What is the clinical evidence from this study?

Study design: Case Report. Population: Severe hypertriglyceridemia (n=1). Intervention: Phenobarbital, enoxaparin, and low-fat formula. Primary outcome: Clinical stabilization and lipid profile reduction.

What does this research mean for the field?

Severe hypertriglyceridemia in infants can cause neurovascular injury presenting as seizures and unusual neuroimaging findings, which can be successfully stabilized using anticonvulsants, antiplatelet therapy, and a low-fat formula. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To describe the rare clinical, neurological, and neuroimaging manifestations of severe hypertriglyceridemia and familial hyperlipidemia in an infant.

April 27, 2026BMC PediatricsOpen Access

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

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Key result

Anticonvulsants, antiplatelets, and low-fat formula stabilize severe infant hypertriglyceridemia and neurovascular injury.

Why the study?

Neurological manifestations are rare in hyperlipidemia, but extreme hypertriglyceridemia can compromise the central nervous system.

Key Points

To describe the rare clinical, neurological, and neuroimaging manifestations of severe hypertriglyceridemia and familial hyperlipidemia in an infant.
Clinical, diagnostic, and genetic evaluation of a 2-month-old male infant presenting with fever and a focal clonic seizure alongside milky salmon-colored blood.
Brain assessment via non-contrast CT, magnetic resonance imaging (MRI), and magnetic resonance venography (MRV).
Therapeutic intervention consisting of phenobarbital, enoxaparin (1.5 mg/kg subcutaneous every 12 hours), and a specialized low-fat formula (Kanso-Lipano formula).
Laboratory testing demonstrated marked dyslipidemia with triglycerides of 10720 mg/dL, total cholesterol of 1320 mg/dL, LDL of 440 mg/dL, and HDL of 280 mg/dL, confirmed by genetic testing showing a homozygous lipoprotein lipase (LPL) variant (c.809G>A, p.Arg270His).
Neuroimaging confirmed fat deposition in the dural venous sinuses and cortical veins, non-visualization of flow in the anterior superior sagittal sinus, two extra-axial lipid-containing xanthomas, and diffusion restriction indicating acute left parietal venous infarction.
Implementation of anticonvulsant, anticoagulant, and low-fat dietary therapy produced clinical stabilization with no seizure recurrence and normalized blood appearance and lipid levels within one week.

Study Design

Type

Case Report (n=1)

Multicenter

Structured PICO

Population

1 infant (2-month-old male) with familial hyperlipidemia (LPL deficiency) presenting with fever and focal seizure

Intervention

Phenobarbital (1-3 mg/kg/day in 1-2 divided doses), enoxaparin (1.5 mg/kg subcutaneous every 12 hours), and specialized low-fat formula (Kanso-Lipano) for 10 days

Outcome

Clinical stabilization and improvement in lipid levels

Extreme hypertriglyceridemia in infants can cause neurovascular injury and distinctive neuroimaging findings such as intravascular fat deposition and intracranial xanthomas.

Limitations

The infant's parents and siblings did not undergo genetic testing due to financial problems.
Our patients' parents did not perform genetic testing which is a limitation of our report.

Discussion

No takes yet. Share an insight, caveat, or question.

Implication

Urges lipid testing in infants with seizures and milky CSF; extends known CNS spectrum of familial hyperlipidemia but leaves open management.

Cite This Study

Torabi et al. (2026) conducted a case report in Severe hypertriglyceridemia (n=1). Phenobarbital, enoxaparin, and low-fat formula was evaluated on Clinical stabilization and lipid profile reduction. A 2-month-old infant with severe hypertriglyceridemia (>11,000 mg/dL) and neurovascular injury was successfully stabilized using anticonvulsants, antiplatelet therapy, and a low-fat formula.

synapsesocial.com/papers/69eefd43fede9185760d3f5e https://doi.org/10.1186/s12887-026-06879-3

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Implication

Urges lipid testing in infants with seizures and milky CSF; extends known CNS spectrum of familial hyperlipidemia but leaves open management.

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

Key Points

Study Design

Structured PICO

Limitations

Discussion

Implication

Cite This Study

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

Key Points

Study Design

Structured PICO

Limitations

Discussion

Implication

Cite This Study

Also Consider

Also Consider