This chest X-ray comes from a patient who has never cried. Ever since she was a child, she's never had tears. As a child, she was also diagnosed with adrenal insufficiency and has required chronic steroids. Some patients with a disease variant have mental retardation, deafness, peripheral neuropathy, cerebellar ataxia, and autonomic impairment. She has the hallmark finding of dysphagia of solids and liquids along with regurgitation of undigested food or saliva. She also has difficulty belching, occasional chest pain, and heartburn.
Challenge: What is this rare autosomal recessive disorder?
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ReplyDeleteThis is triple A or Allgrove syndrome, characterized by adrenal insufficency, achalasia, and alacrima. The chest X-ray shows a massively dilated esophagus.
Sources: UpToDate; Wikipedia.