Iron deficiency anemia in children with exstrophy of the cloaca.

The clinical records of twenty-five children with exstrophy of the cloaca (EC) were retrospectively reviewed to evaluate the prevalence and the clinical characteristics of iron deficiency anemia (IDA). Five of the 25 children with EC (20 %) exhibited IDA at some point. Their ages at the time of diagnosis were between 1.9 and 13.0 years. In the four cases where IDA was thought to be related to iron malabsorption secondary to short-bowel syndrome, its treatment required longer periods of iron supplementation to correct the anemia and to restore the total body iron stores. Physicians caring for children with EC should monitor for and treat IDA as part of a comprehensive management plan.

Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn.

Constitutional mosaic trisomy 8 has been associated with syndromic dysmorphology, corneal opacities, leukemias, and trophoblastic disease. However, abnormal maternal serum alpha-fetoprotein (MSAFP) has not been reported in association with mosaic trisomy 8. Our case first presented for evaluation of an extremely elevated MSAFP with mild elevation of MShCG in an otherwise normal pregnancy: MSAFP 13.89 MoM, MShCG 3.57 MoM, and MSuE3 1.04 MoM. Fetal dysmorphism was limited to bilateral pyelectasis and a prominent third ventricle. Spontaneous labor at 38 weeks resulted in the birth of a 3,570-gram AGA male with APGARs 7(1)/8(5). The neonate had facial asymmetry, 5th finger clinodactyly, 2-3 toe syndactyly, undescended testicle, abnormal prepuce, and mild pyelectasis. CT scan revealed hypoplasia of the corpus callosum, while echocardiography demonstrated bicuspid aortic valve, and the neonatal karyotype (blood) returned 46,XY/47,XY+8. Evaluation at 3 months revealed more prominent facial asymmetry, plagiocephaly, plantar creases, descent of the testis, and mild developmental delay. Review of the literature does not include any previously reported maternal serum alpha-fetoprotein aberrations in mosaic trisomy 8.

Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.

The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and growth retardation, characteristic facial anomalies, midline cleft palate, and genital and limb anomalies. Recently, biochemical evidence of an inborn error of cholesterol biosynthesis at the level of 7-dehydrocholesterol (7DHC) reductase was reported in children and adults with RSH/SLOS. We report on two sibs with a variant form of RSH/SLOS whose sterol metabolism in cultured lymphoblasts is abnormal but differs from that of patients with classical RSH/SLOS. The children have relatively mild physical and developmental abnormalities, but a phenotype still consistent with the diagnosis of RSH/SLOS. Their plasma cholesterol levels are only mildly depressed, and they have less markedly increased plasma levels of 7DHC than most patients with classical RSH/SLOS. Cultured lymphoblasts from our patients accumulated 7DHC to the same degree as classical RSH/SLOS lymphoblast when grown with cholesterol-depleted fetal calf serum. However, unlike other RSH/SLOS cells, the increase in cellular 7DHC levels was not suppressed when the cells were grown in the presence of cholesterol from untreated fetal calf serum. The parents' sterol metabolism was also strikingly abnormal in that the levels of 7DHC in their lymphoblasts were markedly elevated compared with those of lymphoblasts from other RSH/SLOS parents. Our findings suggest that these mildly affected RSH/SLOS sibs may have a genetic disorder of sterol metabolism that is related to but biochemically different from classical RSH/SLOS, possibly one affecting intracellular transport of sterols.

Psychosocial screening in pediatric practice: identifying high-risk children.

The purpose of this study was to evaluate the effectiveness of the Pediatric Symptom Checklist (PSC) as a psychosocial screening instrument. Using the PSC, the researchers screened 212 patients, ages 6-12 years, at a military outpatient pediatric clinic. Twenty-one children with scores in the "high-risk" range were randomly selected and matched with children scoring in the normal, "not-high-risk" range. Two trained interviewers, blind to individual PSC scores, independently interviewed and rated each subject's level of psychosocial functioning on the Children's Global Assessment Scale (CGAS). The Child Behavior Checklist (CBCL), a standardized psychosocial measure, was also completed by each subject's mother. PSC scores were compared to the CGAS and CBCL scores in terms of sensitivity and specificity. Additional analyses compared data from the study sample with that of previous studies. Results suggest that the PSC is a valid pediatric psychosocial screening instrument for multiethnic patient populations.

Self-esteem in children medically managed for attention deficit disorder.

Self-esteem was measured initially in a group of 21 eight- to 12-year-old children with newly diagnosed attention deficit disorder/hyperactivity and remeasured after 1-month courses of treatment with methylphenidate and placebo given in double-blind crossover fashion. Multimodal management of all patients included diagnosis, demystification, medication, close follow-up with supportive counseling, and referral as indicated for psychosocial and educational assistance. Long-term follow-up of 12 children who continued to receive methylphenidate was done for an average of 16 months. Initial total self-esteem was low in 30% of all subjects, intermediate in 55%, and high in 15%. No statistically significant changes occurred in self-esteem during the short-term phase of the study despite clinically significant behavioral responses to medication as assessed by serial questionnaires. At long-term follow-up, total, general, and academic self-esteem scores were improved significantly, however. These findings indicate that many preadolescents with attention deficit disorder/hyperactivity exhibit low self-esteem. Despite clinical response to medication, short-term improvement in self-esteem may not occur; however, long-term, multimodal management that includes medication does appear to improve self-esteem.