title: The "Double A" phenotype: Portending Allgrove's syndrome and averting adrenal crisis.
abstract: BACKGROUND
  Allgrove's syndrome is a rare autosomal-recessive disorder with only about 70 cases reported thus far and is characterized by alacrima, achalasia, and ACTH insensitivity among other clinical features. However, it has a widely variable clinical presentation, which may result in such cases remaining undiagnosed.
  
  
  OBJECTIVE
  To report a patient with impending Allgrove's syndrome and to highlight the importance of clinical suspicion in diagnosing the same.
  
  
  METHODS
  A 2.5-year-old girl was diagnosed with impending Allgrove's syndrome on the basis of clinical presentation, barium swallow study, Schirmer's test, and hormonal evaluation.
  
  
  RESULTS
  A 2.5-year-old girl, born of non-consanguineous marriage, presented with failure to thrive and developmental delay with occasional vomiting on taking solid or semi-solid food for past 6 months. Examination revealed stunted weight (SDS of -4.4) and height (SDS of -4.76), and barium swallow showed presence of achalasia. On direct questioning, her mother mentioned presence of decreased tears on crying since birth, and Schirmer's test confirmed the presence of dry eyes. Baseline ACTH was slightly elevated with normal basal and post-ACTH stimulation serum cortisol. Based on these findings, impending Allgrove's syndrome was diagnosed with a plan for follow-up study of adrenal function.
  
  
  CONCLUSIONS
  Allgrove's syndrome may be an under diagnosed disorder as aclarima is often overlooked. However, a high index of clinical suspicion may help in avoiding adrenal crisis by diagnosing the condition early.
authors.affiliation: Department of Endocrinology, SSKM and IPGMER Kolkata, India.
authors.forename: Soumik
authors.initials: S
authors.lastname: Goswami
authors.forename: Ajitesh
authors.initials: A
authors.lastname: Roy
authors.forename: Rana
authors.initials: R
authors.lastname: Bhattacharjee
authors.forename: K S
authors.initials: KS
authors.lastname: Shivaprasad
authors.forename: Partha P
authors.initials: PP
authors.lastname: Chakraborty
authors.forename: Chitra
authors.initials: C
authors.lastname: Selvan
authors.forename: Anubhav
authors.initials: A
authors.lastname: Thukral
authors.forename: Kaushik
authors.initials: K
authors.lastname: Biswas
authors.forename: Sujoy
authors.initials: S
authors.lastname: Ghosh
authors.forename: Satinath
authors.initials: S
authors.lastname: Mukhopadhyay
authors.forename: Subhankar
authors.initials: S
authors.lastname: Chowdhury
keywords: Achalasia; Alacrimia; Allgrove's syndrome; adrenal insufficiency
references.citation: Brain. 2002 Dec;125(Pt 12):2681-90
references.pmid: 12429595
references.citation: J Neurol Neurosurg Psychiatry. 2003 May;74(5):654-7
references.pmid: 12700313
references.citation: Indian J Pediatr. 2007 Oct;74(10):959-61
references.pmid: 17978460
references.citation: Lancet. 1978 Jun 17;1(8077):1284-6
references.pmid: 78049