The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities.

The triad of adrenocortical insufficiency with alacrima and achalasia is an unusual disease entity in paediatrics. The association of autonomic and peripheral neuropathies has more commonly been reported in older individuals. We describe four children (two siblings) with this disorder, aged between 3 and 6 years at diagnosis, all of whom had clinical neurological abnormalities when examined between 6 and 8 years of age. In addition, we performed cardiovascular autonomic testing in three subjects: heart rate variation during deep breathing was abnormal in all three; Valsalva ratio was abnormal in two; and postural systolic blood pressure response was abnormal in one. Pupillary reflexes were abnormal in the only subject in which they could be measured. These results indicate that subtle neurological and, in particular, autonomic abnormalities can be detected at an early age. We propose that autonomic neuropathy be considered as an integral feature of this rare condition and suggest the term "4A" syndrome as a useful mnemonic for the association of adrenocortical insufficiency, achalasia and alacrima with autonomic and other neurological abnormalities.

Acute obstructive uropathy--a rare complication of circumcision.

We report a rare complication of ritual circumcision in an 8-week-old boy. He presented 1 week after the procedure with reduced urine output, a grossly distended bladder and marked bilateral hydroureteronephrosis on ultrasonography. The acute partial urinary obstruction was due to the dressing which was applied after surgical removal of the foreskin and to oedema of the glans. He had abnormal renal function (creatinine 85 mumol/l, urea 8.5 mmol/l) and a hyperkalaemic metabolic acidosis with hyponatraemia (Na 127 mmol/l, K 6.9 mmol/l, HCO3 16 mmol/l), which were attributed to obstructive uropathy. Because of prolonged secondary bladder dysfunction he required urinary catheterisation for 1 week. There was significant post obstructive diuresis and parenteral fluid therapy was given for 7 days. Whilst urinary retention is a well recognized complication of circumcision, this is the first report of significant obstructive uropathy and renal impairment due to surgical excision of the foreskin.

Serious neurological complications of measles--a continuing preventable problem.

Eight children who presented to two Sydney children's hospitals in 1984 with the neurological complications of measles infection are described. Six of these children have either died or have serious residual neurological abnormalities. Experience in the United States indicates that such complications of measles can be virtually eliminated by a programme of compulsory immunization of pre-school children.

Probably congenital histiocytosis X with unusual radiographic findings in a 7-week-old infant.

A 7-week-old infant who probably had congenital histiocytosis X of the Letterer-Siwe type, and who showed mesomelic involvement of the long bones, is reported. Although skeletal changes are common in histiocytosis of the Letterer-Siwe type, very early appearance and localisation of these changes is unusual.