Allgrove syndrome: a case report
Keywords:Allgrove syndrome (Triple A syndrome), Achalasia, Alacrimia, Adrenal insufficiency
Allgrove syndrome is an autosomal recessive disease which is characterized by Achalasia, Alacrimia and ACTH-resistant Adrenal deficiency with progressive neurological manifestations. Allgrove syndrome is caused due to mutations in AAAS gene, localized on chromosome 12q13. This report relates to an 8 years old female child who had complaints of vomting, fever, cough, hyperpigmentation and poor weight gain. Barium swallow, ophthalmic examination and ACTH stimulation test proves that patient has Allgrove’s syndrome. Management consisted of initiation of cortisone therapy which was successful in improving the hyper pigmentation. Patient was planned for surgical intervention for achalasia cardia on follow-up. Allgrove’s syndrome may be an under diagnosed disorder. High index of suspicion is needed when patients present with such complex symptoms. Diagnosing and timely intervention helps in reducing the morbidity and mortality.
Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet. 2001;10:283-90.
Cronshaw JM, Matunis MJ. The nuclear pore complex protein ALADIN is mis localized in triple A syndrome. Proc Natl Acad Sci USA. 2003;100:5823-7.
Kimber J, McLean BN, Prevett M, Hammans SR. Allgrove or 4 “A” syndrome:an autosomal recessive syndrome causing multisystem neurological disease. J Neurol Neurosurg Psychiatry. 2003;74:654-7.
Kasar PA, Khadilkar VV, Tibrewala VN. Allgrove syndrome. Indian J Pediatr. 2007;74:959-61.
Ornek K, Atilla H, Zilelioğlu G. Pediatric alacrima, achalasia, and mental retardation. J AAPOS. 2002;6:261-3.
Sarathi V, Shah NS. Triple-A syndrome. Adv Exp Med Biol. 2010;685:1-8.
Gazarian M, Cowell CT, Bonney M, Grigor WG. The “4A” syndrome:adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. Eur J Pediatr. 1995;154:18-23.