"A" motor neuron disease

J Neurol Sci. 2014 Jan 15;336(1-2):251-3. doi: 10.1016/j.jns.2013.10.003. Epub 2013 Oct 8.


Importance: Allgrove syndrome is a rare autosomal recessive disorder characterised by achalasia, alacrima, adrenal insufficiency, autonomic dysfunction and amyotrophy. The syndrome has been described in childhood and adult presentation, as in our case, is very rare. There is a considerable delay in diagnosis due to lack of awareness about the syndrome.

Observations: We report a single case of a 36 year old man who was initially diagnosed and treated for achalasia cardia in our institute 14 years before. After 8 years he presented again with weakness and wasting predominantly distally. He had tongue fasciculations, brisk reflexes and extensor plantar. After supportive electrophysiological studies he was diagnosed as Amyotrophic lateral sclerosis. After 5 years he presented with generalised fatigue without any significant worsening of his neurological status. On reevaluation he had alacrimia, autonomic dysfunction and mild ACTH resistance.

Conclusions and relevance: Allgrove syndrome may be an underdiagnosed cause of multisystem neurological disease due to the heterogeneous clinical presentation as well as for ignorance of clinician about the syndrome. Based on our case, we also believe that there does exist a subgroup of patients who follow a less severe and chronic course. Recognition of syndrome allows for treatment of autonomic dysfunction, adrenal insufficiency and dysphagia.

Keywords: Achalasia; Adrenal insufficiency; Alacrimia; Allgrove syndrome; Autonomic dysfunction; Motor neuron disease.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Insufficiency / complications
  • Adrenal Insufficiency / diagnosis*
  • Adrenal Insufficiency / physiopathology*
  • Adult
  • Electromyography / methods
  • Esophageal Achalasia / complications
  • Esophageal Achalasia / diagnosis*
  • Esophageal Achalasia / physiopathology*
  • Humans
  • Male
  • Motor Neuron Disease / complications
  • Motor Neuron Disease / diagnosis*
  • Motor Neuron Disease / physiopathology*

Supplementary concepts

  • Achalasia Addisonianism Alacrimia syndrome