Severe malnutrition causing superior mesenteric artery syndrome in an adolescent with Triple A syndrome
-
Christy Foster
Abstract
Triple A syndrome, formerly known as Allgrove syndrome (AS), is characterized by achalasia, alacrima and adrenal insufficiency. Here we report an adolescent male with adrenal insufficiency who developed severe malnutrition secondary to a delayed diagnosis of achalasia. The severe malnutrition in our patient led to superior mesenteric artery (SMA) obstruction syndrome. Severe malnutrition to the point of SMA syndrome has not been previously described in the literature in Triple A syndrome.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Allgrove J, Clayden GS, Grant DB, Macaulay JC. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1978;1:1284–6.10.1016/S0140-6736(78)91268-0Search in Google Scholar
2. Genin E, Tullio-Pellet A, Begeot F, Lyonnet S, Abel L. Estimating the age of rare disease mutations: the example of Triple-A syndrome. J Med Genet 2004;41:445–9.10.1136/jmg.2003.017962Search in Google Scholar PubMed PubMed Central
3. Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, et al. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 2001;10:283–90.10.1093/hmg/10.3.283Search in Google Scholar PubMed
4. Huebner A, Kaindl AM, Knobeloch KP, Petzold H, Mann P, et al. The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. Endocr Res 2004;30:891–9.10.1081/ERC-200044138Search in Google Scholar
5. Toromanovic A, Tahirovic H, Milenkovic T, Koehler K, Kind B, et al. Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome. Eur J Pediatr 2009;168:317–20.10.1007/s00431-008-0758-2Search in Google Scholar PubMed
6. Dumic M, Barisic N, Rojnic-Putarek N, Kusec V, Stanimirovic A, et al. Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy. Eur J Pediatr 2011;170:393–6.10.1007/s00431-010-1314-4Search in Google Scholar PubMed
7. Tsigos C, Arai K, Latronico AC, DiGeorge AM, Rapaport R, et al. A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome. J Clin Endocrinol Metab 1995;80:2186–9.Search in Google Scholar
8. Kasirga E, Ozkinay F, Tutuncuoglu S, Aydogdu S, Colakoglu Z, et al. Four siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous family. Clin Genet 1996;49:296–9.10.1111/j.1399-0004.1996.tb03791.xSearch in Google Scholar PubMed
9. Papageorgiou L, Mimidis K, Katsani KR, Fakis G. The genetic basis of triple A (Allgrove) syndrome in a Greek family. Gene 2013;512:505–9.10.1016/j.gene.2012.10.008Search in Google Scholar PubMed
10. Onat AM, Pehlivan Y, Buyukhatipoglu H, Igci YZ, Okumus S, et al. Unusual presentation of triple A syndrome mimicking Sjogren’s syndrome. Clin Rheumatol 2007;26:1749–51.10.1007/s10067-006-0498-5Search in Google Scholar PubMed
11. Chandramohan SM, Jegadeesan M, Devineni S. Dysphagia for 2 decades in a 24-year-old woman: an unusual cause. Gastroenterology 2013;144:e11–2.10.1053/j.gastro.2012.09.047Search in Google Scholar PubMed
12. Houlden H, Smith S, De Carvalho M, Blake J, Mathias C, et al. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain 2002;125(Pt 12):2681–90.10.1093/brain/awf270Search in Google Scholar PubMed
13. Alakeel A, Raynaud C, Rossi M, Reix P, Jullien D, et al. [Allgrove syndrome]. Ann Dermatol Venereol 2015;142:121–4.10.1016/j.annder.2014.11.012Search in Google Scholar PubMed
14. Nakamura K, Yoshida K, Yoshinaga T, Kodaira M, Shimojima Y, et al. Adult or late-onset triple A syndrome: case report and literature review. J Neurol Sci 2010;297:85–8.10.1016/j.jns.2010.07.006Search in Google Scholar PubMed
15. Moore PS, Couch RM, Perry YS, Shuckett EP, Winter JS. Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima. Clin Endocrinol 1991;34:107–14.10.1111/j.1365-2265.1991.tb00279.xSearch in Google Scholar PubMed
16. Miller WL, Flück CE. Adrenal cortex and its disorders. In: Sperling MA, editor. Pediatric endocrinology. Philadelphia: Elsevier, 2014:512.Search in Google Scholar
17. Luigetti M, Pizzuti A, Bartoletti S, Houlden H, Pirro C, et al. Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency. J Neurol Sci 2010;290:150–2.10.1016/j.jns.2009.12.005Search in Google Scholar PubMed
18. Bustanji H, Sahar B, Huebner A, Ajlouni K, Landgraf D, et al. Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty. J Pediatr Endocrinol Metab 2015;28:933–6.10.1515/jpem-2014-0401Search in Google Scholar PubMed
19. Sarathi V, Shah NS. Triple-A syndrome. Adv Exp Med Biol 2010;685:1–8.10.1007/978-1-4419-6448-9_1Search in Google Scholar PubMed
20. Soderbergh A, Winqvist O, Norheim I, Rorsman F, Husebye ES, et al. Adrenal autoantibodies and organ-specific autoimmunity in patients with Addison’s disease. Clin Endocrinol 1996;45:453–60.10.1046/j.1365-2265.1996.8040813.xSearch in Google Scholar PubMed
21. Baltazar U, Dunn J, Floresguerra C, Schmidt L, Browder W. Superior mesenteric artery syndrome: an uncommon cause of intestinal obstruction. South Med J 2000;93:606–8.10.1097/00007611-200093060-00014Search in Google Scholar
22. Roy A, Gisel JJ, Roy V, Bouras EP. Superior mesenteric artery (Wilkie’s) syndrome as a result of cardiac cachexia. J Gen Intern Med 2005;20:C3–4.10.1007/s11606-005-0237-7Search in Google Scholar
©2016 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Review
- An update on thyroid-associated ophthalmopathy in children and adolescents
- Mini Review
- Systematic review and meta-analysis of the association between mumps during childhood and risk of type 1 diabetes mellitus
- Original Articles
- Glycemic variability predicts inflammation in adolescents with type 1 diabetes
- Prevalence and risk factors for diabetic retinopathy in a hospital-based population of Australian children and adolescents with type 1 diabetes
- One month of omega-3 fatty acid supplementation improves lipid profiles, glucose levels and blood pressure in overweight schoolchildren with metabolic syndrome
- The outcome of seven patients with hereditary tyrosinemia type 1
- Increased oxidative stress parameters in children with moderate iodine deficiency
- Relationship between 25(OH)D levels and circulating lipids in African American adolescents
- Endoglin and obestatin levels, cardiometabolic risk factors and subclinical atherosclerosis in children aged 10–18 years
- Lipoprotein-associated phospholipase A2 activity and low-density lipoprotein subfractions after a 2-year treatment with atorvastatin in adolescents with type 1 diabetes
- Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center
- Pituitary volume in children with growth hormone deficiency, idiopathic short stature and controls
- Case Reports
- A novel insulin receptor mutation in an adolescent with acanthosis nigricans and hyperandrogenism
- Primary hyperparathyroidism may masquerade as rickets-osteomalacia in vitamin D replete children
- Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity
- Severe malnutrition causing superior mesenteric artery syndrome in an adolescent with Triple A syndrome
- Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta
Articles in the same Issue
- Frontmatter
- Review
- An update on thyroid-associated ophthalmopathy in children and adolescents
- Mini Review
- Systematic review and meta-analysis of the association between mumps during childhood and risk of type 1 diabetes mellitus
- Original Articles
- Glycemic variability predicts inflammation in adolescents with type 1 diabetes
- Prevalence and risk factors for diabetic retinopathy in a hospital-based population of Australian children and adolescents with type 1 diabetes
- One month of omega-3 fatty acid supplementation improves lipid profiles, glucose levels and blood pressure in overweight schoolchildren with metabolic syndrome
- The outcome of seven patients with hereditary tyrosinemia type 1
- Increased oxidative stress parameters in children with moderate iodine deficiency
- Relationship between 25(OH)D levels and circulating lipids in African American adolescents
- Endoglin and obestatin levels, cardiometabolic risk factors and subclinical atherosclerosis in children aged 10–18 years
- Lipoprotein-associated phospholipase A2 activity and low-density lipoprotein subfractions after a 2-year treatment with atorvastatin in adolescents with type 1 diabetes
- Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center
- Pituitary volume in children with growth hormone deficiency, idiopathic short stature and controls
- Case Reports
- A novel insulin receptor mutation in an adolescent with acanthosis nigricans and hyperandrogenism
- Primary hyperparathyroidism may masquerade as rickets-osteomalacia in vitamin D replete children
- Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity
- Severe malnutrition causing superior mesenteric artery syndrome in an adolescent with Triple A syndrome
- Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta
