Lesch-Nyhan syndrome presenting with renal insufficiency in infancy and transient neonatal hypothyroidism.

A 20-day-old male infant presented with acute renal failure. Three weeks later he developed acutely swollen, hot, red joints and tophi in his hands and feet. The serum uric acid was 2.2 mmol/l (normal 0.13-0.23 mmol/l) and the urinary oxypurine/creatinine ratio was 2.26 mmol (normal < 1.5 mmol). Complete deficiency of hypoxanthine guanine phosphoribosyl transferase (HGPRT) in intact erythrocytes confirmed Lesch-Nyhan syndrome. Neurological development was delayed and self-mutilation was observed at 22 months. Acute renal failure secondary to crystal nephropathy and tophaceous gout are unusual presenting features of this rare condition. This child also had transient neonatal hypothyroidism, which is not a recognized manifestation of the syndrome.

Urinary infection in boys.A three-year prospective study.

73 boys who presented to their general practitioners over the course of one year with symptoms of urinary-tract infection and were found to have bacteriuria were referred to a three-year prospective study. This included clinical and radiological investigations and monitoring of the preputial flora and midstream-urine culture at monthyl intervals. 22 (30%) of the boys had radiological abnormalities of the urinary tract; 6 had pyelonephritic changes. Only 2 required urinary-tract surgery. Several findings of the study suggest that the natural history of the disease in boys is different from that in girls. Proteus spp.predominated as the infecting organisms. Culture of swabs from the preputial sac, and comparison with matched controls, suggested that the source of infection in boys is the prepuce or urethra rather than the bowel as in girls. Recurrence of infection, in the absence of radiological abnormality, was rare; 51 boys (70%) had no recurrence throughout the follow-up period. There was evidence that recurrence in boys is related to the persistence of gram-negative organisms in the urethra, revealed by low bacterial counts on midstream culture, and it is suggested that in boys urethral infection may be as important as bladder bacteriuria.

Urinary pathogens in the male.

Evidence is presented that the pathogens causing urinary infection in boys differ significantly from those causing infection in girls and in adult males. Studies of the prepuce floria in boys known to have had urinary infection and in matched controls suggest that the focus of infection is in the preputial sac or urethra rather than the bowel as in girls. It is suggested that the difference in infecting organisms in boys and in adult males may be related to prostatic secretion.

Prolonged survival and late presentation of vertically transmitted HIV infection in childhood.

PIP: This report discusses the clinical and immunological findings in a symptomless human immunodeficiency virus (HIV) carrier and her 2 sons 4 and 8 years after presumed vertical transmission. The 1st child presented in 1982 (at age 3 months) with failure to thrive and in 1986 was found to be HIV positive. The boy's half brother (now age 8) was born in Africa and was tested positive in 1986 also. The 24 year old mother was HIV antibody positive and symptom free. It seems probable that both boys were infected with HIV by vertical transmission as the children had no other risk factors other than vertical transmission at delivery. The mother could have been infected by her 1st husband or at the time of birth of her 1st son, at which time she received a blood transfusion. The fact that it took 8 years to identify a high risk but symptomless HIV carrier is worrying and antenatal screening must be considered.^ieng