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A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism
Authors:M Putzolu  A Meloni  S Loche  C Pischedda  A Cao  P Moi
Affiliation:Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.
Abstract:Patients with idiopathic intracranial hypertension may occasionally present with coexisting lower motor neuron facial weakness. This study reviews a 6-year experience at Mayo Clinic. The aim of this study was to determine the possible association of idiopathic intracranial hypertension and facial paresis. Two cases were identified. Both fulfilled the modified Dandy's diagnostic criteria for idiopathic intracranial hypertension. Treatment consisted of steroids in one, and emergent optic nerve sheath fenestration in the other. The cranial nerve palsies resolved in both cases.
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