Thyroxine and illness severity in very low-birth-weight infants.

The objective of this study was to determine the relationship between thyroxine (T4) and illness severity in a population of preterm infants. We investigated a cohort of infants with birth weights 1,500 g or less from a single level III neonatal intensive care unit who received a minimum of one cranial sonogram to screen for intraventricular hemorrhage (IVH) and one newborn screen for T4 during a 2-year period, (n = 284). The Score for Neonatal Acute Physiology (SNAP) was used to measure illness severity. T4 and SNAP were investigated in relationship to mortality, IVH, and severe IVH. T4 correlated inversely with SNAP (R = -0.46, p < 0.01). Infants with severe IVH and mortality had lower T4 and higher SNAP scores when compared to infants without these conditions. These differences persisted after controlling for the confounding effect of gestational age. Analysis of receiver operator curves indicated that high SNAP and low T4 were equivalently associated with IVH, severe IVH, and mortality. Our data indicate that T4 is associated with illness severity in very low-birth-weight infants. Low T4 levels and high SNAP scores are both associated with the outcomes of IVH and mortality in very low-birth-weight infants.

Thyroid function in very-low-birth-weight infants with intraventricular hemorrhage.

The objective of this investigation was to study the natural course of thyroid function in infants with intraventricular hemorrhage (IVH). A cohort of infants < 1,500 grams birth weight, n=247, were included in the analysis. Total T4 and thyrotropin from newborn screening during the 1st week of life (Test 1) and from repeat screening at 2-4 weeks postnatal age (Test 2) were compared in infants with IVH (n=43) and a group of infants without IVH. Fifty-nine percent of infants still had transient hypothyroxinemia at the time of Test 2. After multivariate analysis, infants with IVH had an increased odds of having a T4 < or = 6 microg/dL on Test 1 (OR 2.8, 95% CI 1.2-6.5), but at the time of Test 2 IVH was not associated with an increased odds of having a low T4. Only gestational age (OR 1.6, 95% CI 1.1-2.5) remained associated with an increased odds of having an extremely low T4 (< or = 4 microg/dL) at this time. Transient hypothyroxinemia remains common at 2-4 weeks of age in preterm infants. IVH is not independently associated with having a low T4 at this time.

Low serum thyroxine on initial newborn screening is associated with intraventricular hemorrhage and death in very low birth weight infants.

UNLABELLED: Transient hypothyroxinemia (TH) of prematurity has been correlated with poor neurodevelopmental outcome. However, the relationship between thyroid function and neonatal mortality and brain injury has not been described. OBJECTIVE: To investigate the relationship between thyroid function and neonatal outcome. METHODS: Review of infants weighing <1500 grams admitted to a single level III newborn intensive care unit (n = 342). Serum total T4 values of initial newborn screening of infants dying before hospital discharge were compared with those of surviving infants. Total T4 values from infants with and without intraventricular hemorrhage (IVH) and periventricular leukomalacia (PVL) also were compared. RESULTS: T4 values strongly correlated with gestational age (r = .56). Overall, 289 (85%) of 342 infants had TH. None of the infants had true congenital hypothyroidism. T4 values of infants with cystic PVL (n = 15) were not statistically different from those for infants who did not develop cystic PVL. Infants with IVH (n = 58) had a lower T4 value than did infants who did not develop IVH (5.4 +/- 3.4 microg/dL vs 7.8 +/- 3.6 microg/dL). Infants who died before hospital discharge (n = 24) had a lower T4 value than did infants discharged to home (3.4 +/- 2.2 vs 7.9 +/- 3.7 microg/dL). After controlling for potential confounding variables, T4 value remained associated with an increased odds of IVH (odds ratio: 1.2; 95% confidence interval: 1.05 to 1.4) and mortality (odds ratio: 2.3; 95% confidence interval 1.6 to 3.4). CONCLUSIONS: In our population of very low birth weight infants, TH has an incidence of 85%. Very low T4 values on initial newborn screening are associated with increased odds of death and IVH. Additional investigation is needed to determine whether low serum thyroxine level contributes to IVH and neonatal death or whether it is simply an associated factor.

Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?

We report on 2 unrelated patients with microcephaly, lymphedema, and chorioretinal changes. They are compared with previously reported patients with microcephaly and lymphedema and microcephaly with chorioretinal changes. The question is raised whether all of these patients represent one entity or are separate syndromes. Until more data are available we propose that our patients represent a single entity.

Segmental spinal dysgenesis.

Segmental spinal dysgenesis is characterized by focal agenesis or dysgenesis of the lumbar or thoracolumbar spine, with focal abnormality of the underlying spinal cord and nerve roots. Children are symptomatic at birth with lower limb deformities and neurological deficits that may be segmental. Myelography and computed tomography disclose hypoplastic or absent vertebrae and atrophic or absent neural elements adjacent to the bony deformity; the spinal column distal to the abnormality may be partially bifid, but is otherwise normal. Spinal ultrasonography was a helpful diagnostic adjunct in one patient. Surgery may be helpful in decompressing partially functioning spinal cord or nerve roots, but may exaggerate the tendency toward spinal instability. The embryology of this abnormality is not clear, but two children had other anomalies suggesting a spinal dysraphic syndrome, and its cause is probably related to a segmental maldevelopment of the neural tube.

Dermoid tumors occurring at the site of previous myelomeningocele repair.

Four children with previously repaired myelomeningoceles presented toward the end of the first decade or early in the second decade of life with deteriorating lower-extremity and bladder function. Myelography and computerized tomography scanning demonstrated irregular filling defects at the area of the myelomeningocele repair, and surgical exploration disclosed dermoid tumors that were adherent to the placode and adjacent roots. Dermoid tumors should be considered in the differential diagnosis of neurological deterioration in children with a repaired myelomeningocele.

Congenital hand anomaly: etiology and associated malformations.

Congenital malformations of the hand may be present as part of syndromes. The recognition of these syndromes directly influences the surgical care of the hand anomaly. The natural history of the disorder may be predicted. The associated malformations may affect surgical timings and the indications for surgical correction. Various schema are presented here for evaluating the common abnormalities of the hand--radial club hand, ulnar defects, syndactyly, and polydactyly.

Seizures in children with meningomyelocele.

The charts of 111 children with meningomyelocele were reviewed. Ninety-eight had shunted hydrocephalus. Twenty-five of 111 children (24 of 98 children with shunts) had seizures. Age at onset and type of seizure varied. Brain malformation (other than Arnold-Chiari), shunt infection, and perhaps number of shunt revisions were important risk factors in seizure development. The children with seizures were more likely to be developmentally delayed.

Severe cardiac and ophthalmologic malformations in an infant exposed to diphenylhydantoin in utero.

A newborn male infant with multiple congenital malformations including lethal cardiac malformations and severe ophthalmic malformations is described. The infant was exposed in utero to hydantoin. There is no other identifiable cause for the malformations apparent in the infant's or his family's history.

Mucolipidosis I (acid neuraminidase deficiency). Three cases and delineation of the variability of the phenotype.

Isolated deficiency of the lysosomal hydrolase acid neuraminidase results in multisystem storage of sialic acid-rich oligosaccharides. Wide phenotypic diversity occurs within this biochemical defect. We studied three cases of an infantile form of mucolipidosis I in which the phenotype is dominated by severe Hurloid features. These patients excreted excessive amounts of sialic acid-rich oligosaccharides in their urine, and storage of similar compounds was shown in tissues and cultured fibroblasts. Cultured fibroblasts demonstrated an isolated deficiency of acid neuraminidase; beta-galactosidase levels were normal.

The prevalence of congenital heart disease among the population of a metropolitan cleft lip and palate clinic.

The entire infant population of the Tufts-New England Medical Center Cleft Palate Clinic was reviewed, and the prevalence rates of congenital cardiac anomalies were calculated. The overall prevalence rate of congenital heart disease among the facial cleft clinic population was 6.7%, with a prevalence rate of 9.1% among patients with submucous cleft palate, 7.7% with congenital palato-pharyngeal incompetence, 0% with cleft lip only, 5.3% with unilateral cleft lip and palate, 12.5% with bilateral cleft lip and palate, 4.3% with cleft palate only, 13.6% with Pierre-Robin anomaly, 7.1% with cleft lip and palate and a syndrome diagnosis, 16.7% with cleft palate and a syndrome diagnosis.

Blue rubber bleb nevus syndrome.

Two cases of pediatric blue rubber bleb nevus syndrome are reported. The main features of the disease are rubbery blue cutaneous nevi and hemangiomatous, frequently hemorrhagic malformations of the bowel wall. Polypoid filling defects were seen throughout the bowel on barium studies. This entity should be considered in the differential diagnosis of polyposis, and the skin should be carefully examined for nevi when multiple bowel polyps are demonstrated, especially in patients with gastrointestinal bleeding.

Familial occurrence of gastroschisis. Four new cases and review of the literature.

In two unrelated families, there was familial occurrence of gastroschisis. In one family, a boy and girl were affected and there was a family history of stillbirth, abortion, prematurity, and esophageal obstruction. In the second family, two boys were affected and there was a family history of spontaneous abortion, inguinal hernia, and umbilical hernia. The recurrence of gastroschisis, generally considered a sporadic congenital effect, suggests that the condition may be genetic in nature. Furthermore, the pedigree of one of the families suggests that gastroschisis may be a severe expression of umbilical hernia or other abdominal wall defects. Autosomal dominant inheritance with variable expressivity or multifactorial inheritance may explain the occurrence of gastroschisis in the two families. Thus, a family history of abdominal wall defects may increase the risk for gastroschisis.