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Related Experiment Videos

Acute hemiplegia in one infant

C Ciofu1, I Gherghina, I Craiu

  • 1Institute for Assistance of Mother and Children Care, Bucharest, Romania.

Romanian Journal of Neurology and Psychiatry = Revue Roumaine De Neurologie Et Psychiatrie
|October 1, 1994
PubMed
Summary
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[Correlation of genetic and cytogenetic alterations in pathological aggressiveness urothelial carcinoma of the bladder: Performance of BCA-1, a mini-array comparative genomic hybridisation-based test].

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[Not Available].

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A 9-month-old infant experienced stroke due to familial hypercholesterolemia. Early diagnosis and management led to favorable outcomes, with residual hemiparesis.

Area of Science:

  • Neurology
  • Pediatrics
  • Genetics

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels.
  • Cerebrovascular events, such as stroke, are rare in infants but can occur in the context of severe dyslipidemias.
  • Early identification and management of risk factors are crucial for preventing severe complications.

Observation:

  • A previously healthy 9-month-old obese infant presented with sudden hyperthermia, seizures, and focal neurological deficits including left facial nerve palsy.
  • Cranial imaging revealed temporal-parietal infarction, suggestive of Sylvian artery occlusion.
  • The infant had a history of familial hypercholesterolemia (type IIA dyslipidemia).

Findings:

  • Cerebral infarction in an infant with familial hypercholesterolemia was diagnosed.

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  • Infectious etiologies such as cerebral abscess and herpetic encephalitis were ruled out through clinical and serologic evaluation.
  • Treatment included parenteral antibiotics, anticonvulsants, and antiedematous therapy.

    • Implications:

    • This case highlights the importance of considering genetic lipid disorders in the differential diagnosis of stroke in infants.
    • Aggressive management of dyslipidemia and associated risk factors may be critical in preventing recurrent cerebrovascular events.
    • Further research into the long-term neurological outcomes and management strategies for pediatric stroke secondary to FH is warranted.