Don't forget Allgrove syndrome in adult patients as a bulbar-ALS mimicker

IntroductionAllgrove syndrome is a genetic disorder characterized by a multisystem involvement manifesting mainly in childhood with esophageal achalasia, adrenal insufficiency, and alacrima. Associated neurological manifestations are frequent in patients with late-onset forms and include peripheral, central, and autonomic dysfunction. The definitive diagnosis remains genetic, but neurological symptoms/signs could be a relevant clue for the diagnosis.DiscussionThis syndrome is rare, but it is not impossible for it to occur in adults, so all neurologists must be alert. Moreover, in this regard, neurological symptoms can sometimes be very similar to those of motor neuron disease patients, so that, although rare, Allgrove syndrome may also enter into the differential diagnosis with the bulbar variant of amyotrophic lateral sclerosis. Nevertheless, attention to extra-neurological symptoms must remain high as these play an equally important role in reaching the diagnosis.Case ReportHere we present the case of a patient with some peculiarities that are onset at an advanced age, genetic confirmation of the diagnosis, and prominent neurological involvement, which also opens the differential diagnosis to amyotrophic lateral sclerosis.

Automated summary

Allgrove syndrome is a genetic disorder characterized by esophageal achalasia, adrenal insufficiency, and alacrima. Neurological manifestations are frequent in late-onset forms and can resemble motor neuron disease, but attention to extra-neurological symptoms remains crucial for an accurate diagnosis.