Background: Fetal acetylcholine receptor antibody-associated disorders (FARAD), caused by in utero exposure to maternal antibodies directed against the fetal acetylcholine receptor (AChR), is a rare condition occurring in newborns of myasthenic mothers. Only two cases of FARAD children born to asymptomatic mothers are published.
Case: We report a completely asymptomatic mother of two FARAD children presenting exclusively with positive AChR antibodies. After birth, the first child needed intensive care therapy due to generalized hypotonia, respiratory problems, dysphagia, necessitating tube feeding and gastrostomy. FARAD was suspected because of ptosis, a hypomimic face, and confirmed by increased AChR antibodies in the mother. The mother became pregnant again 2 years later. Since FARAD is likely to reoccur and it is known that intensity of maternal myasthenia gravis treatment determines postnatal outcome, monthly intravenous immunoglobulin (IVIG) therapy was started at 12 weeks gestational age. The second child needed a short mask ventilation for initial stabilization at birth, but her muscle weakness improved rapidly and tube feeding was not necessary. Similar to her sister a tent-shaped mouth and a somewhat myopathic face persisted, but motor milestones were reached in time.
Conclusions: These observations highlight that FARAD is an important differential diagnosis of genetically determined congenital neuromuscular disorders even in asymptomatic mothers, and that IVIG therapy during the pregnancy has the potential to improve the outcome of the children.
Keywords: Fetal acetylcholine receptor antibody-associated disorders; Fetal acetylcholine receptor inactivation syndrome; Myasthenia gravis; Neuromuscular disorders.
© 2023. Deutsche Gesellschaft für Neurologie e.V.