Key result
A novel homozygous point mutation (1118C-->A) in the APO C-II gene caused severe lipid encephalopathy in an infant, whereas early treatment in a sibling yielded a normal neurological outcome.
Population
2 infants with massive hyperchylomicronemia and Apolipoprotein C-II deficiency due to a novel homozygous…
Design
Case_series
Follow-up
18 months (for the first infant)
Authors
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Suggests potential benefit of early intervention in APO C-II deficiency; hypothesis-generating and requires validation before changing practice.
Case Report (n=2)
A novel homozygous point mutation in the APO C-II gene can cause severe lipid encephalopathy in infancy, highlighting the potential benefit of early detection and treatment to prevent neurological damage.
Wilson et al. (2003) conducted a case report in Apolipoprotein C-II deficiency (n=2). Apolipoprotein C-II deficiency (1118C-->A mutation) was evaluated on Neurological outcome and developmental delay. A novel homozygous point mutation (1118C-->A) in the APO C-II gene caused severe lipid encephalopathy in an infant, whereas early treatment in a sibling yielded a normal neurological outcome.
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