Metabolic biomarkers of small and large for gestational age newborns.

BACKGROUND: Small for gestational age (SGA) and large for gestational age (LGA) newborns are at increased risk for developmental, metabolic and cardiovascular morbidities. AIMS: To compare the metabolic biomarkers of SGA and LGA infants with those of appropriate for gestational age (AGA) newborns in order to shed more light on a possible pathogenesis of those morbidities. STUDY DESIGN: An observational retrospective study. SUBJECTS: 70,809 term newborns divided into AGA, SGA, LGA, and severe subcategories (<3rd percentile or ≥97th percentile). OUTCOME MEASURES: 18 metabolites were measured by dried blood tandem mass spectrometry and compared in between groups in univariate and multivariate logistic regression. RESULTS: SGA newborns had a significant likelihood for elevated methionine, proline, free carnitine, and reduced valine levels compared to AGA newborns (P < .0001). Severe SGA showed more apparent trends including elevated leucine. LGA newborns had a significant likelihood for low citrulline, glutamine, proline, tyrosine, and elevated leucine levels (P ≤ .0033). Severe LGA newborns showed the same trends, with the exception of citrulline and glutamine. CONCLUSIONS: SGA and LGA newborns demonstrate distinct metabolic biomarkers in newborn screening. Most of the altered metabolites in the SGA group were elevated while those in the LGA group were decreased in comparison to AGA newborns. These trends were more apparent in the severe SGA subgroup while they mostly remained the same in the severe LGA subgroup. Whether these metabolic changes are involved with or can predict long-term outcome awaits further trials.

Thick Corpus Callosum in Children.

BACKGROUND AND PURPOSE: A thick corpus callosum (TCC) can be associated with a very grave outcome in fetuses, but its clinical presentation in older children seems to be markedly different. METHODS: The corpus callosum (CC) was defined as thick based on observations and impressions. We reviewed cases of children who were diagnosed as TCC based on brain magnetic resonance imaging (MRI) studies. The pertinent clinical data of these children were collected, and their CCs were measured. RESULTS: Out of 2,552 brain MRI images, those of 37 children were initially considered as showing a TCC. Those initial imaging were reviewed by an experienced neuroradiologist, who confirmed the diagnosis in 34 children (1.3%): 13 had neurofibromatosis-1 (NF-1), 9 had epilepsy, 3 had macrocephaly capillary malformation (MCM) syndrome, 3 had autistic spectrum disorder, 1 had a Chiari-1 malformation, and 1 had increased head circumference. No specific neurologic disorder could be defined in seven children. The measured thickness of the CC in these children was comparable to those published in the literature for adults. CONCLUSIONS: A TCC is a rare brain malformation that can be found in neuropathologies with apparently diverse pathognomonic mechanisms, such as NF-1 and MCM. It is not necessarily associated with life-threatening conditions, instead being a relatively benign finding, different in nature from that reported in fetuses.

Optic-pathway glioma: natural history demonstrated by a new empirical score.

The optic pathway glioma uniquely involves the optic pathway in a relatively constant pattern, allowing for recurrent measurements of its extent and comparison within patients with the same diagnosis. Its natural history, however, is unpredictable. We sought to formulate an empirical score to quantify optic-pathway involvement and disease course. The sample comprised 23 children with a diagnosis of optic-pathway glioma who attended a pediatric tertiary medical center from 1975-2004 and underwent at least two annual magnetic resonance imaging examinations over an average of 7 years. Each scan was evaluated for the larger diameters of intraorbital and retro-orbital parts of the optic nerve, chiasma, and optic tract. Findings were analyzed by time from diagnosis. In untreated children, tumors generally remained stable for about 3 years, and diminished thereafter. Children with neurofibromatosis-1 had a better course than children with sporadic disease. Young children fared similarly to older ones. Worse outcomes occurred in children who eventually required treatment; this group might have done better with earlier diagnosis, and requires careful follow-up. Our new empirical score can define the natural history of optic-pathway gliomas, and identify prognostic factors. It may help identify tumors in neurofibromatosis-1 children who potentially require treatment.

Neurological morbidity and the pertussis vaccine: an old story revisited.

We describe 3 children with neurological disorders that developed in association with their receipt of the whole-cell pertussis vaccine. Newer studies supported the ability of the wP vaccine to adversely affect the CNS. The possibility that it worsened their clinical course in infancy by causing additional damage should not be disregarded.