ZAFER PEKKOLAY, FARUK KILINÇ, Mazhar Müslüm TUNA, Hikmet SOYLU, Kenan ATEŞ, Alpaslan Kemal TUZCU

A Case Report of Allgrove Syndrome with Neurological Involvement

Allgrove syndrome is a very rare seen disorder with an autosomal recessive trait. The three characteristics of disease are alacrima, achalasia and adrenal failure. Alacrimia is the first manifestation in most cases. Achalasia and adrenal failure are seen later. Neurological involvement is rare and usually occurs in older age. A woman 22 years old admitted to our hospital with adrenal failure crisis. She had alacrimia and used teardrop for many years. Achalasia was diagnosed after evaluation of her dysphagia. Thus, diagnosis of Allgrove syndrome was done. Autonomic cardiac dysfunction and peripheral motor neuropathy were detected. In conclusion, Allgrove syndrome is rare and has life threatening potential due to adrenal failure. Early diagnosis and appropriate treatment may improve life quality and expectancy. Patients with relevant symptoms should be evaluated for autonomic neuropathy

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1. Kasar PA, Khadilkar VV, Tibrewala VN. Allgrove syndrome. Indian J Pediatr. 2007;74(10):959-61.

2. Allgrove J, Clayden GS, Grant DB, Macaulay JC. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet. 1978;1(8077):1284- 6.

3. Gazar ian M, Cowell CT, Bonney M. The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. Eur J Pediatr. 1995;154(1):18-23.

4. Sarathi V, Shah NS. Triple-A syndrome. Adv Exp Med Biol. 2010;685:1-8.

5. Aragona P, Rania L, Roszkowska AM, Puzzolo D, Micali A, Pisani A, Salzano G, Messina MF. 4A syndrome: ocular surface investigation in an Italian young patient. BMC Ophthalmol. 2014;14:155.

6. Makari G, Hoffman WH, Caroll JE. Autonomic dysfunction and adrenocortical unresponsiveness to ACTH. J Child Neurol. 1988;3(3):174-6.

7. Paterson WG. Etiology and pathogenesis of achalasia. Gastrointest Endosc Clin N Am. 2001;11(2):249-66.

8. Grant DB, Barnes ND, Dumic M, Ginalska-Malinowska M, Milla PJ, von Petrykowski W, Rowlatt RJ, Steendijk R, Wales JH, Werder E. Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome. Arch Dis Child. 1993;68(6):779-82.

9. Houlden H, Smith S, De Carvalho M, Blake J, Mathias C, Wood NW, Reilly MM. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain. 2002;125(Pt 12):2681-90.

10. Dumic R, Radica A, Jusik A, Stefanovic N, Murko Selective Z. ACTH insensitivity associated with autonomic nervous system disorders and sensory polyneuropathy. Eur J Pediatr 1987;146(6):592-4.

11. Capataz LM, Méndez PP, Rodríguez LR, Galán GE. Allgrove syndrome (triple A). Finding of a mutation not described in the AAAS gene. An Pediatr.2013;78(2):109-12.