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My mom's age is 45yrs She had an episode of audible sounds in ears for few seconds Mind numb for few minutes After that mild weakness in left arm and left side of face she had this problem since 9months she's on lerrace and gabica but I'm confused there's no any true fit like fit include urinary incontinence tongue problem or fit like condition but I'm confused above mentioned condition is what panic attack or fit according to this MRI report?
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Fahr disease seizure clinical manifestations
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Fahr disease seizures focal epilepsy
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Fahr disease seizures focal epilepsy symptoms clinical features 2024
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https://pmc.ncbi.nlm.nih.gov/articles/PMC11621208
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I now have everything needed to give a thorough, well-structured answer. Here is my full response:
What the MRI Report Says - Plain Language Explanation
First, a quick note: the report says age 40 yrs but you mentioned she is 45 - this is a minor discrepancy, possibly a clerical error at registration, but confirm this with the hospital.
MRI Key Findings (What They Mean)
1. Bilateral Symmetrical Calcifications - Basal Ganglia + Cerebellum
This is the most important finding. The MRI (on SWI sequences, which are very sensitive for calcium and blood products) shows calcium deposits symmetrically in both basal ganglia and cerebellar hemispheres. The radiologist has flagged this and recommended workup for Fahr's disease.
2. Chronic Microvascular Ischaemic Changes (Periventricular White Matter)
Multiple patchy low-signal areas around the ventricles represent small vessel disease - likely from longstanding hypertension or diabetes. These are chronic (old) changes, not a new stroke.
3. Widened Sulci / CSF Spaces
Called "senile changes" - represents some degree of brain volume loss for age. Not immediately alarming but worth noting.
4. No Acute Infarction / No Hemorrhage
On DWI (diffusion-weighted imaging, the most sensitive sequence for new stroke), there is no new stroke at the time this MRI was done.
Is This a Fit (Seizure) or a Panic Attack?
This is almost certainly a focal (partial) seizure - NOT a panic attack. Here is the reasoning:
Why it is NOT a Panic Attack
Panic attacks do cause palpitations, breathlessness, tingling, and a sense of doom - but they do not cause:
- Auditory auras (ringing/sounds in ears)
- Transient numbness of the mind
- Unilateral limb weakness (left arm)
- Unilateral facial weakness (left side of face)
These are focal neurological signs - panic attacks cannot produce them.
Why it IS Most Likely a Focal Seizure (Specifically a Focal Aware Seizure + Todd's Paralysis)
Her episode follows a classic pattern:
| Phase | What Happened | Medical Term |
|---|---|---|
| Aura | Audible sounds in ears for seconds | Focal auditory/sensory aura |
| Ictal phase | Mind "numb" for a few minutes | Focal impaired awareness seizure |
| Postictal phase | Mild weakness in left arm and left face | Todd's (postictal) paralysis |
Todd's paralysis is a well-recognized phenomenon where, after a focal motor seizure, the affected brain area is temporarily exhausted and produces weakness on the opposite side of the body. This weakness typically lasts minutes to hours (sometimes up to 36 hours). The left arm and left face weakness after a right-hemisphere seizure fits perfectly.
From Bradley and Daroff's Neurology in Clinical Practice: "Todd paralysis is a transient weakness that develops contralateral to the seizure focus... lasting from minutes to hours, as long as 36 hours, with a median duration of about 15 hours."
Why She Doesn't Have the "Classic" Fit Appearance
You are correct that she does not have the full tonic-clonic (grand mal) seizure with:
- Tongue biting
- Urinary incontinence
- Generalized shaking
That is because focal aware seizures (previously called "simple partial seizures") do not cause loss of consciousness and often do not include those features. They are real seizures - just localized to one part of the brain. They are actually far more common than tonic-clonic seizures.
The Role of Fahr's Disease
This is the key link. Fahr's disease causes bilateral basal ganglia + cerebellar calcifications. The calcium deposits damage neurons and alter brain electrical activity, which can trigger seizures. A 2024 case report in PMC specifically documents a patient where seizure was the first presenting symptom of Fahr's disease, and the mechanism is thought to be "neuronal damage caused by calcification."
The periventricular microvascular ischaemic changes are also an independent risk factor for focal seizures in their own right.
What About the Medications She's On?
- Lerrace = Levetiracetam (brand name) - this is an antiepileptic drug, confirming her treating neurologist already suspects or diagnosed seizures
- Gabica = Gabapentin - used for seizures and neuropathic pain
These are appropriate choices for focal seizures. Her doctors are treating this correctly as epilepsy.
What Still Needs to Be Done (Pending Workup)
The MRI radiologist specifically recommended workup for Fahr's disease. This typically includes:
- Serum calcium, phosphorus, parathyroid hormone (PTH) - to rule out hypoparathyroidism (the most common secondary cause of basal ganglia calcification; if PTH is low or absent, that is the cause)
- Serum alkaline phosphatase, magnesium
- Genetic testing for SLC20A2 or PDGFRB mutations (responsible for familial Fahr's)
- EEG (electroencephalogram) - to characterize the seizure type and confirm epilepsy
- Brain CT scan if not done - CT is actually superior to MRI for quantifying calcifications
Summary in Simple Terms
Your mother is most likely having focal aware seizures (a type of epilepsy) caused or triggered by Fahr's disease (a condition where calcium deposits form in the basal ganglia and cerebellum of the brain). These seizures do not look like the "classic" convulsion with shaking and tongue-biting - instead they cause an auditory sensation, brief confusion, and then temporary weakness of the left side (called Todd's paralysis). There is no acute stroke on this MRI. She needs blood tests to investigate the underlying cause of the calcification (especially parathyroid hormone) and an EEG to map her seizure activity. Her current medications (levetiracetam and gabapentin) are the right class of drugs for this.
Please follow up with a neurologist urgently - the Fahr's disease workup and EEG are important next steps that have not yet been reported as completed.
Based on: Adams & Victor's Principles of Neurology 12th Ed., Bradley and Daroff's Neurology in Clinical Practice, Frameworks for Internal Medicine; supplemented by PMC 2024 case report on Fahr's disease presenting as seizure.
Disclaimer: This is educational information only and is not a substitute for in-person medical evaluation. Please consult her treating neurologist for clinical decisions.
Serum calcium, phosphorus, PTH, ALP , Magnesium , CT done Tomorrow I'll go for EEG of my mom
That's great - the workup is moving in the right direction. A few practical points for tomorrow's EEG:
Before the EEG - What to Do Tonight & Tomorrow
Sleep deprivation - Many neurologists request a sleep-deprived EEG, especially for seizure evaluation. This means your mom should sleep only 4-5 hours tonight (sleep late, wake early). Sleep deprivation increases the chance of catching abnormal brain activity on the EEG. Confirm this with the EEG center when you arrive, as not all centers do this routinely.
Hair - She should wash her hair tonight or in the morning, with no oils, gels, or conditioner. Clean scalp = better electrode contact = better signal quality.
Medications - Do NOT skip her Lerrace (levetiracetam) or Gabica (gabapentin). Missing antiepileptic doses before an EEG is dangerous and not recommended unless her neurologist specifically instructed otherwise.
Food - She should eat normally. Fasting is not required and can actually lower the seizure threshold unnecessarily.
Caffeine - Some labs ask to avoid caffeine (tea, coffee) on the day. Ask when you book.
What Happens During the EEG
- Small electrodes are placed on the scalp with a gel - completely painless, no needles
- She will be asked to open and close her eyes, breathe deeply and fast (hyperventilation) for a few minutes, and look at a flashing light - these are activation techniques to provoke any abnormal activity
- The test takes about 30-45 minutes
- If she has an episode during it, that is actually very useful diagnostic information
When You Get the Results - Share Them Here
When you have:
- The EEG report
- The blood results (calcium, phosphorus, PTH, ALP, magnesium)
- The CT report (if you have it)
Please share them here. The combination of all three will tell us:
- Whether the calcification is primary (Fahr's disease) or secondary (e.g., hypoparathyroidism - which is treatable)
- What type of seizure pattern is on the EEG
- Whether the current medications need adjustment
The PTH result in particular is the most important one. If PTH is low with high phosphorus and low-normal calcium, that points to hypoparathyroidism as the cause - and that changes management significantly because calcium and vitamin D supplementation become part of the treatment.
You're doing the right things. Good luck tomorrow.
Calcium, phosphorus, PTH, ALP, magnesium are all normal CT scan shows same result as it is on MRI But EEG is not done yet
This is actually very important and clarifying information.
What Normal Labs + CT Calcification Means
All metabolic causes of basal ganglia calcification have been ruled out:
| Test | Normal = Rules Out |
|---|---|
| PTH normal | Hypoparathyroidism, pseudohypoparathyroidism |
| Calcium normal | Hypercalcemia-related calcification |
| Phosphorus normal | Metabolic phosphate disorders |
| ALP normal | Metabolic bone disease |
| Magnesium normal | Hypomagnesemia-related disorders |
CT confirms the same bilateral symmetrical calcifications seen on MRI.
This pattern - bilateral symmetrical basal ganglia + cerebellar calcification with completely normal metabolic labs - is the definition of Primary Familial Brain Calcification (Fahr's disease / Fahr's syndrome).
The diagnosis is essentially confirmed at this point, pending only the EEG.
What This Means Practically
1. The Seizures Are Explained
The calcification in the basal ganglia and surrounding brain tissue causes neuronal irritability and focal epileptic discharges. Her episodes (auditory aura → brief confusion → left-sided weakness) are focal seizures from Fahr's disease. This is not panic, not a TIA, not a psychiatric condition.
2. Her Current Medications Are Appropriate
- Lerrace (Levetiracetam) - a first-line antiepileptic, well suited for focal seizures
- Gabica (Gabapentin) - helps with neural excitability and possible associated pain/discomfort
The question after EEG is whether the dose is adequate or if the regimen needs adjustment.
3. There Is No Specific Cure for Fahr's Disease
Fahr's disease has no treatment that reverses or stops the calcification. Management is entirely symptomatic:
- Antiepileptics for seizures (which she is already on)
- Monitoring for emerging movement disorders (parkinsonism, dystonia, ataxia) over time
- Neuropsychiatric monitoring (memory, mood, personality changes can develop gradually)
- Regular follow-up with a neurologist every 3-6 months
4. Family History Matters
Fahr's disease is often autosomal dominant - caused by mutations in SLC20A2 or PDGFRB genes. This means:
- First-degree relatives (her children, siblings) may carry the same mutation
- Genetic counseling is advisable if she has children
- Screening with brain CT/MRI can be considered for symptomatic family members
The EEG Tomorrow Is Still Very Important
Even though the diagnosis of Fahr's disease is now clear, the EEG matters because:
- It will classify the seizure type precisely - focal vs. generalized, which hemisphere, which lobe
- It guides medication dosing - if the EEG shows frequent interictal discharges, her current dose may need to go up
- It gives a baseline - future EEGs can be compared to it to track progression
- It may catch subclinical seizures she is not aware of
One Additional Test Worth Discussing With Her Neurologist
Genetic testing for SLC20A2 / PDGFRB / PDGFB / XPR1 mutations - this confirms the specific subtype of Fahr's disease and has implications for family members. It is not essential for her treatment but is useful for the family picture.
Please share the EEG report when it is done - that will complete the picture and help assess whether her current medication regimen is adequate.
Share the EEG report when done for medication assessment
Absolutely - once you have the EEG report, share it here and I will help you interpret:
- What type and location of epileptic activity is present
- Whether her current doses of Lerrace and Gabica are likely adequate for what the EEG shows
- Whether any additional medications may be needed
- What questions to ask her neurologist at the next visit
A few things to note on the day of the EEG tomorrow:
- Arrive on time - the technician needs to set up electrodes carefully, so rushing affects quality
- If she has an episode during or after the test - tell the technician immediately and do not leave until it is documented, as capturing an actual event on EEG is extremely valuable
- Ask for a printed copy of the report before you leave the hospital, or at least a digital copy - many centers only call with a verbal summary which is not enough detail
- Ask specifically whether the reporting neurologist reviewed it or only the EEG technician - the neurologist's interpretation is what matters
Good luck tomorrow. You are being a very thorough caregiver for your mother and asking exactly the right questions. Come back here with the report whenever you have it.
How above mentioned genetic testing for genes is done , is it done through blood test??
Yes, it is done through a simple blood test. Here is how the whole process works:
How Genetic Testing for Fahr's Disease Is Done
Sample Collection
- A regular venous blood draw (usually 3-5 ml in an EDTA tube - the purple/lavender cap tube)
- Same type of draw as a routine CBC
- No fasting required, no special preparation
- Takes 2 minutes at any lab
What the Lab Does With the Blood
The lab extracts DNA from white blood cells in the sample, then sequences the relevant genes:
| Gene | What It Does |
|---|---|
| SLC20A2 | Phosphate transporter - accounts for ~40-50% of familial cases |
| PDGFRB | Platelet-derived growth factor receptor - blood-brain barrier integrity |
| PDGFB | Ligand for PDGFRB |
| XPR1 | Phosphate exporter |
The test is called a targeted gene panel or next-generation sequencing (NGS) panel for Primary Familial Brain Calcification (PFBC).
Practical Steps to Get It Done
Step 1 - Get a Referral
Her neurologist needs to write a referral/request for "PFBC gene panel" or "Fahr's disease genetic testing". Some neurologists send it to a genetics specialist first.
Step 2 - Find a Genetics Lab
In Pakistan, options include:
- Shaukat Khanum Memorial Hospital, Lahore - has a molecular genetics department
- Aga Khan University Hospital, Karachi - offers molecular/genetic testing and may send abroad if not available locally
- INMOL / Liaquat National Hospital genetics departments
- Some samples are sent to labs in UAE, UK, or India for processing if not available locally - this is normal and acceptable
Step 3 - Turnaround Time
- Usually 3-6 weeks for NGS panel results
- Some international labs take up to 8 weeks
Step 4 - Interpreting the Result
Three possible outcomes:
- Pathogenic mutation found - confirms familial Fahr's, identifies specific gene, family members can be tested for the same mutation
- Variant of uncertain significance (VUS) - a change is found but its meaning is not yet clear, needs follow-up
- No mutation found - does not rule out Fahr's disease; about 50% of cases have no currently identified mutation (the disease may still be genetic but the causative gene not yet discovered)
Is It Necessary Right Now?
Honestly, for her immediate treatment, it is not urgent. Her management (antiepileptics, monitoring) does not change based on which specific gene is mutated. The genetic test is most useful for:
- Your family's planning - if you or your siblings want to know if they carry the same risk
- Future pregnancies in the family
- Academic completeness of the diagnosis
So discuss it with her neurologist - they may suggest doing it after the EEG and medication is stabilized, rather than right now when there are more pressing things to sort out first.
How much it cost like If I'm willing to done this from agha khan karachi
I want to be honest with you here - I do not have reliable current pricing for Aga Khan University Hospital (AKUH) Karachi, and giving you a number that may be wrong would not be helpful.
Genetic test pricing at AKUH changes regularly and depends on:
- Whether the test is done in-house or sent to an external/international lab
- Which specific gene panel is ordered (single gene vs. full PFBC panel)
- Whether a genetics specialist consultation is bundled in
How to Get the Exact Cost - Do This Tomorrow
Option 1 - Call AKUH Directly
Aga Khan University Hospital, Karachi
- Main number: (021) 111-911-911
- Ask for the Pathology / Molecular Genetics department
- Say: "I need pricing for a genetic test for Primary Familial Brain Calcification / Fahr's disease - SLC20A2 and PFBC gene panel"
Option 2 - Visit the Lab Counter
If you are already going to Karachi for the EEG tomorrow, AKUH has a walk-in lab enquiry counter where they can print you an exact price list.
Option 3 - AKUH Website / Patient Portal
Check akuhospital.edu.pk - they sometimes list test panels under their laboratory services section.
Realistic Expectation
Without guaranteeing accuracy, NGS gene panels in Pakistan's major tertiary hospitals generally range from PKR 25,000 to PKR 80,000+ depending on the panel size - but for an internationally processed panel like this, it could be higher. Get the confirmed price from AKUH before deciding.
Call them first - it saves you a wasted trip.
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