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The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities.

Abstract：

:The triad of adrenocortical insufficiency with alacrima and achalasia is an unusual disease entity in paediatrics. The association of autonomic and peripheral neuropathies has more commonly been reported in older individuals. We describe four children (two siblings) with this disorder, aged between 3 and 6 years at diagnosis, all of whom had clinical neurological abnormalities when examined between 6 and 8 years of age. In addition, we performed cardiovascular autonomic testing in three 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 abnormal in the only subject in which they could be measured. These results indicate that subtle neurological and, in particular, autonomic abnormalities can be detected at an early age. We propose that autonomic neuropathy be considered as an integral feature of this rare condition and suggest the term "4A" syndrome as a useful mnemonic for the association of adrenocortical insufficiency, achalasia and alacrima with autonomic and other neurological abnormalities.

journal_name

Eur J Pediatr

journal_title

European journal of pediatrics

authors

Gazarian M,Cowell CT,Bonney M,Grigor WG

doi

10.1007/BF01972967

subject

Has Abstract

pub_date

1995-01-01 00:00:00

pages

18-23

issue

1

eissn

0340-6199

issn

1432-1076

journal_volume

154

pub_type

杂志文章

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