Usefulness of parental serum total cholesterol levels in identifying children with hypercholesterolemia.

It was hypothesized that healthy children with high cholesterol levels may have parents who exceed acceptable cholesterol levels established by the National Cholesterol Education Program. One hundred sixty families (320 parents, 263 children aged 3 to 10 years) were evaluated for total cholesterol and other risk factors. Before the study, almost half of the parents had not had serum total cholesterol measured. The odds ratio for a child having a total cholesterol greater than or equal to 5.17 mmol/liter (200 mg/dl) was 13.6:1 (confidence interval 5.7 to 32.5) for a child with at least 1 parent having cholesterol greater than or equal to 6.20 mmol/liter (240 mg/dl) versus a child whose parents had low total cholesterol. Testing only children who had at least 1 parent with a total cholesterol greater than or equal to 5.17 mmol/liter (200 mg/dl) had a sensitivity of 98% for detecting children's total cholesterol greater than or equal to 5.17 mmol/liter. It is concluded that parental total cholesterol is useful in identifying children with high total cholesterol levels. Pediatricians may identify a large number of parents with hypercholesterolemia not previously recognized.

Hyperthyroidism in identical adolescent male twins.

Monozygous adolescent male twins with hyperthyroidism are presented. One twin had associated thyroiditis. The other twin presented with muscle weakness and paralysis. Treatment was successful with antithyroid medication and levothyroxine.

Sudden death in a neonate as a result of herpes simplex infection.

This paper describes a case of a neonate with disseminated herpes simplex born to a 14-year-old asymptomatic mother. The infant's physical examination was normal at birth, and subsequent abnormalities were so subtle that infection was not recognized during life. Postmortem cultures of liver and spleen grew herpes simplex virus, and immunofluorescent direct antibody typing revealed Type 2. A cervical culture of the mother obtained after the infant's death was negative.

Outcome after prenatal detection of a sporadic, unstable translocation t(5;21).

Amniotic fluid cultures from a 37 year old woman showed a sporadic 46,XX,t(5;21)(5qter----5p13 or p14::5pter----5p13 or p14::21p12----21qter) complement. In the majority of metaphases the 5p fragment was attached to the stalks of chromosome 21; however, in 9% of metaphases, the fragment was loosely attached by a 'thread' and in 6% it was completely detached. Silver staining and in situ hybridisation with a homologous ribosomal gene probe, which localises to stalk regions (nucleolar organisers, NOR) of human acrocentric chromosomes, failed to show a reciprocal exchange. Prognosis was uncertain because the possibility that the 5p fragment might have been lost in some cell lines could not be excluded. Nonetheless, the parents elected to continue the pregnancy. The translocation was confirmed in blood specimens obtained both at birth and at 1 year of age and showed similar instability. However, the proband shows no anomalies and is developing normally at 1 year.

Home parenteral nutrition in a child with Menetrier disease.

A 4-year-old boy is described with abdominal pain, emesis, weight loss, hypoproteinemia and edema. The diagnosis of Menetrier disease was made based on radiographic studies, gastroscopy and gastric biopsy. There was little response to medical treatment and enteral feedings were poorly tolerated for many weeks. Although Menetrier disease in children has a benign and transient course, we found the use of home hyperalimentation significantly shortened the length of hospitalization and provided adequate nutritional support until the gastric lesions began to resolve.

Malignant external otitis in a diabetic adolescent.

Malignant external otitis (MEO) is an unusual medical problem. The case reported is that of a diabetic adolescent who presented with severe ear pain unresponsive to oral antibiotics and analgesics. The diagnosis of MEO was made, and he was successfully treated with a combination of intravenous anti-Pseudomonas agents. A review of the pediatric cases, guidelines for diagnosis, length of treatment, and prognosis are presented.

The localization of urinary tract infection with 99mTc glucoheptonate scintigraphy.

A retrospective study was performed of 39 children at the Children's Memorial Hospital, Chicago, Illinois, who underwent technetium-99m glucoheptonate (99mTcGH) scintigraphy for evaluation of possible urinary tract infection. Clinical and laboratory criteria classified the children as having pyelonephritis, cystitis, or no urinary tract infection. Of 28 children classified as having pyelonephritis, 24 (86%) children had abnormalities on 99mTcGH scintigraphy. Only 8 of 19 (42%) renal ultrasound scans and 4 of 17 (24%) intravenous pyelography studies performed in these children demonstrated findings consistent with parenchymal disease. Only 9 of 19 (47%) cystograms demonstrated vesicoureteral reflux. Three children who underwent gallium-67 citrate scintigraphy had localization at the sites of focal defects with 99mTcGH scintigraphy. 99mTcGH scintigraphy is a sensitive and specific indicator of renal parenchymal involvement that helps localize urinary tract infection to the kidney.

Mauriac's syndrome revisited.

A 22 year follow-up of a female with Mauriac syndrome is presented. Despite incomplete growth she had normal, though delayed, sexual development with two successful pregnancies. There is no clinical evidence of degenerative complications.

Evaluation of total protein excretion as a predictor of increased hemoglobin A1C levels in children with type 1 diabetes.

The purpose of this study was to investigate the use of the readily available and frequently used clinical test of total protein excretion as a correlative of hemoglobin A1C concentration and thus, as an indicator of strictness of control of type 1 diabetes. Subjects were 211 diabetic children being followed in a private practice. Twenty-four hour urine protein excretion and hemoglobin A1C were measured and data were compared using Pearson correlation procedures. The relationship between these two variables was not significant (p = .88). These findings indicate that total urinary protein does not correlate with hemoglobin A1C and is therefore not a useful clinical test to evaluate strictness of control in type 1 diabetes in children.

Diabetes mellitus and its effects on menarche.

In a combined mail and medical record survey of 121 non-diabetic and 90 diabetic girls greater than or equal to 9 years of age, the mean age of menarche in the control non-diabetic population was 13.0 +/- 1.2 years and 13.4 +/- 1.2 years in the diabetics. The diabetic group was divided into those whose onset was before or after age 11 years (DM less than 11, DM greater than or equal to 11). The DM greater than or equal to 11 group had a mean menarchal age of 14.0 +/- 1.2 years and the DM less than 11 group, 13.1 +/- 1.2 (p less than 0.005). The DM greater than or equal to 11 group also differed significantly from the control group. The difference between the two groups suggests that the onset of diabetes near the onset of puberty may have a more disruptive effect on hypothalamic-pituitary-gonadal axis maturation that does the prepubertal onset of diabetes.

Enhancement of a fra(16)(q22) with distamycin A: a family ascertained through an abnormal proposita.

A family in which a fragile site at 16q22 was segregating was ascertained through a newborn infant with multiple anomalies. The same fragile site was present in the phenotypically normal father and in a brother with cleft palate. The fra(16)(q22) was similar in appearance, and in response to culture conditions, to that reported by other investigators, including increased breakage in media supplemented with distamycin A. Sampling variation in the frequency of breakage over time may be considerable in some individuals. No pattern of anomalies was found to be associated with the fragile site. However, the reproductive history of the family we report (two livebirths with major congenital anomalies and one stillbirth) suggests caution in concluding fra(16)(q22) is not deleterious.

Parental perceptions of the psychological adjustment of children with diabetes and their siblings.

This study examined the psychological adjustment of children with diabetes and their siblings. Data were collected for 41 diabetic children and their siblings between ages 6 and 11 yr who were followed in a large pediatric practice. The diabetic group was matched with 35 control children who were followed for routine pediatric care and their siblings. Diabetic families and the controls did not differ on divorce rate or level of marital adjustment. Behavior problems were measured through the use of the Achenbach Behavior Checklist for both sexes separately at the 6-11- and 12-16-yr-old age levels. Diabetic boys, aged 6-11 yr, were higher than nondiabetic boys on internalizing and externalizing symptom scales, particularly on measures of schizoid tendencies, obsessive compulsive symptoms, hyperactivity, and aggression. Neither female patients, male siblings, nor female siblings in the 6-11-yr-old age group differed from controls on emotional adjustment. Among the 12-16-yr-old males, diabetic patients were higher on internalizing symptoms than male siblings and their controls. Male siblings tended to be lower than diabetic patients and controls on school performance. Social class differences may have contributed to the differences at the 12-16-yr age levels. Female subjects in the 12-16-yr-old group did not differ on measures of adjustment. Level of control was unrelated to patients' or siblings' adjustment, but behavioral symptoms tended to increase for male diabetic patients with length of illness, and tended to decrease for male siblings. Results are interpreted according to social class effects and sex differences.

Studies of retinopathy and the plasma co-factor of platelet hyperaggregation in type 1 (insulin-dependent) diabetic children.

Only one out of 73 children with young-onset Type 1 (insulin-dependent) diabetes for less than 10 years had retinopathy detectable with fluorescein retinal angiography. Although these fluorescent studies were normal, retinal abnormalities were detected in 19 out of 53 patients by electro-retinography and in four out of 28 patients by the 100-hue colour test. We were unable to confirm recent reports indicating that most Type 1 diabetic patients have retinopathy detectable by fluorescein angiography. The diabetic plasma co-factor induces normal platelets to hyperaggregate in vitro. Plasma co-factor activities in adult diabetic patients have previously been shown to correlate with the degree of hyperaggregation, although in general, only those patients with severe retinopathy or nephropathy have high plasma activities. The plasma activities of 192 Type 1 diabetic patients were significantly higher than those of normal subjects (p less than 0.01). Of ten children with markedly elevated activities, nine did not have retinopathy.

Noonan syndrome. A report of male-to-male transmission.

A report of three generations of Noonan syndrome, affecting one female and two males, is described. This is the ninth family in which male-to-male transmission has been reported, suggesting an autosomal dominant trait.