Abnormal neuromuscular transmission in an infantile myasthenic syndrome.
A term infant required intubation for respiratory depression. Examination revealed hypotonia and areflexia with intact extraocular movements. Electrodiagnostic studies demonstrated defective neuromuscular transmission characterized by borderline low motor evoked amplitudes, profound decremental responses at all stimulation rates, and moderate facilitation (50 to 740%) 15 seconds after 5 seconds of 50 Hz stimulation. Repetitive muscle action potential responses were not recorded following stimulation of nerves by single shocks. Sensory evoked responses and needle electromyographic findings were normal, as were acetylcholine receptor antibody levels. Results of muscle histochemical analyses, including acetylcholinesterase stains, were normal. End-plate histometric analyses demonstrated only a slight reduction in mean synaptic vesicle diameter compared with that in an adult control subject. In vitro muscle contractile properties, stimulating the muscle directly, were normal. Anticholinesterase medications were ineffective. Guanidine produced clinical deterioration. The amplitude of motor evoked responses progressively declined, whereas the percentage of decrement and amount of post-tetanic facilitation increased. Although the nature of the transmission defect was not identified, the data are consistent with abnormal acetylcholine resynthesis, mobilization, or storage without abnormality of release or receptors.
D000110:Acetylcholinesterase / Q000378:metabolism; D002038:Bungarotoxins / Q000378:metabolism; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D009045:Motor Endplate / Q000473:pathology; D009046:Motor Neurons / Q000502:physiology; D009119:Muscle Contraction; D009157:Myasthenia Gravis / Q000151:congenital* / Q000473:pathology / Q000503:physiopathology; D009431:Neural Conduction; D009469:Neuromuscular Junction / Q000503:physiopathology*; D010525:Peripheral Nerves / Q000503:physiopathology; D011950:Receptors, Cholinergic / Q000378:metabolism; D012677:Sensation / Q000502:physiology; D009435:Synaptic Transmission
D002038:Bungarotoxins; D011950:Receptors, Cholinergic; D000110:Acetylcholinesterase