A 40-year-old lady presented a 1-month H/o, progressive distal paraesthesia and unsteadiness. Examination revealed proximal muscle weakness in the lower limbs, brisk reflexes in the upper limbs and knees, areflexia in the ankles and extensor plantar responses. Pain and temperature sensations were unimpaired. The gait was positive with dysmetria in all four limbs. Previously, she was diagnosed with COVID following a 5-year history of recurrent bronchiectasis, which was treated with IVIG. Seven years later, diarrhoea and abdominal bloating with hypocalcaemia, raised alkaline phosphatase, low folate, and iron deficiency with microcytic anaemia prompted an endoscopic duodenal biopsy.
The biopsy revealed partial villous atrophy with increased intraepithelial lymphocytes, which did not respond to a gluten-free diet or a subsequent course of oral steroids. Despite oral vitamin D replacement, she developed symptomatic Osteomalacia. Screening of other vitamin levels revealed vitamin E deficiency. she was commenced on oral vitamin A and E supplements. A liver biopsy, aged 37, showed diffuse nodular hyperplasia.
Investigation of the neurological symptoms revealed her serum vitamin E concentration was markedly low at 2 Amol/l (reference interval 11 –30). MRI revealed diffuse high signal white matter changes in the brain, as shown in the figure. Intramuscular vitamin E was started, and the serum concentration normalised after three months of combined oral and parenteral vitamin E therapy; there was an objective improvement in her paraesthesia, coordination, and ankle reflexes.
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