What is the diagnosis and management of a child with facial palsy, choreoathetoid (involuntary, irregular movements) movements, speech delay, and T2 FLAIR hyperintensities in the parieto-occipital region on MRI (Magnetic Resonance Imaging)?

Diagnosis: Posterior Reversible Encephalopathy Syndrome (PRES) or Mitochondrial/Metabolic Disorder

The combination of facial palsy, choreoathetoid movements, speech delay, and bilateral parieto-occipital T2 FLAIR hyperintensities in a child most strongly suggests either posterior reversible encephalopathy syndrome (PRES) if acute, or a metabolic/mitochondrial disorder if chronic, and requires immediate MRI with gadolinium contrast, comprehensive metabolic workup, and urgent neurology referral. 1

Diagnostic Evaluation

Immediate Neuroimaging

• Brain and spinal cord MRI with gadolinium contrast is essential to exclude acute stroke, hemorrhage, hydrocephalus, demyelinating disease, or structural lesions 1
• MRI provides optimal characterization of both the facial nerve pathology and white matter abnormalities with pre- and postcontrast sequences 1
• The parieto-occipital T2 FLAIR hyperintensities warrant specific evaluation for leukodystrophies, metabolic disorders, or inflammatory conditions 1

Differential Diagnosis Framework

The clinical triad points to several possibilities:

Metabolic/Mitochondrial Disorders:

• Choreoathetoid movements combined with white matter changes raise significant concern for neurodegeneration with brain iron accumulation (NBIA) or mitochondrial disease 1
• These conditions affect basal ganglia and striatal pathways, producing the movement disorder, while simultaneously causing white matter injury 1

Cerebral Palsy Considerations:

• White matter injury patterns (periventricular leukomalacia or hemorrhagic infarctions) account for 56% of cerebral palsy cases 2
• Cortical and deep gray matter lesions (basal ganglia, thalamus) account for 18% and produce dyskinetic cerebral palsy with choreoathetosis 2
• However, cerebral palsy is non-progressive by definition—any progression of symptoms excludes this diagnosis 2

Infectious/Inflammatory Etiologies:

• Lyme disease serology is mandatory in endemic areas, as Lyme causes up to 25% of facial paralysis cases and presents with neurological manifestations 1
• CSF analysis shows 100% sensitivity for Lyme neuroborreliosis and other viral/bacterial CNS infections 3
• Ramsay-Hunt syndrome (varicella-zoster) shows 85% CSF sensitivity 3

Essential Diagnostic Tests

Lumbar Puncture:

• CSF analysis is the leading diagnostic method for infectious causes, with 100% sensitivity for Lyme neuroborreliosis and other CNS infections 3
• Cell count, protein, glucose, oligoclonal bands, and specific antibody testing should be performed 3

Metabolic Workup:

• Serum lactate, pyruvate, amino acids, and organic acids
• Very long chain fatty acids for leukodystrophies
• Genetic testing for NBIA and mitochondrial disorders
• Thyroid function tests 2

Cranial Nerve Assessment:

• Complete cranial nerve examination to determine if facial palsy is isolated CN VII involvement or part of broader cranial neuropathy syndrome 1
• This distinction is critical for narrowing the differential diagnosis 1

Management Algorithm

Immediate Interventions (Day 1)

Eye Protection (Critical):

• Implement eye protection immediately for impaired eye closure to prevent corneal injury 1
• Frequent dexpanthenol ophthalmic ointment and artificial tears throughout the day 4
• Nocturnal moisture-retaining eye shield or taping 4
• Sunglasses for outdoor protection 5

Empiric Treatment Pending Workup:

• If infectious etiology suspected and CSF results pending, consider empiric treatment based on clinical presentation 1
• For Lyme neuroborreliosis: appropriate antibiotic therapy (typically IV ceftriaxone) 1
• For varicella-zoster: antiviral therapy is mandatory 4

Specific Treatment Based on Etiology

If Infectious/Inflammatory:

• Treat based on CSF results with pathogen-specific antimicrobials 1
• Corticosteroids (prednisolone 25 mg twice daily for 10 days or 60 mg daily for 5 days with taper) if idiopathic facial palsy confirmed 4
• Note: Corticosteroid evidence is strongest for adults; benefit in children is less conclusive 5

If Metabolic/Mitochondrial:

• Discontinue any potentially offending medications causing drug-induced dyskinesia 1
• Disease-specific therapy based on identified metabolic disorder
• Screen for HLA-B*15:02 before starting carbamazepine if seizure management needed 1

If Drug-Induced:

• Immediate discontinuation of causative agent 1
• Monitor for dyskinesias every 3-6 months using Abnormal Involuntary Movement Scale if antipsychotic therapy required 1

Supportive Care

Physical and Occupational Therapy:

• Physical therapy with range-of-motion exercises for spasticity management 1
• Occupational therapy for sensory integration and motor concerns 6

Speech and Language Therapy:

• Comprehensive evaluation including oral-motor functioning, articulation, and expressive/receptive language ability 6, 1
• Consider alternative or augmentative communication systems for severe delays 6

Nutritional Support:

• Evaluate for feeding and swallowing difficulties 6
• Swallowing studies if aspiration risk present 6
• Consider gastrostomy tube if feeding difficulties persist 6

Follow-Up and Monitoring

Short-Term (First 3 Months):

• Facial nerve specialist referral if new or worsening neurologic findings develop, ocular symptoms emerge, or incomplete facial recovery at 3 months 1, 5
• Weekly assessment of eye protection adequacy and corneal integrity 5
• Monitor for seizure development (35% of cerebral palsy patients develop epilepsy) 2

Long-Term Surveillance:

• Repeat MRI if symptoms progress or new neurological deficits appear, as cerebral palsy and static injuries are non-progressive by definition 1
• Any progression suggests alternative diagnosis requiring re-evaluation 2
• Monitor for common comorbidities: chronic pain (75%), intellectual disability (49%), musculoskeletal problems (28%), behavioral disorders (26%), sleep disorders (23%) 2

Critical Pitfalls to Avoid

Diagnostic Errors:

• Do not assume Bell's palsy without excluding other causes—25% of facial palsies are not idiopathic and require specific treatment 3, 7
• Avoid premature closure by using "Bell's palsy" for all facial paralysis; this leads to anchoring bias and diagnosis momentum 7
• Bilateral facial weakness is rare in Bell's palsy and mandates alternative diagnosis investigation 5

Treatment Delays:

• Corticosteroid effectiveness decreases significantly if delayed beyond 72 hours 5, 4
• Inadequate eye protection can cause permanent corneal damage within days 5
• Delaying specialist referral for severe or persistent symptoms results in permanent complications 1

Monitoring Failures:

• Missing progression of symptoms excludes static diagnoses like cerebral palsy and requires immediate re-evaluation 2
• Failing to refer at 3 months delays access to reconstructive options and psychological support 5
• Neglecting psychological impact exacerbates depression and social isolation in children with persistent deficits 5

Prognosis Considerations

Facial Nerve Recovery:

• 70% of complete facial paralysis cases recover fully within 6 months 5
• 94% of incomplete paralysis cases achieve full recovery 5
• 30% may experience permanent weakness with synkinesis, autonomic disturbances, and contractures 4

Overall Neurological Outcome:

• Depends entirely on underlying etiology
• Early intervention maximizes neuroplasticity and minimizes secondary complications 2
• Metabolic disorders may be progressive despite treatment
• Infectious causes typically have good prognosis with appropriate antimicrobial therapy 3