Abetalipoproteinaemia. A case report with pathological studies.

Area of Science:

• Neuro-ophthalmology
• Medical genetics
• Neuropathology

Background:

• Abetalipoproteinemia is a rare autosomal recessive disorder of lipid metabolism.
• It is characterized by the inability to synthesize or secrete apolipoprotein B-containing lipoproteins.
• Clinical manifestations include fat malabsorption, retinitis pigmentosa, and progressive neurological dysfunction.

Observation:

• A 38-year-old patient with abetalipoproteinemia presented with detailed clinical and pathological features.
• A novel observation was a marked reduction in the velocity of ocular horizontal saccadic movements.
• Pathological examination revealed an active chronic demyelinating process.

Findings:

• The patient exhibited neurological symptoms consistent with abetalipoproteinemia, including impaired saccadic eye movements.
• Histopathological analysis confirmed a demyelinating process in the nervous system.
• Despite high doses of vitamin E, the patient showed no clinical improvement.

Implications:

• This case highlights a previously unrecorded feature of abetalipoproteinemia, specifically reduced saccadic velocity.
• The findings suggest that the demyelinating process in this condition may not be solely attributable to vitamin E deficiency or oxidative stress.
• The lack of response to vitamin E warrants further investigation into alternative therapeutic strategies and the underlying pathophysiology of neurological decline in abetalipoproteinemia.