Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C.

摘要

The patient, now 11 years old, is a girl born by elective cesarean section after an uneventful pregnancy. Neonatal findings were normal. She has two healthy siblings and healthy parents. Lack of eye contact was noted at 6 weeks of age, and strabismus, intermittent nystagmus, and mild hypotonia were noted at 4 months of age. Some febrile tonic-clonic seizures were observed between the ages of 1 and 7 years. Several atypical seizures with myoclonic jerks were also noted. Standard electroencephalographic (EEG) record was normal at the age of 1 year, but a few months later a generalized epileptiform pattern was present. Repeat EEG attempts at the ages of 6 and 8 years were unsuccessful because of lack of cooperation. The patient's epilepsy was never troublesome and no recurrences have been noted after the cessation of low-dose valproate treatment at the age of 8 years.