The results of a British and European Paediatric Endocrinology Society, multicenter collaborative, questionnnaire study of the neurological complications of familial glucocorticoid deficiency syndrome are reported from the Hospital for Sick Children, Great Ormond Street, London. Of 20 patients identified, ages 2 to 29 years, all had impaired Cortisol secretion, 19 absent tear secretion, 15 achalasia of the cardia, and 17 had neurologic abnormalities including hyperreflexia, hypertonia, Babinski signs, muscle weakness and/or wasting, ataxia, dysarthria, and sensory impairment. Impaired autonomic function in 11 patients was manifested by postural hypotension and anisocoria. Eleven were intellectually impaired. Ten had hyperkeratosis and fissures of their palms. Siblings were affected in 3 families, and 7 siblings had died in childhood. [1]

COMMENT. The most frequent presenting symptom was hypoglycemia, often associated with addisonian skin pigmentation. In 4 cases the diagnosis of achalasia preceeded the recognition of Cortisol deficiency. The authors recommend a test of Cortisol secretion in children with achalasia, if associated with alacrima or with any of the above neurologic abnormalities.