What is the management approach for a patient presenting with choreoathetoid movements, facial palsy, speech delay, and T2 FLAIR hyperintensities in the periventricular parieto-occipital region on MRI (Magnetic Resonance Imaging)?

Management of Choreoathetoid Movements with Facial Palsy, Speech Delay, and Periventricular T2 FLAIR Hyperintensities

This presentation requires urgent neuroimaging to exclude acute stroke, spinal cord pathology, or new structural lesions, followed by systematic evaluation for underlying metabolic, genetic, infectious, or inflammatory etiologies, as the combination of movement disorder, cranial neuropathy, and white matter changes suggests a progressive neurological process rather than a static injury. 1

Immediate Diagnostic Workup

Neuroimaging Protocol

• Brain and spinal cord MRI with gadolinium contrast should be obtained emergently to exclude acute stroke, hemorrhage, hydrocephalus, demyelinating disease, or structural lesions 1, 2
• MRI is the primary modality for evaluating both the intracranial facial nerve course and white matter abnormalities, with pre- and postcontrast imaging providing optimal lesion characterization 2
• The periventricular parieto-occipital T2 FLAIR hyperintensities warrant evaluation for leukodystrophies, metabolic disorders, or inflammatory conditions 2
• 3T MRI with thin-cut high-resolution sequences through the facial nerve course (labyrinthine, geniculate, tympanic, and mastoid portions) should be performed to identify enhancement patterns suggesting inflammation, infection, or tumor 2

Exclude Infectious and Inflammatory Causes

• Lumbar puncture with CSF analysis should be performed to evaluate for CNS infections (viral, bacterial, Lyme neuroborreliosis), as CSF analysis demonstrates 85-100% sensitivity for infectious causes of facial palsy 3
• In endemic areas, Lyme disease serology is essential, as Lyme can cause up to 25% of facial paralysis cases and presents with neurological manifestations 2
• Assess for Ramsay-Hunt syndrome (varicella-zoster reactivation) by examining for vesicular eruptions in the ear canal and testing for VZV antibodies, as CSF analysis shows 85% sensitivity 3

Rule Out Acute Metabolic or Systemic Triggers

• Urinalysis and urine culture should be obtained immediately, as UTIs can cause acute neurological deterioration and occur in 15-60% of patients with neurological conditions 1
• Screen for constipation and other systemic stressors that may exacerbate movement disorders 1

Differential Diagnosis Considerations

Movement Disorder Evaluation

• The choreoathetoid movements suggest basal ganglia or striatal pathology, which combined with white matter changes raises concern for metabolic disorders, neurodegeneration with brain iron accumulation (NBIA), or mitochondrial disease 2
• CT head may help exclude cerebrovascular disease or acute infectious processes, though MRI is superior for soft-tissue characterization 2
• Genetic testing should be considered for conditions like Huntington disease (CAG repeat testing), though the presence of facial palsy and white matter changes makes this less likely 2
• FDG-PET may demonstrate neostriatal hypometabolism in neurodegenerative conditions, though this is not first-line for initial evaluation 2

Facial Palsy Workup

• The facial palsy requires assessment of all cranial nerves to determine if this is isolated CN VII involvement or part of a broader cranial neuropathy syndrome 2
• Document presence of hyperacusis, decreased lacrimation, salivation, or dysgeusia to characterize the level of facial nerve involvement 2
• Progressive facial weakness (developing over weeks to months) should be considered neoplastic until proven otherwise, requiring exploration from internal auditory canal through stylomastoid foramen into parotid gland if imaging is negative 4
• Bilateral facial palsy (if present) represents less than 2% of cases and warrants extensive workup for neurologic, infectious, neoplastic, or metabolic disorders 5

White Matter Abnormality Assessment

• Periventricular T2 FLAIR hyperintensities in a child with developmental delay suggest possible leukodystrophy, metabolic disorder, or inflammatory demyelination 2
• MRI protocol should be age-adjusted: in fully myelinated brains, obtain thin-slice 3D T1-weighted, axial/coronal T2-weighted, and 3D FLAIR sequences 2
• Diffusion tensor imaging should be obtained to inspect microscopic brain architecture and identify axonal pathfinding disorders 2

Management Algorithm After Diagnosis

If Imaging Shows Inflammatory Facial Nerve Enhancement

• Treat as infectious/inflammatory etiology based on CSF results 3
• For Lyme neuroborreliosis: initiate appropriate antibiotic therapy 2, 3
• For Ramsay-Hunt syndrome: oral steroids plus antiviral therapy within 72 hours 2
• For idiopathic Bell's palsy (diagnosis of exclusion): oral steroids within 72 hours for patients ≥16 years 2

If Movement Disorder is Primary

• Discontinue any potentially offending medications (antipsychotics, antiemetics) that could cause drug-induced dyskinesia 6
• For paroxysmal kinesigenic dyskinesia with facial involvement: initiate low-dose carbamazepine (50-200 mg/day) or oxcarbazepine (75-300 mg/day), which achieves complete remission in >85% of patients 7
• Screen for HLA-B*15:02 before starting carbamazepine to reduce risk of adverse cutaneous reactions 7
• If drug-induced tardive dyskinesia is suspected: switch to atypical antipsychotic with lower extrapyramidal symptom risk 6

Supportive Care

• Implement eye protection immediately for impaired eye closure to prevent corneal injury 2
• Physical therapy with range-of-motion exercises for spasticity management 1
• Speech and language evaluation with assessment of oral-motor functioning, articulation, and expressive/receptive language ability 2
• Occupational therapy addressing hypotonia, sensory integration, and motor concerns 2

Follow-Up and Monitoring

Reassessment Criteria

• Refer to facial nerve specialist if: (1) new or worsening neurologic findings develop, (2) ocular symptoms emerge, or (3) incomplete facial recovery at 3 months 2
• Repeat MRI if symptoms progress or new neurological deficits appear, as cerebral palsy and static injuries are non-progressive by definition 1
• Monitor for dyskinesias every 3-6 months using the Abnormal Involuntary Movement Scale if antipsychotic therapy is required 6

Electrodiagnostic Testing

• Do not perform electrodiagnostic testing for incomplete facial paralysis 2
• May offer electrodiagnostic testing for complete facial paralysis to assess prognosis 2

Critical Pitfalls to Avoid

• Never assume new symptoms represent static injury or developmental delay alone—the combination of movement disorder, cranial neuropathy, and white matter changes demands investigation for progressive pathology 1
• Do not diagnose Bell's palsy without excluding alternative etiologies—Bell's palsy is a diagnosis of exclusion made only after thorough history, physical examination, and appropriate follow-up 2, 8
• Do not delay neuroimaging, as acute stroke, spinal cord pathology, or tumor requires time-sensitive intervention 1
• Avoid routine laboratory testing or imaging for typical Bell's palsy presentation, but this case is atypical due to associated movement disorder and white matter changes 2
• Do not use contrast-enhanced MRI on the day of admission for inflammatory facial nerve lesions, as it provides no additional diagnostic information compared to delayed imaging 3
• Never misuse the term "Bell's palsy" for all facial paralysis—this leads to premature closure, anchoring bias, and missed diagnoses 8