Vitamin E deficiency asso...

Background: 

• A 51-year-old woman was admitted to the hospital with 3-month H/O vomiting, diarrhoea and weight loss.
• Unsteady on her feet with rapidly deteriorating cognition.
• Medical history included type 2 diabetes, hypothyroidism and cholecystectomy.
• Medications included levothyroxine, metformin and codeine phosphate. H/O smoking 20 cigarettes daily but consumed no alcohol. On examination,
• She was severely confused and disoriented.
• She sustained horizontal rotational nystagmus on her left lateral gaze.
• Diffuse amyotrophy was present without fasciculations.
• Power in upper limbs was the grade of MRC grade 3 proximally and distally and in lower limbs of MRC grade 2 proximally and grade 1 distally.
• Profound sensory loss to all modalities in all four limbs marked pseudoarthrosis and sensory ataxia.
• Reflexes were lost plantar responses flexor.

Labs:

• Blood tests showed abnormal liver function tests with gammaglutaryl transferase (Gamma GT) of 654 U/L,
• alkaline phosphatase 45 U/L,
• Alanine transferase (ALT) 191 U/L.
• Vitamin D was low, as was vitamin A (0.57 µmol/L; normal: 0.99-3.35).
• Fasting glucose levels were controlled and varied in the first days after admission between 68.47 mg/dL to 153.15 mg/dL.
• TSH was 1.32 mIU/L (normal: 0.30-4.50) and free thyroxine was 25.3 pmol/L (normal: 10-22).

Further investigations revealed:  

• vitamin E level of 1.1 µmol/L (normal: 9.5-41.5).
• The faecal Elastase1 level was 76 µg/gram, suggestive of severe pancreatic insufficiency.
• Computed tomography (CT) of the thorax, abdomen and pelvis showed a fatty pancreas.
• MRI of the abdomen showed no pancreatic mass.
• CSF was acellular with a protein of 0.70 g/L.
• Electrophysiology showed absent upper limbs sensory potentials with reduced but present sural responses in keeping with ganglionopathy (Left sural Sensory Action Potential 1.3 µV [normal >5], Sensory Conduction Velocity: 45.9 m/s [normal >38]).
• Motor amplitudes were reduced/low normal with normal velocities and F-waves
• EMG revealed no spontaneous activity but mild myopathic features.
• A sural nerve biopsy showed severe loss of intermediate and small myelinated axons with active axonal degeneration and regeneration clusters. TTPA sequencing was negative. A muscle biopsy was not performed.