What is the diagnosis and management for a patient with persistent lower and upper extremity weakness, numbness, paresthesia, balance issues, and urinary incontinence despite normal diagnostic tests, including whole spine Magnetic Resonance Imaging (MRI), Brain MRI, Computed Tomography (CT) scan, X-ray, laboratory tests except for elevated Glutamic-Pyruvic Transaminase (GPT) and Glutamic-Oxalacetic Transaminase (GOT) levels, and Electromyography (EMG) and Nerve Conduction Velocity (NCV) tests showing no H-reflex?

Polyradiculoneuropathy (Likely Guillain-Barré Syndrome or Chronic Inflammatory Demyelinating Polyneuropathy)

This patient most likely has an acute or chronic inflammatory polyradiculoneuropathy (Guillain-Barré Syndrome or CIDP variant), not malingering, despite normal standard diagnostic tests. The clinical presentation—proximal and distal weakness, sensory symptoms, areflexia (absent H-reflex), balance impairment with positive Romberg sign, and urinary dysfunction—is classic for polyradiculoneuropathy, which can present with normal or minimally abnormal EMG/NCV in early stages or certain variants 1.

Why This Is NOT Malingering

The clinical constellation is too specific and physiologically coherent to be fabricated:

• Absent bilateral H-reflex with normal F-waves is a highly specific electrophysiologic finding that cannot be voluntarily produced and strongly suggests polyradiculoneuropathy 1
• Positive Romberg sign (falling with eyes closed) indicates objective proprioceptive/sensory ataxia from large fiber involvement, consistent with polyradiculoneuropathy affecting dorsal roots 1
• Urinary retention requiring increased pressure to void reflects autonomic dysfunction commonly seen in severe polyradiculoneuropathies 2
• Temporary paralysis with incontinence immediately after trauma suggests acute spinal shock or transient cord compression that may have triggered an inflammatory cascade 1

Clinical Features Consistent with Polyradiculoneuropathy

Motor Pattern

• Proximal AND distal weakness affecting both upper and lower extremities is characteristic of polyradiculoneuropathy, distinguishing it from length-dependent axonal neuropathies that affect distal regions first 1
• The symmetric bilateral pattern matches the typical presentation 1

Sensory Pattern

• Numbness and paresthesias ("needle sensation") affecting large fiber modalities (proprioception, vibration) cause the balance problems and positive Romberg 1
• Sensory symptoms in polyradiculoneuropathy do NOT follow the typical "stocking-glove" distribution of distal axonal neuropathies 1

Areflexia

• Diffuse loss of reflexes (evidenced by absent H-reflex bilaterally) is a hallmark of polyradiculoneuropathy, not limited to ankle reflexes alone 1
• Bilateral absence of H-reflex with normal F-waves is particularly characteristic 1

Autonomic Dysfunction

• Urinary retention/difficulty initiating urination is a recognized feature of severe polyradiculoneuropathies affecting autonomic fibers 2

Why Standard Tests May Be Normal

EMG/NCV Limitations

• Early disease or pure demyelinating variants may show minimal abnormalities on standard EMG/NCV, particularly if demyelination affects proximal nerve segments (roots, plexuses) that are not well-assessed by routine studies 1
• The absent H-reflex IS an abnormal finding and should not be dismissed as "may be normal"—bilateral absence in a young patient with these symptoms is highly significant 1
• Standard EMG samples limited muscles and may miss patchy involvement 2

MRI Limitations

• Nerve root enhancement may be subtle or absent in early polyradiculoneuropathy, and standard spine MRI protocols may not include contrast or dedicated nerve root sequences 1
• Brain and cord parenchyma are typically normal in pure peripheral nerve/root disorders 1

CSF Limitations

• Albuminocytologic dissociation (elevated protein with normal cell count) is classic but may not develop until 1-2 weeks after symptom onset 1
• Normal CSF does not exclude polyradiculoneuropathy, especially if tested early 1

Recommended Diagnostic Approach

Immediate Actions

1. Repeat lumbar puncture if initial CSF was obtained within first week of symptoms—protein elevation may develop later 1

   • Look specifically for albuminocytologic dissociation (protein >45 mg/dL with <10 cells/μL) 1
   • If cell count >50/μL, consider infectious/inflammatory causes of polyradiculitis 1

2. Obtain contrast-enhanced MRI of entire spine with dedicated nerve root sequences to look for nerve root enhancement, which may have been missed on standard sequences 1

3. Perform comprehensive autoimmune/inflammatory workup:

   • Anti-ganglioside antibodies (GM1, GQ1b, GD1b) for GBS variants 2
   • Anti-MAG antibodies if sensory symptoms predominate 2
   • ANA, RF, anti-CCP, complement levels 2
   • Serum protein electrophoresis with immunofixation to exclude paraproteinemic neuropathy 2

4. Pulmonary function testing including forced vital capacity—critical because respiratory muscle weakness can develop rapidly in GBS and is life-threatening 1

Temporal Pattern Analysis

• Acute onset (reaching maximum deficit in <4 weeks) suggests Guillain-Barré Syndrome 1
• Progressive course >8 weeks suggests Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) 1
• The history of sudden onset with trauma followed by persistent symptoms could represent either acute GBS triggered by the physical stress or a CIDP variant 1

Management Recommendations

If Acute Polyradiculoneuropathy (GBS) Suspected

Initiate immunotherapy immediately—do not wait for confirmatory tests if clinical suspicion is high, as early treatment improves outcomes:

• Intravenous immunoglobulin (IVIG) 2 g/kg divided over 2-5 days OR plasma exchange are equally effective first-line treatments 1
• Monitor respiratory function closely—admit for observation if forced vital capacity <20 mL/kg or declining 1
• Avoid corticosteroids alone—they are ineffective in GBS and may worsen outcomes 1

If Chronic Polyradiculoneuropathy (CIDP) Suspected

• IVIG, corticosteroids, or plasma exchange are all effective options 1
• Corticosteroids (prednisone 1 mg/kg/day) can be used in CIDP unlike GBS 1

Supportive Care

• Physical therapy to prevent contractures and maintain function during recovery 2
• Bladder catheterization if urinary retention is significant 2
• DVT prophylaxis with subcutaneous heparin given immobility 3
• Monitor for dysautonomia complications including cardiac arrhythmias and blood pressure instability 2

Addressing the Elevated Transaminases

The elevated GPT/GOT (150 U/L) is likely unrelated to the neurologic syndrome:

• Subcutaneous heparin (if used for DVT prophylaxis) can cause transaminase elevation 3
• Alcoholic liver disease causes disproportionate GOT elevation with GOT/GPT ratio >2, but this patient has equal elevation 4
• Non-alcoholic fatty liver disease is most common cause of mild transaminase elevation in general population
• This does NOT explain the neurologic findings and should not distract from the primary diagnosis 5

Critical Pitfalls to Avoid

• Do not dismiss absent H-reflex as "normal variant" in a symptomatic patient—this is a significant objective finding 1
• Do not attribute symptoms to malingering when objective findings (areflexia, positive Romberg, urinary retention) are present 1
• Do not delay treatment waiting for "definitive" test results—polyradiculoneuropathy is a clinical diagnosis and early immunotherapy improves outcomes 1
• Do not assume normal EMG/NCV excludes polyradiculoneuropathy—proximal demyelination and early disease may not be detected 1

The combination of proximal and distal weakness, areflexia, sensory ataxia, autonomic dysfunction, and absent H-reflex constitutes sufficient evidence for polyradiculoneuropathy diagnosis and warrants empiric immunotherapy while completing the diagnostic workup 1.