Familial glucocorticoid deficiency, alacrimia and achalasia--Allgrove syndrome.
We report three brothers with Allgrove syndrome. All three had evidence of adrenal insufficiency and deficient tear production, though neither of them had achalasia, the third component of the disorder at the time of this report. Neurological abnormalities were present in the index case. The younger siblings were neurologically normal. The familial association of achalasia, alacrimia and adrenal insufficiency, rather than being fortuitous, is a distinct clinical entity.
Muranjan
M N
MN
Genetic Clinic, Seth G.S. Medical College, Parel, Mumbai.
Gurav
M
M
Surve
T
T
Deshmukh
C T
CT
Bharucha
B A
BA
D000309:Adrenal Insufficiency / Q000175:diagnosis* / Q000188:drug therapy; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D015352:Dry Eye Syndromes / Q000175:diagnosis*; D004931:Esophageal Achalasia; D005938:Glucocorticoids / Q000172:deficiency*; D006801:Humans; D008297:Male; D013256:Steroids / Q000627:therapeutic use; D013577:Syndrome
D005938:Glucocorticoids; D013256:Steroids