Familial granulomatous arthritis, iritis, and rash

Eleven family members over four generations have had granulomatous disease of the skin, eyes, and joints. Ten have had arthritis; two had skin, eye, and joint involvement; one had skin and joint disease, and one had iritis only. The disease is transmitted as an autosomal dominant trait and is not associated with HLA-B27. The disease resembles sarcoidosis in some ways but not in others, and is probably a new syndrome. The major long-term problems are iritis and joint contractures.     

Pseudohermaphroditis, with testes and a 46, XX karyotype.

A 14 4/12-year-old white girl, evaluated for progressive virilization and clitormegaly, was found to have the unusual combination of a 46, XX karyotype, well-developed Mullerian structures, and dysgenetic testes with Leydig cell hyperplasia. Although there have been previous case reports of 46, XX males, in all of these patients development of the Mullerian ducts had been suppressed. When contemporary classifications of human disorders of sexual differentation were reviewed, no report of a similar patient was found. We speculate that the genotype and phenotype in our patient correspond to the genetic intersexuality of the hornless goat, thereby raising the possibility that the human autosome may play a role in the control of sexual development.     

Diagnosis, treatment, and follow-up of neonatal mepivacaine intoxication secondary to paracervical and pudendal blocks during labor.

Seven infants developed mepivacaine intoxication secondary to accidental injection during paracervical or pudental blocks or both. All presented with unexplained neonatal depression at birth, tonic seizures (often with apnea) within six hours, and characteristic neurologic findings. Twenty-four-hour urinary excretion produced 12.7 to 37.4 mg, exchange transfusions less than 1.02 to 3.5 mg, and gastric drainage or lavage or both 0.63 to 1.26 mg of mepivacaine. Thus promotion of urinary excretion is the treatment of choice. All six survivors are seizure free and neurologically and developmentally normal at one to 4 1/2 years. With early diagnosis and prevention of severe perinatal hypoxia, the prognosis from intoxication alone is very good.     

Problems of early infancy, formula changes, and mothers' beliefs about their infants

Problems of early infancy are sometimes managed by changing an infant's formula from a cow milk formula to a soy protein or casein hydrolysate formula ("special formulas"). This study was designed to determine the frequency of formula changes, mothers' reports of problems that lead to such a change, and mothers' beliefs about the causes of these problems. Mothers of 189 breast-feeding (BF) and 184 formula-feeding (FF) infants were enrolled postpartum. Follow-up data were obtained by telephone interviews at 4 months. After starting a cow milk formula, 11% of the BF and 25% of the FF infants were given special formulas. Mothers frequently reported problems related to feeding, bowel movements, and crying behavior; 32% of infants with such problems were given special formulas. Excessive crying and colic were the most common problems leading to a formula change. When a formula was changed, mothers more frequently believed that the cause of the problem was intrinsic to the child (P less than 0.001) and that their infant had had a "disease or illness" (P less than 0.001). When formula changes occurred, 26% of mothers believed that their infants were allergic to cow milk. These beliefs may affect a mother's perceptions of her child's vulnerability.     

Mineral homeostasis in very premature infants: serial evaluation of serum 25-hydroxyvitamin D, serum minerals, and bone mineralization

This study was designed to evaluate the role of vitamin D sufficiency, as reflected in serum 25-hydroxyvitamin D (25-OHD) concentrations, on serum minerals and bone mineralization in very premature infants. Seventy-two infants (mean +/- SD gestation 30.1 +/- 2.5 weeks, mean +/- SD birth weight 1178 +/- 278 gm) were observed serially for the first 3 months of life. Mean serum calcium and phosphorus values, but not magnesium, remained low prior to 12 weeks. The percentage of infants with moderate to severe hypomineralization was 75% at 3 weeks, 55% at 6 weeks, 54% at 9 weeks, and 15% at twelve weeks. Low serum calcium and phosphorus values, high alkaline phosphatase activity, and moderate-severe hypomineralization were more frequent in infants weighing less than 1000 gm and in those with lower mineral intake. With a 400 IU vitamin D supplement, 45% of infants could maintain an initially normal serum 25-OHD concentration or increase low concentrations, whereas 55% had falling or persistently low (less than or equal to 15 ng/ml) 25-OHD concentrations. Birth weight and mineral intakes were comparable in these two groups, yet the group with the lower serum 25-OHD concentration had lower serum calcium and higher alkaline phosphatase values, and a higher percentage of moderate to severe hypomineralization. Regardless of birth weight, mineral intake, or 25-OHD concentration, increases in serum calcium and phosphorus values and in mineralization were seen at postconception term (12 weeks in most infants, nine weeks in those weighing 1250 to 1600 gm). At 12 weeks of age, but not before, serum 25-OHD concentration was directly correlated with serum calcium (r = 0.47, P less than 0.01) and serum phosphorus (r = 0.47, P less than 0.01) and inversely correlated with alkaline phosphatase values (r = -0.71, P less than 0.01). Mineral availability and 25-OHD sufficiency both appear to be important and to act synergistically, with neither totally compensating for the other.