Three siblings from consanguineous parents, originating from Tanzania, presented with symptoms of complete or partial agenesis of the corpus callosum. Two males had in addition a sensorimotor neuropathy, moderate mental retardation and skeletal dysmorphism (Andermann syndrome). A study of sural nerve biopsies revealed thickening of the perineurium and reduction in the number of large myelinated fibres with axonal degeneration. Muscle biopsies showed neurogenic atrophy. The Andermann syndrome is autosomal recessive and almost exclusively confined to the region of Charlevoix and Saguenay-Lac-St-Jean (Quebec, Canada). Moreover in families with the Andermann syndrome, no siblings with only agenesis of the corpus callosum have been described.
Background. Guillain-Barré syndrome (GBS) has many variants with distinct presentations. Ptosis as an initial presentation is rare. Case Report. We describe a young female with bilateral ptosis without ophthalmoplegia as the initial presentation of Guillain-Barré ptosis in an anti-GQ1b IgG antibody negative patient with a favorable outcome to intravenous immunoglobulins. Objectives. Our paper highlights the importance of recognizing GBS as a potential etiology in a patient presenting with isolated ptosis, particularly since the course of GBS can be more dramatic than in the anti-GBQ1b syndromes such as ophthalmoparesis without ataxia and Miller Fisher syndrome or ocular myasthenia. Conclusion. This is the first paper of anti-GBQ1b antibody negative GBS presenting with isolated ptosis without ophthalmoparesis. GBS should be included in the list of differential diagnosis of such presentations.
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