Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.
case_report · Level V
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Abstract
The authors describe two patients with congenital myasthenic syndrome (CMS) with end plate acetylcholinesterase (AChE) deficiency caused by mutations in the collagenic tail (ColQ) of AChE: a homozygous C-terminal Y230S mutation in Patient 1 and Y430S and a C-terminal splice-site mutation in Patient 2. In Patient 1, a Prostigmin (neostigmine bromide) test failed to distinguish between AChE deficiency and a slow-channel CMS. Both patients responded dramatically to ephedrine therapy.
Medical subject headings
- Acetylcholinesterase
- Genetic Predisposition to Disease
- Myasthenic Syndromes, Congenital
- Neuromuscular Junction