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A 36-year-old man presented with slowly progressive achalasia, alacrima, motor neuropathy, bulbar palsy, and a remarkable small, spastic, furrowed tongue (figure, A). His sister had similar manifestations and both later developed adrenal abnormalities. This classic group of symptoms was diagnostic of Allgrove (triple A) syndrome, which was later confirmed by DNA analysis of the ALADIN gene (figure, B), where mutations have been identified worldwide.1,2
The features of the Allgrove tongue in both patients have since been seen to a varying extent in all five families currently followed, indicating this finding is an important diagnostic clue to this rare syndrome.
Disclosure: The author reports no disclosures.
Address correspondence and reprint requests to Dr. Henry Houlden, MRC Centre for Neuromuscular Disease and Department of Molecular Neurosciences, The National Hospital for Neurology and Neurosurgery and The Institute of Neurology, Queen Square, London, WC1N 3BG, UK; firstname.lastname@example.org