Reactions Weekly | 2021
Pyridostigmine/salbutamol
Abstract
Lack of efficacy: 2 case reports In a study, a 26-year-old man and a 3-year-old girl were described, who exhibited lack of efficacy during treatment with pyridostigmine or salbutamol for congenital myasthenic syndromes caused by SYT2 mutations [routes and dosages not stated]. Patient 1: The 26-year-old man had a history of congenital myasthenic syndromes caused by SYT2 mutations i.e. heterozygous c.1094T>C, p.Leu365Pro. The mutational analysis and genotyping were performed by using next generation sequencing and allelespecific PCR. For its treatment, he received pyridostigmine and salbutamol [albuterol]. He responded well to salbutamol, but exhibited lack of efficacy with pyridostigmine. Thereafter, he responded well to amifampridine. Patient 2: The 3-year-old girl had a history of congenital myasthenic syndromes caused by SYT2 mutations i.e. homozygous c.1191delG, p.Arg397Serfs*37. The mutational analysis and genotyping were performed by using next generation sequencing and allele-specific PCR. For its treatment, she received pyridostigmine and salbutamol [albuterol]. She responded well to pyridostigmine, but exhibited lack of efficacy with salbutamol. Thereafter, she responded well to amifampridine.