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Creutzfeldt-Jakob disease with unusually extensive neuropathology in a child treated with native human growth hormone

Jacqueline Mikol1, Jean-Philippe Deslys, Wen-Quan Zou

  • 1Denis Diderot University. Jacqueline.mikol@wanadoo.fr

Clinical Neuropathology
|May 4, 2012
PubMed

Insights

Iatrogenic Creutzfeldt-Jakob disease (iCJD) occurred in a child treated with human growth hormone (hGH). This rare condition presented with unique neuropathological features, suggesting a transitional disease form.

Area of Science:

  • Neurology
  • Pathology
  • Endocrinology

Background:

  • Neonatal growth hormone (GH) deficiency requires treatment with human growth hormone (hGH).
  • Native hGH preparations carry a risk of prion transmission, leading to iatrogenic Creutzfeldt-Jakob disease (iCJD).

Observation:

  • A child treated with native hGH from 9 months to 7 years developed a progressive neurological syndrome.
  • Symptoms consistent with Creutzfeldt-Jakob disease (CJD) appeared three years after treatment cessation.
  • The patient died at age 11, with a rapid neurological decline within a year.

Findings:

  • Neuropathological examination revealed an unusual, widespread form of CJD.
  • Key features included cerebellar white matter involvement, cortico-spinal degeneration, and ballooned neurons.
  • The observed pathology suggests a transitional form between common iatrogenic CJD and panencephalopathic CJD.

Implications:

  • This case highlights the long-term risks associated with native hGH therapy.
  • The unique neuropathological findings expand our understanding of CJD variants.
  • Further research is needed to elucidate the specific mechanisms and risk factors for iCJD.

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