Medical Case: A young woman with headache and focal neurological symptoms

A young woman, a persistent headache, and transient symptoms. What's really going on?

"I have a terrible headache"

Emma is a 21-year-old biology student. On the morning of 16 January, she presented to the emergency room for a worsening headache that had been going on for about a week, initially localised in the right occipital area, of a pulsating type. She also complained of nausea and photophobia. She reports having also had transient visual disturbances (scintillating scotomas) in the previous 72 hours. She took ibuprofen, without improvement of symptoms. The patient says she often suffers from headaches, especially during stressful periods such as this, during which she is preparing for several demanding university exams. The patient reports having no previous illnesses.

Vital parameters are normal, there is no fever, neurological examination is negative. The patient is discharged with the diagnosis of migraine with atypical aura and symptomatic treatment with NSAIDs and triptans. She is advised to see a specialist in case of new episodes.

Back to the Emergency Room

In the late afternoon of 18 January, Emma presented to the emergency room again for worsening headache and sudden onset of speech difficulties and extensive tingling on the left side of her face and head. This time the patient arrived at the emergency department in an ambulance called by her mother, who reported finding her sitting at her desk, sweating and shaking, unable to speak. At triage, the patient is able to answer questions slowly but appropriately. She is alert and oriented

Physical examination and vital parameters

The patient is 163 cm tall, weighed 56 kg (BMI 21 - within normal range). She appears pale, sweaty.

Neurological examination and imaging

The neurological examination (muscle strength, sensitivity, eye motility, etc.) is negative. Emma is now able to speak fluently and no longer feels tingling. The throbbing headache remains.

The patient undergoes a CT scan of the brain without contrast medium, which shows no ischaemic lesions or other parenchymal changes. The patient is admitted to the observation room to monitor her symptoms and perform further diagnostic tests.

What would you diagnose?

In-hospitalization diagnostic procedure

During admission, the diagnostic procedure is completed to rule out an acute ischaemic event (TIA), a hypothesis arising from the transient nature of the focal disturbances.

An Angio-CT of the intracranial and extracranial vessels is performed. The examination shows regular calibre and course of the blood vessels, absence of stenosis, dissections or obvious vascular abnormalities.

This is followed by a transthoracic echocardiogram with microbubble test, which excludes right-left shunts or obvious interatrial defects. Prolonged electrocardiographic monitoring confirms a stable sinus rhythm, without significant arrhythmias or pauses.

Given the outcome of these examinations, the likelihood of a TIA is considered low.

The patient is therefore admitted to the neurology department. Here the neurological evaluation with MRI of the brain and spinal cord with contrast medium is continued. This examination shows multiple periventricular, juxtacortical and infratentorial hyperintense lesions in T2/FLAIR. Some of these lesions enhance with contrast, others do not, suggesting dissemination over time. A single demyelinating lesion is present at the cervical level (C3-C4).

Lumbar puncture is performed, which shows the presence of intrathecal IgG oligoclonal bands (absent in serum).

Based on the McDonald 2017 criteria, the patient meets the criteria of:

  • dissemination in space (lesions in ≥2 typical CNS areas);
  • dissemination in time (capturing and non-capturing lesions, plus oligoclonal bands).

The definitive diagnosis is multiple sclerosis, relapsing-remitting form (RRMS).

Treatment and follow-up

The young patient starts disease-modifying therapy with subcutaneous interferon beta-1a.  

The patient receives psychological and information support. Information about the disease is also provided to the young girl's parents. Outpatient follow-up with:

  • MRI of the brain and cervical spine at 6 and 12 months;  
  • periodic neurological evaluation;  
  • annual screening for side effects of therapy.

Images of MS Lesions on the ..
Images of MS Lesions on the spine, via x ray. Image Credit: Yoon BN, Ha CK, Lee KW, Park SH, Sung JJ. A confusing case of multiple sclerosis and central nervous system graft versus host disease. Korean J Intern Med. 2016;31(5):995-998. doi:10.3904/kjim.2015.065

Take-Home Messages

  1. A new headache associated with focal neurological symptoms requires investigation even in young patients.
  2. TIA should be excluded with vascular imaging and cardiological evaluation, especially in cases with transient symptoms.
  3. Multiple sclerosis may begin with blurred symptoms, and early diagnosis is possible with the correct diagnostic work-up.
  4. Gadolinium-enhanced MRI and CSF examination are key tools to distinguish MS from other diseases (TIA, ADEM).
  5. Early treatment with DMTs can substantially change the natural history of the disease.