Hipopituitarismo congénito: experiencia en 23 casos / Congenital hypopituitarism: report of 23 cases

Background: Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency It is less common than growth hormone deficiency which has an incidence of 1:4.000 to 1:8.000 Uve newborns. Early diagnosis ofthis condition is important to prevent impairment of cognitive function, poor growth and alterations in metabolic profile in these patients. Aim: To report 23 patients diagnosed with congenital hypopituitarism. Material and methods: Retrospective review of clinical records of 23 patients (12 males) with congenital hypopituitarism, diagnosed during a 21 years period. In a group of 16 patients a molecular study was performed searching for mutations in HESX1, PROP-1 or POUF-1. Results: Short stature was the most frequent sign at the first evaluation, followed by neonatal hypoglycemia and presence of nistagmus, strabismus, atrophic optic nerve or malformations in the middle Une showed in CNS imaging, suggesting septo-optic-dysplasia. All male patients diagnosed during neonatal period, exhibited micropenis. CNS images showed isolated hypophyseal hypoplasia or associated to an ectopic neurohypophysis in most patients. No patient in the subgroup subjected to molecular analysis had any of the mutations in the searched genes. Conclusions: The diagnosis of hypopituitarism must be based on clinical grounds, speciaUy when hypoglycemia, prolonged jaundice, micropenis or midline alterations are found in the neonatal period.

Densitometría mineral ósea en pacientes pediátricos: interpretación de resultados e indicaciones / Indications and interpretation of results of pediatric bone densitometry

There is a growing interest in the evaluation of bone mass in children, to support the adequate management of several diseases in this age group. This interest was boosted by the improvement in bone mass measuring techniques and by the increase in the incidence of osteoporosis during childhood, due to the longer lifespan of children with congenital or acquired diseases. Other reason to measure bone mass is that an adequate bone accretion in children will prevent osteoporosis during adulthood. The extensive use of bone densitometry in children requires an adequate knowledge about its indications and interpretation. The morphology, size and constitution of the skeleton of child changes constantly, therefore densitometry results cannot be interpreted as those of a small adult. We review the advances in pediatric bone densitometry, specially its indications and the interpretation of results.

Diabetes mellitus neonatal transitoria por duplicación paterna 6q24 / Transient neonatal mellitus diabetes due to paternal duplication 6q24

Neonatal diabetes mellitus is defined as severe hyperglycemia beginning during the first six months of life, lasting at least one month and needing insulin as a treatment. The incidence is about 1 in 200.000 born alive. We report a preterm female newborn, small for gestational age, whose actual age is 19 months. At the third day of life she became severely ill, with serious shock, losing 20 percent of her weight at birth. Laboratory work-up showed a blood glucose level of 633 mg/dl, hypernatremia, metabolic acidosis and renal failure. During the initial 4 months she was treated with insulin infusions that were tapered and finally discontinued at four months of age. The molecular study of this patient showed abnormal maternal methylation at chromosome 6 and the novo paternal duplication of 6q24.

Guía de manejo en niños con diálisis peritoneal

La diálisis peritoneal, es un procedimiento que se utiliza en niños con lesión reanl grave, en algunas intoxicaciones y en alteraciones electrolíticas a metabólicas diversas. Realiza una depuración sanguínea intracorporal y extrarenal utilizando como membrana dializante el peritoneo, entre la sangre que circula por los capilares y una solución infundida a la cavidad peritoneal.