Four siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous family

Clinical Genetics

Volumn 49, Issue 6, 1996, Pages 296-299

  Kasirga, Erhun ^a   Özkinay, Ferda ^a   Tütüncüoǧlu, Sarenur ^a   Aydoǧdu, Sema ^a   Çolakoǧlu, Zafer ^a   Musoǧlu, Ahmet ^a   Yaǧci, Ayşe ^a   Taneli, Baha ^a   Yaǧci, Raşit V ^a  

^a EGE UNIVERSITY   (Turkey)

Author keywords

Achalasia; Alacrimia; Autosomal recessive inheritance; Familial dysautonomia (Riley Day syndrome); Glucocorticoid deficiency

Indexed keywords

HYDROCORTISONE;

ADULT; AGING; ARTICLE; AUTONOMIC DYSFUNCTION; AUTONOMIC NERVOUS SYSTEM; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; ESOPHAGUS ACHALASIA; FEMALE; GROWTH RETARDATION; HUMAN; HYDROCORTISONE BLOOD LEVEL; MALE; MENTAL DEFICIENCY; NERVOUS SYSTEM ELECTROPHYSIOLOGY; ORTHOSTATIC HYPOTENSION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE GENE; SCHOOL CHILD; SIBLING;

EID: 0029794201     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb03791.x     Document Type: Article

References (15)

1. Allgrove J, Clayden GS, Grant DB, Macauley JC. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1978: i: 1284-1286.
2. Dayalan N, Chettur L, Ramakrishnan MS. Achalasia of the cardia in sibs. Arch Dis Child 1972: 47: 115-118.
3. Dumic M, Radica A, Jusic A, Stefanovic N, Murko Z. Selective ACTH insensitivity associated with autonomie nervous sys-tem disorders and sensory polyneuropathy. Eur J Pediatr 1987: 1456: 592-594.
4. Ehrich E, Aranoff G, Johnson WG. Familial achalasia associated with adrenocortical insufficiency, alacrimia, and neurological abnormalities. Am J Med Genet 1987: 26: 637-644.
5. Frieling T, Berges W, Borchard F, Enck P, Wienbeck M. Family occurrence of achalasia and diffuse spasm of the oesophagus. Gut 1988: 29: 1595-1602.
6. Haverkamp F, Zerres K, Rosskamp R. Three sibs with achalasia and alacrimia: a separate entity different from triple A syndrome. Am J Med Genet 1989: 34: 289-291.
7. Jannik H. Autonomic neuropathy: the diagnosis. Acta Neurol Scand 1983: 67: 193-201.
8. Kilpatrick ZM, Milles SS. Achalasia in mother and daughter. Gastroenterology 1972: 62: 1042-1046.
9. Knezevic W, Bajada S. Peripheral autonomic surface potential. A quantitative technique for recording sympathetic conduction in man. J Neurol Sci 1985: 67: 239-251.
10. Nussinson E, Hager H, Samara M, Bar-Nathan N, Siplovich L. Familial achalasia with absent tear production. J Pediatr Gastroenterol Nutr 1988: 7: 284-287.
11. Smith AS. Disorder of autonomic nervous system. In: Swaiman FK, Pediatric neurology: principles and practice, vol. II. St. Louis, Baltimore, Toronto: The CV Mosby Company, 1989: 849-851.
12. Stuckey BG, Mastaglia FL, Reed WD, Pullan PT. Glucocorticoid insufficiency, achalasia, alacrimia with autonomie and motor neuropathy. Ann Intern Med 1987: 106: 62-64.
13. Swash M, Schwartz MS. Neuromuscular disease: a practical approach to diagnosis and management, 2nd edn. London, Berlin, Heidelberg, New York, Paris, Tokyo: Springer Verlag: 1988: 173.
14. Tryhus MR, Davis M, Griffith JK, Ablin DS, Gogel HK. Familial achalasia in two siblings: significance of possible hereditary role. J Pediatr Surgery 1989: 24: 292-295.
15. Tsao CY, Romshe CA, Lo WD, Wright FS, Sommer A. Familial adrenal insufficiency, achalasia, alacrimia, peripheral neuropathy, microcephaly, normal plasma, very long chain fatty acids, and normal muscle mitochondria respiratory chain enzymes. J Child Neurol 1994: 9: 135-138.