Allgrove syndrome with features of familial dysautonomia: A novel mutation in the AAAS gene

Acta Paediatrica, International Journal of Paediatrics

Volumn 95, Issue 9, 2006, Pages 1140-1143

  Ismail, Essam A ^a,c   Tulliot Pelet, Anna ^b   Mohsen, Ameer M ^a   Al Saleh, Qusay ^a  

^a FARWANIYA HOSPITAL   (Kuwait)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c NONE   (Kuwait)

Author keywords

Achalasia; Adrenal insufficiency; Alacrima; Allgrove syndrome; Triple A syndrome

Indexed keywords

CARBAMAZEPINE; FLUODROCORTISONE; HYDROCORTISONE; UNCLASSIFIED DRUG;

AAAS GENE; ADRENAL INSUFFICIENCY; ALLGROVE SYNDROME; ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CONVULSION; DIFFERENTIAL DIAGNOSIS; DRUG WITHDRAWAL; DYSAUTONOMIA; FEMALE; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; INTRON; MALE; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL;

ADRENAL INSUFFICIENCY; ADULT; ARABS; CHILD; DNA MUTATIONAL ANALYSIS; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; NUCLEAR PORE COMPLEX PROTEINS; PHENOTYPE;

EID: 33748673800     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1080/08035250500538999     Document Type: Article

References (14)

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.
2. Bentes C, Santos-Bento M, de Sa J, de Lurdes Sales Luis M, de Carvalho M. Allgrove syndrome in adulthood. Muscle Nerve 2001;24:292-6.
3. 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.
4. Tsao CY, Romshe CA, Lo WD, Wright FS, Sommer A. Familial adrenal insufficiency, achalasi, alacrima, peripheral neuropathy, microcephaly, normal plasma very long chain fatty acids, and normal muscle mitochondrial respiratory chain enzymes. J Child Neurol 1994;9:135-8.
5. Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, et al. Mutant WD-repeat protein in triple-A syndrome. Nature Genet 2000;26:332-5.
6. 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.
7. Kasirga E, Ozkinay F, Tutuncoglu S, Aydogdu S, Colakoglu Z, Musoglo A, et al. Four siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous family. Clin Genet 1996;49:296-9.
8. Barat P, Goizet C, Tullio-Pelet A, Puel O, Labessan C, Barthelemy A. Phenotypic heterogeneity in AAAS gene mutation. Acta Paediatr 2004;93:1257-60.
9. Salehi M, Houlden H, Sheikh A, Poretsky L. The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene. Metabolism 2005;54:200-5.
10. Schmittmann-Ohters K, Huebner A, Richter-Unruh A, Hauffa BP. Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome. Horm Res 2001;56:67-72.
11. Axelrod FB. Familial dysautonomia. In: Low PA, editor. Clinical autonomic disorders evaluation and management. Philadelphia, New York: Lippincott-Raven; 1997. p. 525-35.
12. Houlden H, Smith S, de Carvalho M, Blake J, Mathias C, Wood NW, et al. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain 2002;125:2681-90.
13. Sandrini F, Farmakidis C, Kirschner LS, Wu SM, Tulliot-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 corticotrophin. J Clin Endocrinol Metab 2001;86:5433-7.
14. Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J, Stratakis CA. Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. BMC Ophthalmol 2004;4:7. URL: http://www.biomedcentral. com/1471-2415/4/7