Interesting neuroimaging findings in a child with hyperlipidemia: a case report

Neurological manifestations are rare in hyperlipidemia; however, extreme hypertriglyceridemia may cause “milky” blood and cerebrospinal fluid (CSF) and may compromise the central nervous system. We report an infant with familial hyperlipidemia who presented with seizures and unusual neuroimaging findings, including fat deposition in the cerebral vasculature and intracranial xanthomas. A 2-month-old boy, previously healthy, presented with fever, followed by a focal seizure. His parents are consanguineous. His perinatal history and early development are unremarkable. Physical examination revealed no abnormal findings. During phlebotomy, the blood appeared lipemic with a distinctive ‘salmon-colored’ hue. Laboratory work-up revealed severe hypertriglyceridemia with normal pancreatic enzymes; other metabolic, hematologic, and infectious evaluations were unremarkable. Non-contrast brain CT and MRI showed fat within the dural venous sinuses and cortical veins, along with two extra-axial, fat-containing intracranial lesions in the left parietal and right frontal regions. The patient was treated with anticonvulsant medications, antiplatelet therapy, and a specialized low-fat formula, resulting in significant improvement in lipid levels and clinical stabilization. In severe hypertriglyceridemia causing visible lipemia of blood, blood viscosity increases and perfusion in the microcirculation can be impaired. Hyperviscosity and the toxic effect of lipid particles on the endothelium may lead to vascular injury in the brain. Accumulation of lipid in intracranial blood vessels can extravasate through the injured blood-brain barrier to CSF and brain parenchyma. Intracranial xanthoma, parenchymal hemorrhage and infarction are considered as the complications. In infants presenting with seizures or stroke-like signs alongside lipemic blood, clinicians should consider hyperlipidemia-induced neurovascular injury. Neuroimaging signs such as fat-density vessels or lesions should prompt an evaluation for dyslipidemia.