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[Congenital myasthenia with esophageal involvement]
Insights
Neonatal myasthenia gravis can cause unrecognized esophageal dysfunction and gastroesophageal reflux. Treatment with neostigmine improved both myasthenia symptoms and esophageal function in an infant.
Area of Science:
- Pediatric Neurology
- Gastroenterology
- Clinical Medicine
Background:
- Persistent neonatal myasthenia gravis (MG) can present with subtle symptoms, delaying diagnosis.
- Esophageal dysfunction associated with neonatal MG has not been previously investigated.
Observation:
- A case of infant gastroesophageal reflux (GER) initially untreated.
- Development of ptosis, extraocular muscle weakness, and proximal limb weakness at 8 months.
- Rapid symptom resolution with neostigmine, indicating a neuromuscular junction disorder.
- Neuromuscular tests confirmed post-synaptic defects corrected by edrophonium chloride.
- Absence of acetylcholine receptor antibodies in the patient and her mother.
- Esophageal pH monitoring revealed significant acid reflux episodes.
- Esophageal manometry showed abnormalities in both striated and smooth muscle, responsive to neostigmine.
Findings:
- Myasthenia gravis can manifest with significant esophageal dysmotility, including impaired esophageal clearance and reduced lower esophageal sphincter pressure.
- Neostigmine effectively treated both the neuromuscular and esophageal symptoms in this infant.
Implications:
- This case highlights the potential for neonatal myasthenia gravis to cause or exacerbate gastroesophageal reflux.
- Early recognition and treatment of MG may prevent or alleviate associated esophageal complications.
- Further research into the link between MG and esophageal dysfunction is warranted.
Background:
Mild disorders associated with persistent neonatal myasthenia gravis may not be recognized for several months. Esophageal dysfunction in this type of myasthenia has never been studied.
Case Report:
A gastroesophageal reflux was diagnosed during the first weeks of life in a girl; she was not treated. At 8 month-old, she was admitted for febrile convulsions; the pyrexia was due to urinary tract infection by Escherichia coli. 4 days later, the infant displayed weakness of the eyelids and extraocular muscles. The proximal muscles of the arms were also weak. Neostigmine, 0.3 mg subcutaneously, completely removed the symptoms in a few minutes. Neuromuscular transmission tests showed a progressive decrease in eyelid muscle response on repetitive stimulation of the nerve, with a pattern of post-synaptic defects that was corrected by edrophonium chloride injection. Neither the girl nor her mother had acetylcholine receptor antibodies. Overnight monitoring of the distal esophagus pH showed numerous episodes of acid reflux, essentially after the meal. Manometry disclosed abnormalities of both the striated and smooth muscles of the esophagus that were corrected with neostigmine. The girl was given neostigmine and was in good condition one year later.
Conclusion:
Myasthenia could worsen and/or trigger a gastroesophageal reflux by decreasing esophageal clearance and lower esophageal sphincter pressure.