Middle-aged female patien...

A 46-year-old female was diagnosed with Abetalipoproteinemia (ABL) in childhood. Her ptosis was corrected surgically. In retrospect, she had H/o diarrhoea in infancy that fixed upon fat restriction. She was reported to have ataxia and paraesthesia. She was commenced on high oral doses of fat-soluble vitamins approximately nine years after her diagnosis.

During her pregnancy, she was instructed to stop all intake of the vitamin. Postpartum, a right corneal ulcer was developed that required corneal transplantation after a year. Her past medical history included scalp basal cell carcinoma and oligomenorrhea. There was no family history of ABL.

On physical investigation, her weight was 56.5 kg. She had mild bilateral scleral icterus. In addition, the cranial nerve exam is standard, apart from decreased visual acuity on the right side. The gait was wide-based. Romberg test was positive. The motor exam showed normal tone and power in major muscle groups with absent knee reflexes. However, other physical examination was unremarkable. Lab evaluations were regular, with a slightly elevated reticulocyte count at 112 × 109/L. The blood film showed acanthocytosis, as shown in the figure.