Abstract
We report for the first time in a Portuguese child a case of intracranial hypertension (ICH) in a girl with Turner syndrome under hormonal therapy with recombinant human growth hormone (rhGH). A fourteen-year-old child with Turner syndrome medicated with estrogen and rhGH 1.6 mg/ daily for 3 years followed regularly at our Pediatric Department presented with diminished vision. Myopia was diagnosed and corrected, and her best corrected visual acuity was 10/10 bilaterally. Funduscopic exam showed bilateral hyperemic optic nerve edema, confirmed by optical coherence tomography (OCT). Cranial computer scan tomography (CT) and head magnetic resonance imaging (MRI) did not show any alterations. The child was then referred to Neuropediatrics Department. Lumbar puncture revealed elevated intracranial pressure, confirming the ICH diagnosis. rhGH was discontinued. ICH is a rare condition in the pediatric population. There is a causal relationship between rhGH therapy, Turner syndrome and ICH development. To our knowledge this is the first Portuguese case report of this association. As ICH could potentially lead to irreversible vision loss, children receiving rhGH should have a routine follow-up by ophthalmology.
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