Category: Rare Neurometabolic Movement Disorders
Objective: To highlight the importance of vision diminution and improvement with drugs a clue for treatable disorder like abetalipoproteinemia.
Background: A 22 years old male patient, presented with Insidious onset progressive diminution of vision since 8 years which intermittently improved after taking some capsules prescribed by an ophthalmologist and worsened again on stopping the drug. He has diplopia since 8 years, imbalance while walking since 2 years, slurring of speech with explosive quality and nasal twang since 2 years, difficulty in swallowing associated with nasal regurgitation since 1.5 years. Past history of intermittent diarrhoea lasting for a day after having heavy meals since the age of 6-7 years and improved since last 4-5 years.
Method: On examination- Pes planus, visual acuity: Finger counting at 3 feet bilaterally, colour vision impaired, retinal pigmentary changes with bull’s eye maculopathy, right eye exotropia at primary gaze, restriction of eye movement in all directions of gaze, palatal movements reduced, gag reflex: diminished. Generalised reduced muscle bulk, tone decreased in all limbs, power normal, areflexia, plantar flexor, impaired proprioception and vibration in both upper limbs distal to shoulder and in lower limbs distal to hip, pin prick and temperature normal.
Results: All routine tests including CSF was normal. MRI brain shows cerebellar atrophy. Genetic test identified mutations in the microsomal triglyceride transfer protein (MTTP) gene, confirming the diagnosis of abetalipoprotinemia.
Conclusion: Abetalipoproteinemia is a rare and treatable genetic disorder. This case highlights the clinical presentation of the disease like progresiive visual loss with intermittent improvement with medicine, diarrohea in childhood are helpful to clinicians in considering abetalipoproteinemia as a differential diagnosis. Although genetic analysis is needed for the definitive diagnosis
To cite this abstract in AMA style:
A. Kumar, S. Kumar. An interesting case of progressive vision loss and unusual gait [abstract]. Mov Disord. 2026; 41 (suppl 1). https://www.mdsabstracts.org/abstract/an-interesting-case-of-progressive-vision-loss-and-unusual-gait/. Accessed October 1, 2026.« Back to 2026 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/an-interesting-case-of-progressive-vision-loss-and-unusual-gait/