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The differential diagnosis of congenital facial and bulbar paresis in toddlers includes myotonic dystrophy, congenital myopathies, congenital myasthenic syndromes, Moebius syndrome, and 22q11 deletion syndrome. We report on a 6-year-old boy with a history of neonatal hypotonia and severe feeding difficulties followed by persistent isolated facial and bulbar paresis of unknown etiology. When he was 3 years old, his mother was diagnosed with myasthenia gravis (MG) and we concluded that his condition was a rare and persistent manifestation of neonatal MG.
Case reports.
The boy presented with neonatal hypotonia and poor spontaneous movements without respiratory distress or arthrogryposis. Sucking was absent; he was tube fed for 2 weeks. His tone progressively improved; he walked at 13 months but prominent facial weakness and feeding difficulties persisted. He was referred to us at 30 months with severe dysarthria. There was no complaint of fatigue or weakness. At age 5 his weight was 10 kg (<p3), his height was 86 cm (p3), and he had no ptosis or ophthalmoplegia. He had facial weakness, a constantly open mouth, and a high arched palate (figure). The soft palate was immobile and speech was extremely nasal and dysarthric. The tongue was normal. He could not whistle or blow his cheeks. Limb muscle strength and …
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