# Clinical Cases: Pediatric Neurology

## Case 1: Infantile Spasms (West Syndrome)

### Patient Demographics
- **Age:** 6 months old
- **Sex:** Male
- **Parents:** Both present, first-time parents

### Chief Complaint
Mother: "He's been having these strange jerking movements where he curls up. They happen in clusters when he wakes up."

### History of Present Illness
Baby Lucas is a 6-month-old boy brought by his parents for evaluation of unusual movements that began 2 weeks ago. His mother describes episodes where he suddenly flexes his body - his arms come up, his head drops forward, and his legs draw up toward his belly - like he is "folding in half." Each jerk lasts about 1-2 seconds. The movements occur in clusters of 10-20 episodes over several minutes, typically right after waking from sleep. The parents initially thought he had colic or gas, but the episodes have increased in frequency and they noticed he seems distressed during them, sometimes crying afterward. Between episodes, he appears normal. They have also noticed he seems less interactive than he was a month ago - he used to smile and coo at them frequently, but now he seems more "zoned out."

### Developmental History
- **3 months:** Social smile, cooing, head control - ALL ON TIME
- **5 months:** Reaching for objects, rolling front to back - ON TIME
- **6 months (now):** Parents report he seems to have "lost" his social smile and is less engaged; not reaching as much

### Birth History
- Born at 39 weeks via uncomplicated vaginal delivery
- Birth weight: 7 lbs 4 oz
- APGAR scores: 8 and 9
- No NICU admission
- Normal newborn metabolic screen
- No hypoxic episodes

### Past Medical History
- No significant medical problems
- No prior seizures
- Immunizations up to date

### Family History
- No seizure disorders
- No neurocutaneous syndromes
- No developmental delays

### Physical Examination
- **Vital Signs:** Normal for age
- **Growth:** Weight and head circumference at 50th percentile
- **General:** Alert infant, less socially engaged than expected
- **Skin:** Examined carefully under Wood's lamp - **3 hypopigmented macules ("ash leaf spots")** on trunk, approximately 1-2 cm each
- **Neurological:**
  - Hypotonia noted (mild axial)
  - No focal deficits
  - Deep tendon reflexes normal
- **During examination:** Witnessed cluster of 8 flexor spasms over 2 minutes following arousal - flexor spasms with arm extension (modified salaam attack)

### Clinical Image
![Infantile Spasms Pattern](case_01_image.jpg)

*Image: Illustration showing the characteristic flexor spasm pattern in infantile spasms (West syndrome) with sudden flexion of trunk, arms, and legs in a "jackknife" or "salaam" posture.*

**Image Source:** Wikimedia Commons
**Attribution:** Medical illustration, Educational Use
**URL:** https://commons.wikimedia.org/wiki/File:Infantile_spasms.png

### Diagnostic Studies

**EEG:**
- **Hypsarrhythmia:** High-amplitude chaotic background with multifocal spikes and slow waves - classic pattern for infantile spasms
- Recorded one cluster of electrodecremental events (EEG flattening) corresponding to clinical spasms

**MRI Brain:**
- Multiple cortical tubers (hyperintense T2/FLAIR lesions) in bilateral cerebral hemispheres
- Subependymal nodules along lateral ventricles
- No subependymal giant cell astrocytoma (SEGA)

**Genetic Testing:**
- TSC1/TSC2 gene analysis sent

**Additional Workup:**
- Echocardiogram: No cardiac rhabdomyomas
- Renal ultrasound: Small bilateral renal cysts
- Ophthalmology: Retinal hamartomas present

### Assessment and Diagnosis

1. **Infantile Spasms (West Syndrome)**
   - Clinical: Clusters of flexor spasms
   - EEG: Hypsarrhythmia
   - Developmental regression

2. **Tuberous Sclerosis Complex (TSC)**
   - Definite diagnosis based on meeting clinical criteria:
     - Major features: Cortical tubers (2), ash-leaf spots (≥3), subependymal nodules, retinal hamartomas
     - Minor features: Renal cysts
   - Genetic confirmation pending

### Diagnostic Criteria - West Syndrome (Triad)
| Feature | Present |
|---------|---------|
| Infantile spasms (clusters) | YES |
| Hypsarrhythmia on EEG | YES |
| Developmental regression | YES |

### Urgency of Treatment
Infantile spasms constitute a **neurological emergency** - prompt treatment is associated with better developmental outcomes. Delay in treatment is associated with poorer cognitive outcomes.

### Management Plan

**First-Line Treatment for Infantile Spasms in TSC:**
- **Vigabatrin 50 mg/kg/day** divided twice daily
- Increase to 100-150 mg/kg/day over 1-2 weeks based on response
- Vigabatrin is specifically preferred in TSC-associated infantile spasms (higher response rate than ACTH)
- Counsel on retinal toxicity risk - requires baseline and periodic ophthalmology monitoring

**If Vigabatrin Fails or for Non-TSC Infantile Spasms:**
- ACTH (adrenocorticotropic hormone) - traditional first-line
- High-dose prednisolone as alternative

**TSC-Specific Management:**
- Referral to comprehensive TSC clinic
- mTOR inhibitor therapy (everolimus) - may be considered for SEGA prevention
- Multidisciplinary surveillance per TSC guidelines:
  - MRI brain annually until age 25 (SEGA surveillance)
  - Renal imaging every 1-3 years
  - Echocardiogram follow-up
  - Developmental monitoring
  - Ophthalmology annually

**Developmental Services:**
- Early intervention referral
- Physical therapy
- Occupational therapy

### Follow-Up (2 weeks after starting vigabatrin)

**Clinical Response:**
- Spasm frequency reduced by >90%
- Only 1-2 isolated spasms per day (from 20-30 daily)
- Parent report improved alertness and eye contact

**Repeat EEG:**
- Resolution of hypsarrhythmia
- Mild background slowing (expected)
- No electroclinical spasms captured

**Vigabatrin dose:** Increased to 100 mg/kg/day

### Follow-Up (3 months)

- Spasms completely resolved
- Developmental trajectory improving - regaining social smile
- EEG: No hypsarrhythmia, focal epileptiform discharges from tuber regions
- Ophthalmology (baseline): No visual field deficits
- Genetic testing confirmed: Pathogenic TSC2 mutation

### Teaching Points

1. **Infantile spasms (West syndrome) is a neurological emergency** - early treatment improves outcomes

2. **Classic triad:** Infantile spasms + hypsarrhythmia + developmental regression

3. **Spasms typically occur in clusters upon awakening** - flexor or extensor

4. **Always examine skin under Wood's lamp** - ash-leaf spots suggest TSC

5. **Vigabatrin is first-line for TSC-associated infantile spasms** (>90% response rate)

6. **ACTH is first-line for non-TSC infantile spasms**

7. **TSC requires multisystem surveillance** - brain, kidneys, heart, skin, eyes

8. **Prognosis:** Unfortunately, many children with infantile spasms (especially with underlying etiology) have developmental disabilities

---

## Case 2: Duchenne Muscular Dystrophy

### Patient Demographics
- **Age:** 4 years old
- **Sex:** Male

### Chief Complaint
Mother: "He's having trouble keeping up with other kids. He can't run well and falls a lot."

### History of Present Illness
Michael is a 4-year-old boy brought by his mother for evaluation of motor difficulties. She first noticed concerns around age 2.5-3 years when he seemed slower than peers to climb stairs and had difficulty getting up from the floor. He has always had large calf muscles, which she initially thought meant he was strong. Over the past year, his teachers have reported he can't keep up during physical activities and falls frequently. He has difficulty climbing playground equipment. His mother has noticed he uses a characteristic maneuver to stand from the floor - he puts his hands on his thighs and "walks" his hands up his legs. He cannot jump. He is not declining in any other developmental areas - his speech and cognition are normal.

### Developmental History
- Language: Normal - speaks in full sentences
- Cognitive: Normal - learning colors, shapes, letters
- Fine Motor: Normal - draws, uses utensils
- Gross Motor: **Delayed** - walked at 18 months (late end of normal), always clumsy

### Family History
- Mother: Healthy
- Father: Healthy
- Maternal uncle: "Had muscle problems, was in a wheelchair, died young" - mother doesn't know diagnosis

### Physical Examination
- **General:** Alert, pleasant boy
- **Vital Signs:** Normal
- **HEENT:** Normal
- **Cardiovascular:** Regular rhythm, no murmur
- **Respiratory:** Clear
- **Musculoskeletal:**
  - **Calf pseudohypertrophy** - firm, enlarged calves bilaterally
  - Mild lumbar lordosis
  - No contractures yet
- **Neurological:**
  - **Proximal weakness:** Hip flexors 3+/5, hip extensors 3/5, knee extensors 4/5
  - Distal strength preserved: 5/5 in feet
  - **Gower's sign POSITIVE** - uses hands to climb up legs when rising from floor
  - Waddling gait
  - Cannot run
  - Cannot hop on one foot
  - Deep tendon reflexes: Reduced at knees, present at ankles
  - No fasciculations
  - Sensory: Normal

### Clinical Image
![Gower's Sign](case_02_image.jpg)

*Image: Sequential illustration of Gower's sign - the characteristic maneuver used by children with proximal muscle weakness (especially Duchenne muscular dystrophy) to rise from the floor by "walking" their hands up their thighs.*

**Image Source:** Wikimedia Commons
**Attribution:** Medical illustration, Public Domain
**URL:** https://commons.wikimedia.org/wiki/File:Gowers_sign.png

### Diagnostic Studies

**Serum Creatine Kinase (CK):**
- **Result: 18,500 U/L** (normal: <200 U/L)
- Massively elevated - consistent with muscular dystrophy

**Genetic Testing:**
- DMD gene analysis: **Large deletion of exons 45-50** detected
- Confirms diagnosis of Duchenne muscular dystrophy (out-of-frame deletion)

**Additional Studies:**
- Echocardiogram: Normal LV function (baseline)
- Pulmonary function tests: Deferred (too young for reliable spirometry)
- ECG: Normal

### Assessment and Diagnosis

**Duchenne Muscular Dystrophy (DMD)**
- X-linked recessive disorder
- Caused by mutations in dystrophin gene leading to absent dystrophin protein
- Progressive muscle weakness and degeneration
- Most common fatal genetic disorder of childhood

### Natural History of DMD

| Age | Typical Features |
|-----|------------------|
| 2-5 years | Motor delay, frequent falls, difficulty climbing, Gower's sign |
| 5-8 years | Progressive weakness, difficulty walking |
| 9-12 years | Loss of ambulation, wheelchair dependent |
| Teens | Scoliosis, respiratory decline, cardiomyopathy |
| 20s-30s | Death from respiratory or cardiac failure (without treatment) |

### Management Plan

**Corticosteroid Therapy:**
- **Deflazacort 0.9 mg/kg/day** (or prednisone 0.75 mg/kg/day)
- Prolongs ambulation by 2-3 years
- Preserves pulmonary and cardiac function
- Monitor for side effects: weight gain, behavior changes, growth suppression, osteoporosis, cataracts
- Start now while still ambulatory

**Physical Therapy:**
- Stretching program to prevent contractures (especially Achilles)
- Strengthening within limits (avoid eccentric exercise)
- Aquatic therapy
- Maintain mobility as long as possible

**Cardiac Management:**
- Baseline echocardiogram (completed - normal)
- Annual echocardiogram
- Start ACE inhibitor when LV dysfunction develops (or prophylactically by age 10)
- Annual ECG

**Pulmonary Management:**
- Baseline pulmonary function when able (typically age 5-6)
- Pulmonary function testing every 6-12 months
- Pneumococcal and influenza vaccinations
- Sleep study if symptoms of nocturnal hypoventilation
- Non-invasive ventilation (BiPAP) when indicated

**Bone Health:**
- Vitamin D and calcium supplementation
- DXA scan (baseline and periodic)
- Bisphosphonates if significant osteoporosis

**Emerging Therapies:**
- **Exon skipping therapy** - Eteplirsen (for exon 51 skipping) - not applicable to this patient's mutation
- Gene therapy trials ongoing
- Discussed with family - referred to neuromuscular center for clinical trial eligibility

**Genetic Counseling:**
- Mother is obligate carrier
- Risk to future male children: 50%
- Sisters should be tested (carrier status)
- Female carriers: screen for cardiomyopathy

**Psychosocial Support:**
- Parent support groups
- School accommodations (504 plan or IEP)
- Emotional support for patient and family
- Connected to MDA (Muscular Dystrophy Association)

### Follow-Up

**6-month visit:**
- Stable on deflazacort
- Mild weight gain (2 kg above expected)
- Walking independently
- No contractures
- Started physical therapy program

**Family counseling completed:**
- Mother tested: DMD carrier confirmed
- Mother's echocardiogram: Normal
- Parents decided against further biological children; considering adoption

### Teaching Points

1. **Gower's sign indicates proximal muscle weakness** - classic for DMD but not pathognomonic

2. **Calf pseudohypertrophy** - enlarged calves due to fatty/fibrous replacement of muscle

3. **CK is markedly elevated (10,000-50,000+ U/L)** in DMD - screen with CK if suspicion

4. **DMD is X-linked recessive** - affects boys; mothers are carriers

5. **Corticosteroids (deflazacort or prednisone) are the mainstay of treatment** - prolong ambulation and preserve cardiac/pulmonary function

6. **Cardiac and pulmonary monitoring is essential** - cardiomyopathy and respiratory failure are major causes of death

7. **Genetic counseling is critical** for family planning and identification of at-risk female carriers

8. **New therapies emerging** - exon skipping, gene therapy offer hope for some patients

---

## Case 3: Febrile Seizure with Parental Anxiety

### Patient Demographics
- **Age:** 14 months old
- **Sex:** Female

### Chief Complaint
Parents in emergency department: "She had a seizure! Is she going to be okay? Does she have epilepsy?"

### History of Present Illness
Baby Emma is a 14-month-old girl brought to the emergency department after having a seizure at home approximately 1 hour ago. Her parents describe that she developed a fever (101.8F at home) earlier today with runny nose and fussiness - they assumed she was getting a cold. While her mother was holding her, Emma's eyes suddenly rolled back, her body stiffened, and then her arms and legs began shaking rhythmically. Her lips appeared slightly blue. The episode lasted approximately 2-3 minutes, after which she was drowsy and irritable for about 15 minutes but then returned to her baseline. She has not had another episode. She has never had a seizure before.

### Past Medical History
- Healthy infant
- Born full term, no complications
- Immunizations up to date
- No developmental concerns

### Family History
- Mother had febrile seizures as a child (2 episodes, outgrew them)
- No epilepsy in family

### Physical Examination in ED

**Vital Signs:** Temp 102.4F (39.1C), HR 140, RR 30, SpO2 99%

**General:** Alert, interactive, appropriate for age; no longer drowsy

**HEENT:**
- TMs: Right TM erythematous and bulging consistent with acute otitis media
- Pharynx: Mild erythema
- No meningismus

**Neurological:**
- Alert, smiling at parents
- Normal tone and strength
- No focal deficits
- Normal fontanelle (soft, flat)

**Skin:** No rash

### Clinical Image
![Febrile Seizure Classification](case_03_image.jpg)

*Image: Comparison chart showing the distinguishing features between simple febrile seizures (generalized, <15 minutes, single in 24 hours) and complex febrile seizures (focal features, >15 minutes, or multiple in 24 hours).*

**Image Source:** Wikimedia Commons
**Attribution:** Medical education, Public Domain
**URL:** https://commons.wikimedia.org/wiki/File:Febrile_seizure_types.png

### Assessment and Diagnosis

**Simple Febrile Seizure**
- Age: 14 months (within typical range: 6 months - 5 years)
- Generalized tonic-clonic seizure
- Duration: <15 minutes (2-3 minutes)
- Single episode in 24 hours
- No focal features
- Source of fever identified: Acute otitis media

**Criteria Met for Simple Febrile Seizure:**
| Criterion | Status |
|-----------|--------|
| Age 6 months - 5 years | YES |
| Fever present | YES |
| Generalized seizure | YES |
| Duration <15 minutes | YES |
| Single in 24 hours | YES |
| No CNS infection | YES |
| No prior afebrile seizures | YES |

### Workup for Simple Febrile Seizure

**Lumbar Puncture:** NOT indicated
- Child is well-appearing, immunized, no meningeal signs
- LP is not routinely recommended for simple febrile seizures in well-appearing children 6-12 months who are immunized
- For this 14-month-old who is well-appearing and immunized, LP is not necessary

**EEG:** NOT indicated
- Does not predict recurrence or future epilepsy
- Not helpful in management

**MRI:** NOT indicated
- No focal features or concern for structural lesion

**Routine Labs:** NOT necessary for simple febrile seizure
- Can consider if source of fever unclear

### Parent Counseling (Critical Component)

**Understanding the Event:**
"Emma had what we call a febrile seizure. These happen in about 2-5% of healthy children between 6 months and 5 years old. They are triggered by fever, not by how high the fever is, but often by how rapidly the temperature rises. Febrile seizures run in families, and since you (mom) had them, Emma has a higher chance."

**Prognosis:**
"I know this was terrifying to watch, but I have reassuring news:
- Simple febrile seizures do NOT cause brain damage
- Simple febrile seizures do NOT cause developmental problems
- Most children outgrow them by age 5
- The risk of developing epilepsy is slightly higher than average (about 2-4%) but still low - most children with febrile seizures NEVER develop epilepsy"

**Recurrence Risk:**
"About 30-35% of children will have another febrile seizure, usually within the first 1-2 years. Risk factors for recurrence include:
- Young age at first seizure (Emma is 14 months - moderate risk)
- Family history of febrile seizures (YES - her mother)
- Lower temperature at time of seizure
The more risk factors, the higher the chance of recurrence."

**What to Do If It Happens Again:**
1. Stay calm
2. Place her on her side on a safe surface (floor, bed)
3. Do NOT put anything in her mouth
4. Time the seizure
5. If it lasts more than 5 minutes, call 911
6. If she turns blue or has trouble breathing, call 911
7. After the seizure, she may be sleepy - this is normal

**Fever Management:**
"Treating fever with acetaminophen or ibuprofen will make her more comfortable but does NOT prevent febrile seizures. Don't feel guilty if you 'missed' treating a fever - it wouldn't have prevented this."

**When to Seek Care:**
- Seizure lasts >5 minutes
- Multiple seizures in one day
- Focal seizure (one-sided)
- Not back to baseline within 30-60 minutes
- Signs of meningitis (stiff neck, persistent lethargy, severe headache, rash)

### Management Plan

**For Acute Otitis Media:**
- Amoxicillin 90 mg/kg/day divided twice daily for 10 days

**For Febrile Seizure:**
- No daily anticonvulsant medication indicated
- Prophylactic antiepileptics NOT recommended for simple febrile seizures

**Rescue Medication:**
- Rectal diazepam (Diastat) 0.5 mg/kg prescribed for use if seizure lasts >5 minutes
- Instructions provided on administration
- Prescription for future febrile illnesses

**Follow-Up:**
- With pediatrician in 1-2 days to ensure ear infection improving
- Return to ED if seizure recurs during this illness

### Follow-Up (Phone Call Next Day)
- Fever improving on antibiotics
- No further seizures
- Parents feeling more confident about management
- Plan to follow up with pediatrician tomorrow

### Teaching Points

1. **Simple febrile seizures are BENIGN** - do not cause brain damage or developmental problems

2. **No workup needed for classic simple febrile seizure in a well-appearing, immunized child**
   - No LP, EEG, or imaging routinely indicated

3. **Simple vs. Complex febrile seizure:**
   - Simple: Generalized, <15 min, single in 24h
   - Complex: Focal features, >15 min, OR multiple in 24h
   - Complex febrile seizures have slightly higher epilepsy risk

4. **Recurrence risk is about 30-35%** - higher if young age, family history, low temperature at seizure

5. **Prophylactic antiepileptics are NOT recommended** for simple febrile seizures - risks outweigh benefits

6. **Parent education and reassurance are the most important interventions**

7. **Rescue medication (rectal diazepam) can be prescribed** for prolonged seizures

---

## Key Teaching Points Summary

### Infantile Spasms (West Syndrome)
- Neurological emergency - early treatment improves outcomes
- Triad: Spasms + hypsarrhythmia + developmental regression
- Vigabatrin first-line for TSC-associated cases
- ACTH first-line for non-TSC cases
- Look for ash-leaf spots (TSC)

### Duchenne Muscular Dystrophy
- X-linked; affects boys; CK massively elevated
- Gower's sign and calf pseudohypertrophy are classic
- Corticosteroids prolong ambulation
- Cardiac and pulmonary monitoring essential
- Genetic counseling for family

### Febrile Seizures
- Simple febrile seizures are benign - no workup needed
- 2-4% risk of future epilepsy (still low)
- 30-35% recurrence risk
- Parent reassurance is the primary intervention
- No prophylactic antiepileptics indicated