JOURNAL ARTICLE

Severe neonatal myasthenia due to maternal anti-MuSK antibodies

Anthony Béhin, Michèle Mayer, Bouchera Kassis-Makhoul, Myriam Jugie, Caroline Espil-Taris, Xavier Ferrer, Lucienne Chatenoud, Pascal Laforêt, Bruno Eymard
Neuromuscular Disorders: NMD 2008, 18 (6): 443-6
18434154
Anti-MuSK antibodies have been reported in about 40-50% of patients with seronegative myasthenia gravis. Curiously, this condition has never been reported in association with fetal or transient neonatal myasthenia gravis, despite a known female predominance. We report the case of a 22-year-old woman who developed seronegative, mild steroid-responsive myasthenia gravis. When aged 26, she gave birth to a baby boy with neonatal myasthenia gravis characterized by hypotonia, stridor and sucking difficulties. Intubation was required for a few weeks. Anti-MuSK antibodies were assessed and found positive in both patients. Progressive hydramnios during the last trimester, with a decrease in spontaneous fetal mobility in the last weeks, long-lasting stridor, ptosis and occasional difficulties in swallowing liquids till two years of age, despite anti-MuSK antibodies becoming negative, suggest a fetal onset. The possible pathophysiology of this disorder, based on recent findings on the expression and function of MuSK protein, is reviewed.

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