Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities.
We report on two brothers with achalasia, adrenocortical insufficiency, alacrima, short stature, microcephaly, ataxia, optic atrophy, and developmental delay. The parents and three sibs are unaffected. Achalasia, adrenocortical insufficiency, and alacrima comprise a recently characterized familial multisystem disorder of unknown cause. Achalasia has also been described in association with microcephaly and mental retardation in one family and ataxia, optic atrophy, and mental retardation in another. The above reports and these sibs may represent variants of a single pleiotropic recessive gene. We suggest that abnormalities of the central nervous system are a manifestation of the achalasia, adrenocortical insufficiency, alacrima syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000305:Adrenal Cortex Hormones / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D004931:Esophageal Achalasia / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000150:complications*; D013577:Syndrome; D013666:Tears / Q000378:metabolism*
D000305:Adrenal Cortex Hormones