Neurofibromatosis presenting as a severe systemic vasculopathy

In a boy with neurofibromatosis type 1 (NF-1), hypertension, septic infection of an aneurysm in the deltoid muscle, bowel infarction, multiple arterial aneurysms and venous thrombosis occured within a period of 6 weeks. Histologically, vascular neurofibromatosis of the small vessels of the gut was found. This unusual occurrence of a multitude of clinical features within a few weeks was caused by vascular neurofibromatosis. Awareness of this condition in patients with NF-1 may help the paediatrician to avoid unnecessary diagnostic procedures and to initiate appropriate symptomatic therapy.     

Total body protein turnover and growth in children: Is it a futile cycle?

Rates of total body protein turnover during growth greatly exceed those necessary for net protein deposition. The excess protein synthesis would appear to be energy wasteful. However, a constant relationship is noted between whole body protein synthesis and basal energy needs, except during periods of rapid growth and development (newborn and adolescence). We suggest that whole body protein turnover is regulated by basal energy needs. The excess synthesis seen during periods of rapid growth is probably necessary to permit development and remodelling of tissues and organs to take place coincident with a mere increase in size.     

Chromosomally competent ovarian failure at adolescence

Three female adolescents are presented with delayed or incomplete secondary sexual development due to primary ovarian failure. All three patients had normal blood leukocyte and ovarian tissue karyotypes. The importance of performing a diagnostic laparoscopy with ovarian biopsy in the setting of chromosome competent ovarian failure (CCOF) is emphasized.