Persistent pseudohypoaldosteronism in a 7-year-old boy.

Pseudohypoaldosteronism has been described as a syndrome presenting early in life with profound salt wastage, failure to thrive, and lethargy. The mechanism of sodium loss is renal, not related to aldosterone production. Previous cases have been transient, responding to supplemental salt therapy which was discontinued after one to two years. A child whose pseudohypoaldosteronism was first diagnosed in infancy and whose salt loss persisted to 7 years of age is described.

De novo partial 2p duplication with postmortem description.

An unbalanced karyotype most likely consisting of a partial duplication of the short arm of chromosome 2 (p13 leads to pter) was found in a newborn infant with intrauterine growth retardation, facial, skeletal, and cardiac abnormalities. There was no evidence of a translocation in either parent. At autopsy, striking histopathologic abnormalities were detected in the central nervous system and ovaries.

Anemia in children and adolescents with hypothyroidism.

In a review of 17 adolescents and children (excluding newborns) with definite clinical signs, symptoms, and laboratory findings of hypothyroidism, 11 patients (65%) had anemia. The mean corpuscular volume (MCV) of the red blood cells was either macrocytic or normocytic. The hemoglobin did not correlate with the serum thyroxine level. Anemia occurred only in those patients with heights below the third percentile, but there was no similar correlation with weights. Of the 10 patients who had radiographs for bone age, all showed severe delay (47 to 103 months) and had heights below the third percentile. Nine of these patients were anemic, but the severity of the anemia did not correlate with the delay in bone age. Neither microcytic anemia nor pernicious anemia, noted in many adult hypothyroid patients, was found in the children and adolescents with hypothyroidism studied here. The "uncomplicated" anemia secondary to hypothyroidism responded to thyroid replacement therapy alone. Anemia can be the most prominent feature of hypothyroidism. In patients with mild to moderate anemia of unknown origin, especially those with fall-off in linear growth and increased MCV, hypothyroidism should be considered in the differential diagnosis of the anemia.

Cardinal Glennon Memorial Hospital for Children, St. Louis -- genetic unit offers diagnosis, counseling.

A prenatal history, complete family pedigree, physical examination, and laboratory studies help to determine whether patients' traits and diseases are hereditary or environmental. The geneticist offers genetic counseling to inform couples of the risks entailed in their bearing a child.

Low-dose intravenous insulin therapy for diabetic ketoacidosis in children.

Fourteen pediatric patients were successfully treated for diabetic ketoacidosis with continuous low-dose intravenous insulin. The average admission blood glucose concentration was 717 mg/100 ml and the mean admission capillary blood pH was 7.13. The insulin dosage was 0.25 units/kg every four hours. The average total insulin dose for recovery was 0.6 units/kg. No complication was observed. The method is effective, safe, and simple to administer.

Transient neonatal hypocalcemia, hypomagnesemia, and high serum parathyroid hormone with maternal hyperparathyroidism.

Findings in a case of neonatal tetany in a child whose mother had elevated blood parathyroid hormone levels because of a parathyroid adenoma are given. The child was found to have hypocalcemia, hypomagnesemia, and hyperphosphatemia. Parathyroid hormone in the infant was found to be elevated. It has been postulated that the pathophysiologic mechanism of the hypocalcemia in this syndrome is transient hypoparathyroidism. The present case suggests a different mechanism: hypomagnesemia and end-organ refractoriness to parathyroid hormone, a state analogous to pseudohypoparathyroidism.

Position paper on fatal abusive head injuries in infants and young children.

This article represents the work of the National Association of Medical Examiners Ad Hoc Committee on shaken baby syndrome. Abusive head injuries include injuries caused by shaking as well as impact to the head, either by directly striking the head or by causing the head to strike another object or surface. Because of anatomic and developmental differences in the brain and skull of the young child, the mechanisms and types of injuries that affect the head differ from those that affect the older child or adult. The mechanism of injury produced by inflicted head injuries in these children is most often rotational movement of the brain within the cranial cavity. Rotational movement of the brain damages the nervous system by creating shearing forces, which cause diffuse axonal injury with disruption of axons and tearing of bridging veins, which causes subdural and subarachnoid hemorrhages, and is very commonly associated with retinal schisis and hemorrhages. Recognition of this mechanism of injury may be helpful in severe acute rotational brain injuries because it facilitates understanding of such clinical features as the decrease in the level of consciousness and respiratory distress seen in these injured children. The pathologic findings of subdural hemorrhage, subarachnoid hemorrhage, and retinal hemorrhages are offered as "markers" to assist in the recognition of the presence of shearing brain injury in young children.