Autism in a case of congenital myasthenic syndrome
نویسندگان
چکیده
This patient is a 13-year old boy who is the product of intrauterine insemination from a nonconsanguineous marriage. He had a normal prenatal period including normal fetal movements and a reported normal amniocentesis carried out due to advanced maternal age (39year old at the time of pregnancy). He was born at term by vaginal delivery and with normal Apgar score. However, during the neonatal period, he was found to be severely hypotonic with a poor suck, weak cry and ptosis. He has suffered from gastro-esophageal reflux disorder (GERD) and failure to thrive (FTT) since early infancy. In order to increase his caloric intake, a gastrostomy tube (GT) was placed for feeding at 4 years of age. He was diagnosed with CMS at age eight months, and pyridostigmine was started. His myasthenia has been relatively stable since 3,4-diaminopyridine (3,4-DAP) was added to pyridostigmine at age 7.
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