Introduction. Childhood onset myasthenia gravis associated with
anti-muscle-specific tyrosine kinase antibodies is very rare and atypical in
presentation. Case report. As a baby, the pre-sented patient was choking and
sleeping with open eyes. She had weak cry and breathing difficulties. In
childhood, there were frequent falls and fluctuating swallowing difficulties.
At the age of 19 she was misdiagnosed with Miller Fisher syndrome due to the
presence of diplopia, ataxia and hyporeflexia with spontaneous recovery.
Repetitive nerve stimulation test was normal. Four years later, after several
relapses, there was significant decrement on facial muscles. Neostigmine test
was negative, provoking muscle fasciculations. Serum anti-muscle-specific
tyrosine kinase antibodies were positive. With cyclosporine therapy she
achieved the minimal manifestations status. Conclusion. The presented case
confirms that childhood onset myasthenia gravis associated with
anti-muscle-specific tyrosine kinase antibodies is often with atypical
presentation and spontaneous remissions, so it could be easily misdiagnosed.
A misdiagnosed myasthenia gravis with anti-muscle-specific tyrosine kinase antibodies with possible childhood onset