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Allgrove syndrome in adulthood.

C Bentes¹, M Santos-Bento, J de Sá

¹Department of Neurology, EMG Laboratory, Hospital de Santa Maria, Av. Prof. Egas Moniz, 1600, Lisboa, Portugal.

|February 17, 2001

Summary

Allgrove syndrome, a rare condition, can mimic amyotrophic lateral sclerosis (ALS) symptoms like weakness and difficulty speaking. Early diagnosis is crucial for managing this complex neurological disorder.

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Area of Science:

Neurology
Genetics
Endocrinology

Background:

Allgrove syndrome (Triple A syndrome) is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrima, and adrenal insufficiency.
It is caused by mutations in the AAAS gene, affecting nuclear pore complex assembly.

Observation:

A 35-year-old male with a history of achalasia presented with progressive spastic tetraparesis, distal limb atrophy, dysarthria, and dysphagia.
Initial clinical suspicion was amyotrophic lateral sclerosis (ALS).
Neurophysiological studies revealed polyneuropathy and prolonged central conduction time.

Findings:

The patient later developed dysautonomic symptoms and was diagnosed with adrenal insufficiency.
A definitive diagnosis of Allgrove syndrome was established.

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The case highlights the significant clinical overlap between Allgrove syndrome and ALS.

Implications:

This case underscores the importance of considering rare genetic disorders in the differential diagnosis of seemingly common neurological conditions like ALS.
Recognizing the diverse presentations of Allgrove syndrome is crucial for timely diagnosis and management.
Further research into the neurophysiological underpinnings of Allgrove syndrome may improve diagnostic accuracy.