Allgrove syndrome: adrenal insufficiency with hypertensive encephalopathy

ABSTRACT

Allgrove syndrome or triple-A syndrome is a rare familial multisystem autosomal recessive disorder. It is characterised by triad of alacrima, achalasia and adrenal insufficiency due to adrenocorticotropin hormone [ACTH] resistance. If it is associated with autonomic dysfunction, it is termed as 4-A syndrome. This syndrome is caused by a mutation in the Achalasia - Addisonism - Alacrima [AAAS] gene on chromosome 12q13 encoding the nuclear pore protein ALADIN. A 5-year boy presented with history of fits and altered sensorium for one day. He also had increased pigmentation of body and persistent vomiting since six months of age. Laboratory investigations and imaging revealed alacrimia, achalasia and adrenal insufficiency due to ACTH resistance. He had episodes of hypertensive crises, for which he was thoroughly investigated and it was found to be due to autonomic instability. Based on clinical findings and investigations he was diagnosed as case of Allgrove syndrome or 4-A syndrome with autonomic dysfunction