Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation,language impairment, and behavioral disorders. We describe a patient in whom argini...Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation,language impairment, and behavioral disorders. We describe a patient in whom arginine:glycine amidinotransferase was diagnosed at birth and treated at 4 months with creatine supplementation.In contrast with his 2 older sisters, he had normal psychomotor development at 18 months.展开更多
The authors report the unusual clinical and neurophysiologic features of a sporadic case of a boy carrying an 806delG mutation on the MECP2 gene. A 28- month- old boy was examined for severe developmental delay, seizu...The authors report the unusual clinical and neurophysiologic features of a sporadic case of a boy carrying an 806delG mutation on the MECP2 gene. A 28- month- old boy was examined for severe developmental delay, seizures, microcephaly, breathing dysfunction, and spontaneous and evoked myoclonic jerks of upper limbs. Neurophysiologic study proved the corticalorigin of myoclonus; however, it was not associated with signs of cortical hyperexcitability. 3- Methoxy- 4- hydroxy- phenyleth- ylene glycol and valine concentrations were low in CSF.展开更多
文摘Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation,language impairment, and behavioral disorders. We describe a patient in whom arginine:glycine amidinotransferase was diagnosed at birth and treated at 4 months with creatine supplementation.In contrast with his 2 older sisters, he had normal psychomotor development at 18 months.
文摘The authors report the unusual clinical and neurophysiologic features of a sporadic case of a boy carrying an 806delG mutation on the MECP2 gene. A 28- month- old boy was examined for severe developmental delay, seizures, microcephaly, breathing dysfunction, and spontaneous and evoked myoclonic jerks of upper limbs. Neurophysiologic study proved the corticalorigin of myoclonus; however, it was not associated with signs of cortical hyperexcitability. 3- Methoxy- 4- hydroxy- phenyleth- ylene glycol and valine concentrations were low in CSF.
