Endocrinol Metab.  2015 Dec;30(4):604-606. 10.3803/EnM.2015.30.4.604.

Allgrove (Triple A) Syndrome: A Case Report from the Kashmir Valley

• Misgar RA
• Pala NA
• Ramzan M
• Wani AI
• Bashir MI
• Laway BA

• KMID: 2169671
• DOI: http://doi.org/10.3803/EnM.2015.30.4.604

Abstract

Allgrove (Triple A) syndrome is a rare autosomal recessive disorder characterized by cardinal features of adrenal insufficiency due to adrenocorticotropic hormone (ACTH) resistance, achalasia, and alacrimia. It is frequently associated with neurological manifestations like polyneuropathy. Since its first description by Allgrove in 1978, approximately 100 cases have been reported in the literature. Here we report an 18-year-old boy diagnosed as having Allgrove syndrome, with ACTH resistant adrenal insufficiency, achalasia, alacrimia, and severe motor polyneuropathy. Alacrimia was the earliest feature evident at the age of 8 years. He presented with achalasia and adrenal insufficiency at 12 and 18 years respectively and developed neurological symptoms in the form of severe muscle wasting at the age of 15 years. Patients with Allgrove syndrome usually manifest adrenal insufficiency and achalasia during first decade of life. Our patient manifested adrenal insufficiency and achalasia in the second decade and manifested neurological dysfunction before adrenal dysfunction.

Keyword

Adrenal insufficiency; Alacrimia; Polyneuropathies

MeSH Terms

Adolescent
Adrenal Insufficiency
Adrenocorticotropic Hormone
Esophageal Achalasia
Humans
Male
Neurologic Manifestations
Polyneuropathies
Adrenocorticotropic Hormone

Figure

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  Fig. 1 Family pedigree.

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  Fig. 2 Showing wasting of thenar, hypothenar muscles and pigmentation of plamar creases.

Reference

1. Allgrove J, Clayden GS, Grant DB, Macaulay JC. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet. 1978; 1:1284–1286.

2. Clark AJ, Weber A. Adrenocorticotropin insensitivity syndromes. Endocr Rev. 1998; 19:828–843.

3. Weber A, Wienker TF, Jung M, Easton D, Dean HJ, Heinrichs C, et al. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum Mol Genet. 1996; 5:2061–2066.

4. Sandrini F, Farmakidis C, Kirschner LS, Wu SM, Tullio-Pelet A, Lyonnet S, et al. Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin. J Clin Endocrinol Metab. 2001; 86:5433–5437.

5. Kinjo S, Takemoto M, Miyako K, Kohno H, Tanaka T, Katsumata N. Two cases of Allgrove syndrome with mutations in the AAAS gene. Endocr J. 2004; 51:473–477.

6. Grant DB, Barnes ND, Dumic M, Ginalska-Malinowska M, Milla PJ, von Petrykowski W, et al. Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome. Arch Dis Child. 1993; 68:779–782.

7. Goizet C, Catargi B, Tison F, Tullio-Pelet A, Hadj-Rabia S, Pujol F, et al. Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology. 2002; 58:962–965.

8. Khong PL, Peh WC, Low LC, Leong LL. Variant of the Triple A syndrome. Australas Radiol. 1994; 38:222–224.