OBJECTIVE: Allgrove syndrome (AS), also known as triple-A syndrome, is a rare disorder characterized by alacrima, achalasia, adrenal insufficiency, and other manifestations such as problems related to growth, puberty, and neuropsychological development. Although the genetics of this disorder have been studied extensively in recent decades, clinical information is still lacking. METHODS: We present a unique case of AS from which we have gained significant insight into its clinical course, especially the management of hypoglycemia. RESULTS: The patient initially presented with altered mental status at age 3 which was found to be due to hypoglycemia. Laboratory values confirmed primary adrenal insufficiency with isolated glucocorticoid deficiency. With additional history of alacrima, a genetic test was obtained which confirmed the diagnosis of AS. For over 10 years, we have been following her growth, puberty, and development. We experienced some challenges in managing her hypoglycemia initially. Certain metabolic effects of steroid overdose were noted. To resolve this problem, we found dextrose supplementation quite effective. CONCLUSION: The rarity and isolated glucocorticoid deficiency of AS pose clinical challenges for initial diagnosis. Hypoglycemia associated with alacrima should alert the suspicion of AS. Management of hypoglycemia in AS is complicated by achalasia and may benefit from incorporation of both glucocorticoid and dextrose supplementation to prevent side effects of steroid overdose.
OBJECTIVE: Allgrove syndrome (AS), also known as triple-A syndrome, is a rare disorder characterized by alacrima, achalasia, adrenal insufficiency, and other manifestations such as problems related to growth, puberty, and neuropsychological development. Although the genetics of this disorder have been studied extensively in recent decades, clinical information is still lacking. METHODS: We present a unique case of AS from which we have gained significant insight into its clinical course, especially the management of hypoglycemia. RESULTS: The patient initially presented with altered mental status at age 3 which was found to be due to hypoglycemia. Laboratory values confirmed primary adrenal insufficiency with isolated glucocorticoid deficiency. With additional history of alacrima, a genetic test was obtained which confirmed the diagnosis of AS. For over 10 years, we have been following her growth, puberty, and development. We experienced some challenges in managing her hypoglycemia initially. Certain metabolic effects of steroid overdose were noted. To resolve this problem, we found dextrose supplementation quite effective. CONCLUSION: The rarity and isolated glucocorticoid deficiency of AS pose clinical challenges for initial diagnosis. Hypoglycemia associated with alacrima should alert the suspicion of AS. Management of hypoglycemia in AS is complicated by achalasia and may benefit from incorporation of both glucocorticoid and dextrose supplementation to prevent side effects of steroid overdose.
Authors: B P Brooks; R Kleta; C Stuart; M Tuchman; A Jeong; S G Stergiopoulos; T Bei; B Bjornson; L Russell; J-P Chanoine; S Tsagarakis; Lr Kalsner; Ca Stratakis Journal: Clin Genet Date: 2005-09 Impact factor: 4.438
Authors: D B Grant; N D Barnes; M Dumic; M Ginalska-Malinowska; P J Milla; W von Petrykowski; R J Rowlatt; R Steendijk; J H Wales; E Werder Journal: Arch Dis Child Date: 1993-06 Impact factor: 3.791
Authors: Sara Carvalhal; Michelle Stevense; Katrin Koehler; Ronald Naumann; Angela Huebner; Rolf Jessberger; Eric R Griffis Journal: Mol Biol Cell Date: 2017-08-02 Impact factor: 4.138