Can a 3-year-old child with a history of staring spells since 4 months old, normal electroencephalograms (EEGs) and 24-hour EEG, and low-lying tonsils (approximately 4 cm in size) be diagnosed with chronic traumatic encephalopathy (CTE) given the progression of symptoms, including coughing and choking spells during sleep, speech difficulties (stuttering and stamping), sensitivity to light, migraines, and vision disturbances, particularly during periods of developmental milestones?

Chiari Malformation Assessment in a Young Child with Complex Neurological Symptoms

This child does not have chronic traumatic encephalopathy (CTE), but the constellation of symptoms—particularly the sleep-related coughing/choking episodes, staring spells, visual disturbances, and speech difficulties—warrants urgent evaluation for Chiari I malformation and other structural abnormalities, not reassurance based on normal EEGs alone.

Understanding the Clinical Picture

The symptoms described are inconsistent with CTE, which is a neurodegenerative disease associated with repetitive head trauma in adults and has never been definitively diagnosed in living patients, let alone toddlers 1. The "low line tonsils at 4 cm" likely refers to cerebellar tonsillar descent, which is the hallmark of Chiari I malformation.

Key Distinguishing Features

Staring Spells with Normal EEGs:

• Multiple normal EEGs (including 24-hour monitoring) make epileptic seizures highly unlikely 2, 3
• In children with staring spells and normal EEGs, nonepileptic events are the most probable diagnosis, particularly in younger children with developmental concerns 3
• However, staring spells beginning at 4 months of age with this complex symptom progression require structural evaluation beyond EEG 1

Sleep-Related Respiratory Symptoms:

• The pattern of coughing and choking episodes occurring cyclically every 30 minutes during sleep is highly concerning for obstructive sleep-disordered breathing 1
• In children under 3 years with Chiari I malformation, abnormal oropharyngeal function is the most common presenting symptom, not headache 1
• These respiratory symptoms during sleep can represent brainstem compression or dysfunction from tonsillar herniation 1

Urgent Diagnostic Evaluation Required

MRI is the essential first-line imaging modality and should be performed immediately 1, 4:

• MRI brain without contrast with sagittal T2-weighted sequences of the craniocervical junction is the study of choice for Chiari I malformation 1
• Optional phase-contrast CSF flow study at the craniocervical junction can assess for impaired CSF dynamics 1
• The presence of 4 cm tonsillar descent (if this measurement is accurate) would be highly significant, as Chiari I is typically defined as ≥5 mm descent, but even lesser degrees can be symptomatic 1

Additional imaging considerations:

• MRI complete spine should be obtained to evaluate for syringohydromyelia, which commonly accompanies Chiari malformation and could explain the progressive symptoms 5
• Coronal fat-saturated T2-weighted sequences of the orbits should be included to evaluate for signs of increased intracranial pressure given the visual symptoms and migraines 1

Why These Symptoms Cluster During Developmental Milestones

The worsening of symptoms during periods of rapid developmental progress (2-3 week cycles) may reflect:

• Increased metabolic demands during developmental spurts in the context of compromised CSF flow or brainstem compression 1
• The progression from isolated sleep symptoms to include visual disturbances, migraines, photophobia, and speech difficulties suggests evolving neurological compromise 1
• Viral illnesses (rhinovirus) may exacerbate symptoms through increased inflammation or edema in an already compromised posterior fossa 1

Speech and Visual Symptoms

Speech difficulties (stuttering and "stamping"):

• These could represent cerebellar dysfunction from Chiari malformation affecting motor coordination of speech 1
• The progression to 20-30 minute staring episodes during illness is concerning and may represent altered consciousness from brainstem dysfunction rather than seizures, given normal EEGs 1, 2

Visual disturbances and photophobia:

• Fear of visual patterns (cracks, carpet, tile) combined with photophobia and migraines suggests possible increased intracranial pressure or visual processing abnormalities 1
• These symptoms warrant evaluation for papilledema and optic nerve abnormalities on MRI 1

Critical Next Steps

1. Obtain MRI brain and complete spine immediately with attention to the craniocervical junction 1, 5
2. Ophthalmologic examination to assess for papilledema or other signs of increased intracranial pressure 1
3. Polysomnography to objectively document the sleep-disordered breathing, though this should not delay neuroimaging 1
4. Neurosurgical consultation if Chiari malformation or other structural abnormality is confirmed 1

Common Pitfalls to Avoid

• Do not be falsely reassured by normal EEGs—structural brain abnormalities require structural imaging, not just electrophysiologic studies 1
• Do not attribute all symptoms to behavioral or developmental issues in a child this young with such a specific pattern of progressive neurological symptoms 1
• Do not delay imaging based on the episodic nature of symptoms—the progression and clustering during developmental periods and illness suggests an underlying structural problem being unmasked by increased physiologic demands 1

The unusual features in this child's history (staring spells from infancy, sleep-related respiratory symptoms, visual disturbances, speech regression, and symptom clustering) mandate additional structural evaluation beyond EEG, as recommended for children with atypical presentations 1.