Two Libyan brothers with achalasia of the cardia, microcephaly, and mental retardation are described. The parents were first cousins and were normal, as were two other male siblings and the female twin of one of the affected brothers. This is the second family to be reported with this constellation of abnormalities. The literature is reviewed for achalasia associated with other pathological conditions.
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References
1.
Olsen AM, Harrinton SW, Moersch HJ, Andersen HAThe treatment of cardiospasm: Analysis of 12-year experience. J Thorac Surg1951;22:164-87.
2.
Weissmann G.Sjögren's syndrome: Review of the literature and report of a case with of achalasia of the esophagus. Am J Med1958;24:475-81.
3.
Koivukangas T., Simila S., Heikkin E., Rasanen O., Wasz-Hockert O.Sjögren's syndrome and achalasia of the cardia in two siblings. Pediatrics1973;51: 943-5.
4.
Simila S., Kokkonen J., Kaski M.Achalasia Sicca-Juvenile Sjögren's syndrome with achalasia and gastric hyposecretion . Eur J Pediatr1978;129:175-81.
5.
Tyce FA, Brough W.The appearance of an undescribed syndrome and the inheritance of multiple diseases in three generations of a family. Psych Res Rep Am Psych Assoc1962;15:73-9.
Vaughn WH, Williams JLFamilial achalasia with pulmonary complications in children. Radiology1973;107:407-9.
10.
Allgröve J. , Grant DB, Clayden GS, Macaulay JCFamilial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet1978;1:1284-6.
11.
Lanes R., Plotnick LP, Bynum TE, et al. Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia. J Clin Endocrinol Metab1980 ; 50:268-70.
12.
Geffner ME, Lippe BM, Kaplan SA, et al. Selective ACTH insensitivity, achalasia and alacrima; a multi-system disorder presenting in a childhood. Pediatr Res1983;17:532-6.
13.
Ambrosino MM , Genieser NB, Bangaru BS, Sklar C., Becker MHThe syndrome of achalasia of the esophagus, ACTH insensitivity and alacrima. Pediatr Radiol1986;16:328-9.
14.
Stuckey BG, Mastaglia FL, Reed WD, Pullan PTGlucocorticoid insufficiency, achalasia, alacrima with autonomic and motor neuropathy. Ann Intern Med1987;106:62-4.
Ehrich E., Aranoff G., Johnson WGFamilial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities. Am J Med Genet1987;26:637-44.
17.
Ellis FGEtiology and treatment of achalasia of cardia. Ann R Coll Surg Engl1962;30:155-82.
18.
Willis T.Pharmaceutice Rationalis. London. Arnoldi Leers1674. [Cited by Ellis FH, Olsen AMAchalasia of the esophagus. Major Probl Clin Surg1969;9:1-221.]
19.
Méry H.Les spasmes du tube digestif chez nourrissons. Rev GenClin TherapParis1906;20:51.
20.
Von-Mikulicz L.Zur pathologie und therapie des cardiospasmus . Deutsch Med Wsch1904;30:17-50.
21.
Hertz(Hürst) AF. Case of achalasia of the cardia (so-called cardio-spasm). Proc Roy Soc Med1914;8:22-5.
22.
Malm A.Cardioplasty in surgical treatment of achalasia of the esophagus. Critical review founded on experimental studies. Scand J Clinic Lab Invest (Supp. 1) 1951;3:1-89.
23.
Rickham PPAchalasia of the esophagus in young children. Clin Pediatr (Phila.)1963;2:676-80.
24.
Earlam RJ, Ellis FH Jr, Nobrega FTAchalasia of the esophagus in a small urban community. Mayo Clin Proc1969, 44:478-82.
25.
Payne WS, Ellis FH Jr, Olsen AMTreatment of cardiospasm (achalasia of esophagus) in children. Surgery1961, 50:731-5.
26.
McKusick VAMendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes in 1988. 8th edition. Baltimore: The Johns Hopkins University Press, 1987;777.
