Central nervous system abnormalities and psychomotor retardation in a girl with a 15.4-MB deletion of 14q12→q21.2 and a 550-KB deletion of 18p11.23: microarray delineation of an unbalanced chromosome rearrangement and a literature review.

This paper describes the presence of a 15.4 Mb deletion of 14q12→q21.2 and a 550-KB deletion of 18p11.23 in a patient with an apparently balanced translocation between chromosomes 14 and 18 [t( 14; 18) (ql2; pi 11)]. The patient had developmental delay, truncal hypotonia, hyperreflexia and spasticity of the lower extremities, prominent forehead, fullness of the periorbital region, hypertelorism, upslanted palpebral fissures, systagmus, a depressed nasal bridge, down-turned conrners of the mouth, a prominent philtrum, thin upper lip, pointed chin, and deep palmar creases. Cranial MRI revealed agenesis of the corpus callosum, diffuse cerebral atrophy, and enlargement of the third and lateral ventricles. Here, we review and compare published cases with proximal 14q deletions to establish a genotype-phenotype correlation according to the deleted regions involving the 14q12, 14q13, 14q21, and 14q22q23. We also examined the literature to find cases with deleted regions overlapping the deletion in our patient to establish a clinical spectrum in proximal 14q deletions.

Relationship between oxidative stress and chronic daily headache in children.

The aim of this study was to investigate the relationship between oxidative stress and chronic daily headache (CDH) in children. Although there are reports that oxidative injury may play a role in the pathophysiology of some neurologic disorders, such as migraine and epilepsy, by disrupting or destroying cell membranes through the formation of free radical and reactive oxygen species, the pathophysiology of headache is not clearly established. A total of 38 children (16 boys and 22 girls) with CDH, aged between 7 and 15 years, were enrolled in the study. The control group consisted of 39 healthy children (17 boys and 22 girls), aged between 7 and 14 years. The mean age was 10.9 ± 2.2 years for both the groups. Activities of erythrocyte superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GPx) as well as malondialdehyde (MDA) levels in all the children of both the groups were measured. Mean activities of erythrocyte SOD, CAT, and GPx as well as MDA levels were significantly higher in the study group than in the control group (p < 0.001). The findings of this study suggest that oxidative stress may play a causal or consequential role in children with CDH.

May long term oxcarbazepine treatment be lead to secondary hyperparathyroidism?

BACKGROUND AND PURPOSE: The adverse effects of newer antiepileptic drugs are not well-known. This study assessed the impact of oxcarbazepine (OXC) treatment on bone turnover. METHODS: Forty-four children with idiopathic focal (and/or secondarily generalized) epilepsy who had been treated with OXC for more than 1 year were compared with 33 healthy, age- and sex-matched children. Serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone, osteocalcin, calcitonin, and 25-hydroxyvitamin D, and bone mineral density were measured to evaluate and compare bone mineralization between the two groups. RESULTS: The serum levels of calcium, osteocalcin, 25-hydroxyvitamin D, and bone mineral density did not differ significantly between the study and control groups. However, serum levels of parathyroid hormone, alkaline phosphatase, phosphorus, and calcitonin differed significantly between the two groups. CONCLUSIONS: These findings suggest that OXC treatment leads to secondary hyperparathyroidism with high-turnover bone disease and/or impaired intestinal calcium absorption.

Nutritional effects on auditory brainstem maturation in healthy term infants.

OBJECTIVE: To assess the effects of dietary long chain polyunsaturated fatty acid (LCPUFA) supplementation on auditory brainstem maturation of healthy term newborns during the first 16 weeks of life by measuring brainstem auditory evoked potentials (BAEPs). DESIGN: Throughout the 16 week study period, infants in the formula A group (n = 28) were assigned to be fed exclusively with the same formula supplemented with DHA, and infants in the formula B group (n = 26) were assigned to receive only a DHA unsupplemented but otherwise similar formula. During the study period, the first 26 consecutive infants to be fed exclusively on their mother's milk for at least the first 16 weeks of life were chosen as the control group. BAEP measurements were performed twice: at the first and 16th week of age. RESULTS: There were no significant differences among the study and control groups in the BAEP measurements performed at the study entry. At 16 weeks of age, all absolute wave and interpeak latencies in the study and control groups had significantly decreased. The decreases were significantly greater in the formula A and control groups than in the formula B group. CONCLUSIONS: Infants fed on human milk or a formula supplemented with LCPUFAs during the first 16 weeks of life show more rapid BAEP maturation than infants fed on a standard formula. Although the clinical importance and long term effects of these findings remain to be determined, routine supplementation of formulas with LCPUFAs should be considered.

Adams-Oliver syndrome: further evidence for autosomal recessive inheritance.

We report a 7-year-old girl with Adams-Oliver syndrome who presented with extremely rare central nervous system anomalies including microcephaly, epilepsy, mental retardation and intracranial calcifications in addition to the classical scalp and limb defects.

Brainstem auditory-evoked potentials in iron-deficiency anemia.

Slight-to-moderate impairments may be observed in mental and motor developments of infants with iron- deficiency anemia. Brainstem auditory-evoked potentials provide a noninvasive means of examining the auditory aspect of the central nervous system functions. In this study the effect of iron-deficiency anemia on auditory functions was investigated by using brainstem auditory-evoked potentials. Brainstem auditory-evoked potentials of the 20 iron-deficient infants were not significantly different from those of the control group that included 20 healthy age-matched infants. Furthermore, there was not a statistically significant difference between the brainstem auditory-evoked potentials of the study group performed before and 3 months after oral iron therapy. Although we could not demonstrate a hearing loss in infants with moderate iron-deficiency anemia in this study, the relationship between severe iron-deficiency anemia and hearing loss or auditory dysfunction remains to be determined.

Double versus single phototherapy in term newborns with significant hyperbilirubinemia.

The efficacy of double phototherapy, in the form of conventional phototherapy with special blue light plus fiberoptic phototherapy, was compared with conventional phototherapy consisting of special blue lamps alone in a relatively larger series of term newborns with significant hyperbilirubinemia. During the study period the sum of the average spectral irradiances in the double phototherapy group was significantly higher than that of the single phototherapy group (p < 0.05). Phototherapy was effective in decreasing bilirubin levels in both groups, but the response was greater in the double phototherapy group; the duration of exposure to phototherapy was significantly shorter (31.2 +/- 8.5 vs. 38.98 +/- 14.7 h, p < 0.05), and the overall bilirubin decline rate as mumol/l/h and per cent/h was significantly greater in the double phototherapy group (4.1 +/- 1.37 vs. 3.3 +/- 0.86 mumol/l/h, and 1.29 +/- 0.38 vs. 1.02 +/- 0.44 per cent/h, p < 0.05). In phototherapy treatment of term newborns with significant hyperbilirubinemia, double phototherapy provided more rapid and effective bilirubin reduction than conventional phototherapy alone due to higher spectral irradiance and larger body surface area exposed to phototherapy. The value of double phototherapy in the treatment of newborns with hemolytic hyperbilirubinemia remains to be determined.

Comparison of the efficacy of conventional special blue light phototherapy and fiberoptic phototherapy in the management of neonatal hyperbilirubinaemia.

The efficacy and usefulness of two types of phototherapy differing in the source, wavelength and irradiance of the light, conventional phototherapy consisting of special blue light and fiberoptic phototherapy, were compared in a relatively larger series of term newborns with non-haemolytic and more significant hyperbilirubinaemia than those in previous studies. In total, 108 newborns were allocated sequentially to receive either conventional phototherapy consisting of five special blue lamps or fiberoptic phototherapy. The average spectral irradiance measured at the skin surface level of newborns during the study period was significantly greater in the conventional phototherapy group. The special blue lamp of the conventional phototherapy unit had an emission spectrum almost identical to the bilirubin absorption spectrum, whereas the tungsten-halogen lamp of the fiberoptic phototherapy had a broad emission through the blue and green wavelengths (mainly in the green spectrum). Phototherapy was more effective in the conventional phototherapy group; the duration of exposure to phototherapy (h) was significantly shorter, and the overall bilirubin decline rate (as micromol/l/h and %/h) was significantly greater in the conventional phototherapy group. According to the nursing personnel, fiberoptic phototherapy was more comfortable than the conventional phototherapy frame because of the easier accessibility and handling of the infants during phototherapy. They complained of giddiness, nausea, glare, temporary blurring of vision and difficulty in detecting the skin colour changes of newborns with the blue light of the conventional phototherapy unit. Conventional phototherapy consisting of special blue fluorescent lamps with approximately twofold higher irradiance and an emission spectrum almost identical to the bilirubin absorption spectrum is preferable to fiberoptic phototherapy in the standard treatment of term newborns with non-haemolytic hyperbilirubinaemia.

Auditory brainstem responses in children with congenital heart disease.

BACKGROUND: Cyanotic congenital heart diseases usually lead to growth and developmental delay in children due to chronic hypoxemia and undernourishment that may affect the central nervous system. The auditory brainstem responses are determined to assess the maturation and function of the brainstem. Therefore, we used the auditory brainstem responses to investigate the effect of cyanotic congenital heart diseases on brainstem maturation. METHODS: The auditory brainstem responses were investigated in 45 children (23 cyanotic, 22 acyanotic) with congenital heart diseases and compared with the results of 30 healthy counterparts (all children were aged between 2 months and 15 years). RESULTS: The results of auditory brainstem responses were similar in acyanotic patients and in normal children. The cyanotic patients under 1 year of age had more prolonged I-V interpeak latencies than those of control and acyanotic patients (P < 0.05). There was no difference between all groups older than 1 year of age. In cyanotic children, I-V interpeak latencies showed significant negative correlation with arterial oxygen saturation and partial oxygen pressure (P < 0.05). CONCLUSIONS: Cyanotic congenital heart diseases may cause significant retardation on brainstem maturation due to chronic hypoxemia, especially in infants under 1 year of age, whereas acyanotic congenital heart diseases have no effect on auditory brainstem responses.

Measurement of bone mineral density by dual energy X-ray absorptiometry in preterm infants fed human milk or formula.

UNLABELLED: Bone mineralization of healthy preterm infants fed human milk were compared with that of similar fed preterm formula. Bone mineralization was studied by dual energy X-ray absorptiometry in 43 preterm infants divided into two groups; 21 preterm infants were fed with maternal breast milk and 22 preterm infants with a preterm formula containing 70 mg calcium and 35 mg phosphorus per decilitre. CONCLUSION: Preterm infants fed breast milk had lower bone mineral density than the preterm formula-fed group. Fortifying preterm human milk with calcium and phosphorus will improve bone mineralization in preterm infants.