Article
Muscle Pathology as a Diagnostic Clue to Allgrove Syndrome.
Journal of neuropathology and experimental neurology - 1 May 2017
Reimann Jens, Kohlschmidt Nicolai, Tolksdorf Karen, Weis Joachim, Kuchelmeister Klaus, Roos Andreas
Abstract excerpt
Allgrove or triple A syndrome is a rare autosomal recessive disorder that can present with a variable range of multi-system manifestations, including optic atrophy, cerebellar ataxia, upper and lower motoneuron signs and various neuropathic abnormalities. These cases are a diagnostic challenge, particularly when the eponymous combination of achalasia, Addisonianism and alacrima is incomplete. Therefore, it is in...
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