper Motor Neuron (UMN) spinal lesion would most likely be located in the cervical or thoracic cord, given the patient's symptoms and the absence of lesions in the brain, C1, C2, C3, or C4.
Key Points
- The patient's symptoms, such as a positive Babinski sign, heavy leg sensation, intentional tremor of hands, finger weakness, and full-body muscle tics, are consistent with an UMN lesion in the spinal cord 1.
- The absence of lesions in the brain, C1, C2, C3, or C4, and the presence of moderate connective tissue laxity, suggest a spinal cord lesion located in the cervical or thoracic region 1.
- Multiple sclerosis (MS) lesions are often small, covering less than two vertebral segments, and usually less than half of the cord area, which is consistent with the patient's symptoms and family history of MS 1.
- The patient's age and symptoms are consistent with the diagnosis of MS, and the MRI criteria for MS diagnosis, including the presence of at least one typical MS lesion in at least two characteristic regions, are likely to be met 1.
- The use of gadolinium-enhancing lesions and other MRI sequences can help confirm the diagnosis and rule out other conditions, such as neuromyelitis optica spectrum disorders or neurosarcoidosis 1.
- The MAGNIMS consensus guidelines suggest that symptomatic lesions can be included in the diagnosis of MS, which may increase the sensitivity of MRI criteria for diagnosing MS without compromising specificity 1.
Given the patient's symptoms and the absence of lesions in the brain, C1, C2, C3, or C4, a spinal cord lesion located in the cervical or thoracic region is the most likely diagnosis.
From the Research
Clinical Presentation
The patient presents with a positive Babinski sign, heavy leg sensation, intentional tremor of hands, finger weakness, preserved vision, and full-body muscle tics. These symptoms are indicative of an Upper Motor Neuron (UMN) lesion.
Possible Location of the Lesion
Given that there are no lesions in the brain, C1, C2, C3, or C4, the lesion is likely to be located in the spinal cord below the level of C4. The presence of a positive Babinski sign, which is a reflex indicative of UMN damage, suggests that the lesion is affecting the corticospinal tract.
Association with Multiple Sclerosis (MS)
The patient's family history of MS and the presence of intentional tremor, which is a common symptom in MS patients 2, 3, 4, 5, suggest that the lesion may be related to MS. However, the patient's moderate connective tissue laxity may also be a contributing factor, as connective tissue disorders can mimic MS symptoms 6.
Key Findings
- The patient's symptoms are consistent with a UMN lesion in the spinal cord below the level of C4.
- The presence of intentional tremor and other symptoms suggests a possible association with MS.
- Connective tissue laxity may be a contributing factor to the patient's symptoms.
- The lesion is likely to be located in the spinal cord, affecting the corticospinal tract and causing UMN symptoms, such as:
- Positive Babinski sign
- Heavy leg sensation
- Intentional tremor of hands
- Finger weakness
- Full-body muscle tics
Relevant Studies
The patient's symptoms and possible diagnosis are supported by studies on MS and movement disorders, including:
- 2: Hyperkinetic movement disorders, such as tremors, are common in MS patients.
- 3: Tremor is a prevalent symptom in MS, with a significant impact on quality of life.
- 4: Tremor and movement disorders in MS can cause severe functional impairment.
- 6: Connective tissue disorders can mimic MS symptoms, highlighting the importance of systematic screening.
- 5: Tremor is a common symptom in MS, with a wide range of prevalence and associated disability.