Arthrogryposis multiplex congenita due to XXXX .

@entity1 @entity66 @entity649 @entity4836 @entity1109 @entity425 @entity4681 @entity2421 @entity194 @entity8491 @entity1159 @entity1736 @entity934
Two @entity1 , now 5 1/2 and 6 years of age, presented as neonates with @entity2421 , @entity1159 , @entity1736 , @entity425 , @entity1109 , and @entity649 . Fluctuations and episodic exacerbations of @entity425 necessitated respiratory support. Both @entity1 are developmentally delayed and cannot walk independently, although one @entity1 underwent bilateral tenotomies. Biochemical investigations and electromyography, including slow-rate, repetitive nerve stimulation, were normal. @entity934 receptor antibodies in serum were absent. Single-fiber electromyography with axonal stimulation revealed prolonged mean jitter in the tibialis anterior and extensor digitorum muscles, with more than 2 abnormal individual jitter values in each muscle. Muscle biopsy demonstrated normal pattern and morphology of muscle fibers; immunohistochemical staining for cholinesterase was positive. Electron microscopy revealed @entity4681 : @entity194 , flattening of primary synaptic clefts, and paucity of side branches. These findings represent one of the @entity66 (i.e., @entity934 receptor deficiency or paucity of synaptic folds). Both @entity1 improved clinically on @entity4836 therapy. Arthrogryposis congenital multiplex due to @entity8491 , as diagnosed in our @entity1 , has been reported once before. The diagnosis can be established by clinical history, neurologic examination, and electrophysiologic and pathologic findings. Clinical improvement can be achieved with high-dose anticholinesterase therapy.
