Why the study?
Familial chylomicronemia syndrome is a rare genetic disorder with heterogeneous presentation, and acute encephalopathy is rarely described in the literature, making diagnosis and treatment challenging.
Familial chylomicronemia syndrome can rarely present in infancy with acute encephalopathy mimicking a ruptured intracranial epidermoid cyst, but symptoms are reversible with prompt lipid-lowering interventions including exchange transfusion and plasmapheresis.
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May support reversibility of encephalopathy in infantile FCS with aggressive lipid lowering; leaves open optimal regimen for prospective study.
Kalanj et al. (2024) studied this question.
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