A syndrome of alacrima, achalasia, and neurologic anomalies without adrenocortical insufficiency.
We describe a single case of a 2-year, 8-month-old male child with alacrima, achalasia, and neurologic anomalies and proven clinical and laboratory evidence of normal adrenocortical function. As the child was the product of a first cousin marriage, the possibility of autosomal recessive mode of inheritance was considered. Differentiation between this syndrome and other previously described associated syndromes is illustrated. This article emphasizes the presence of multisystem anomalies as described in the presence of normal suprarenal function.
el-Rayyes
K
K
Department of Ophthalmology, Ibn-Sina Hospital, Kuwait.
Hegab
S
S
Besisso
M
M
D000015:Abnormalities, Multiple / Q000235:genetics; D000303:Adrenal Cortex Diseases; D001824:Body Constitution; D002675:Child, Preschool; D003241:Consanguinity; D004931:Esophageal Achalasia / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability; D007766:Lacrimal Apparatus Diseases / Q000235:genetics; D008297:Male; D013577:Syndrome