Allgrove Syndrome

Excerpt

The year 1978 saw the first reported case of Allgrove syndrome (AS) or 3A syndrome (AAA). It is characterized by a triad of adrenocorticotrophic hormone (ACTH) resistant adrenal insufficiency, alacrimia, and achalasia along with progressive neurological impairment with or without mild mental retardation. The molecular basis for Allgrove syndrome appears to be an autosomal recessive pattern of inheritance. Parental consanguinity and previously affected siblings are the important risk factors in family history.

The clinical presentation of classical signs and symptoms of the syndrome is dependent on the age of the patient. Ophthalmological abnormalities are usually present at birth, whereas adrenal and gastrointestinal abnormalities are apparent after six months to the first decade of life. Neurological dysfunction from the involvement of central or autonomic nervous systems is also common with Allgrove syndrome observed during the adolescent period.