TY - JOUR
T1 - Diagnosis of DOK7 congenital myasthenic syndrome during pregnancy
T2 - A case report and literature review
AU - Fernandes, Marco
AU - Caetano, André
AU - Pinto, Miguel
AU - Medeiros, Elmira
AU - Santos, Luís
PY - 2021/4
Y1 - 2021/4
N2 - Introduction: Pregnancy among patients with congenital myasthenic syndrome (CMS) is a rare occurrence. Since most of the patients with CMS reach adulthood, questions regarding clinical outcome with pregnancy arise. Case report: We describe a 38-year-old Portuguese female who presented in the second trimester of pregnancy with proximal fluctuating limb-girdle weakness, hyperlordosis, waddling gait, dysphagia, dysphonia and ptosis, with no ophthalmoparesis. Initial diagnosis of seronegative myasthenia, supported by neurophysiology findings, led to unsuccessful treatment with intravenous immunoglobulin, pyridostigmine, prednisolone and plasmapheresis, and the patient slowly progressed to a severe tetraparesis with facial and bulbar involvement. Genetic testing for CMS identified a novel compound heterozygous mutation (c.1124_1127dupTGCC and c.935_936del) in the DOK7 gene. Subsequent treatment with salbutamol resulted in substantial clinical benefit. Conclusions: This case underlines the importance of considering the diagnosis of CMS in patients with fluctuating weakness during pregnancy. Patients of child-bearing potential diagnosed with CMS, particularly due to DOK7 mutations, should be counseled in advance and closely followed during pregnancy.
AB - Introduction: Pregnancy among patients with congenital myasthenic syndrome (CMS) is a rare occurrence. Since most of the patients with CMS reach adulthood, questions regarding clinical outcome with pregnancy arise. Case report: We describe a 38-year-old Portuguese female who presented in the second trimester of pregnancy with proximal fluctuating limb-girdle weakness, hyperlordosis, waddling gait, dysphagia, dysphonia and ptosis, with no ophthalmoparesis. Initial diagnosis of seronegative myasthenia, supported by neurophysiology findings, led to unsuccessful treatment with intravenous immunoglobulin, pyridostigmine, prednisolone and plasmapheresis, and the patient slowly progressed to a severe tetraparesis with facial and bulbar involvement. Genetic testing for CMS identified a novel compound heterozygous mutation (c.1124_1127dupTGCC and c.935_936del) in the DOK7 gene. Subsequent treatment with salbutamol resulted in substantial clinical benefit. Conclusions: This case underlines the importance of considering the diagnosis of CMS in patients with fluctuating weakness during pregnancy. Patients of child-bearing potential diagnosed with CMS, particularly due to DOK7 mutations, should be counseled in advance and closely followed during pregnancy.
KW - Congenital myasthenic syndrome
KW - DOK7
KW - Neuromuscular junction
KW - Pregnancy
UR - http://www.scopus.com/inward/record.url?scp=85102251319&partnerID=8YFLogxK
U2 - 10.1016/j.clineuro.2021.106591
DO - 10.1016/j.clineuro.2021.106591
M3 - Review article
AN - SCOPUS:85102251319
SN - 0303-8467
VL - 203
JO - Clinical Neurology And Neurosurgery
JF - Clinical Neurology And Neurosurgery
M1 - 106591
ER -