THE 4A SYNDROME - ADRENOCORTICAL INSUFFICIENCY ASSOCIATED WITH ACHALASIA, ALACRIMA, AUTONOMIC AND OTHER NEUROLOGICAL ABNORMALITIES

The triad of adrenocortical insufficiency with alacrima and achalasia is an unusual disease entity in paediatrics. The association of autono mic and peripheral neuropathies has more commonly been reported in old er individuals. We describe four children (two siblings) with this dis order, aged between 3 and 6 years at diagnosis, all of whom had clinic al neurological abnormalities when examined between 6 and 8 years of a ge. In addition, we performed cardiovascular autonomic testing in thre e subjects: heart rate variation during deep breathing was abnormal in all three; Valsalva ratio was abnormal in two; and postural systolic blood pressure response was abnormal in one. Pupillary reflexes were a bnormal in the only subject in which they could be measured. These res ults indicate that subtle neurological and, in particular, autonomic a bnormalities can be detected at an early age. We propose that autonomi c neuropathy be considered as an integral feature of this rare conditi on and suggest the term ''4A'' syndrome as a useful mnemonic for the a ssociation of arenocortical insufficiency, achalasia and alacrima with autonomic and other neurological abnormalities.