Primary lumbosacral Wilms tumor associated with diastematomyelia and occult spinal dysraphism. A report of a rare case and a short review of literature.

BACKGROUND: The occurrence of an extrarenal Wilms tumor in the lumbosacral region is an extremely uncommon condition. CASE REPORT: We report a case of Wilms tumor in the lumbosacral region that was associated with diastematomyelia and occult spina bifida. An 18-month-old girl presented with a swelling over the lower back with a tuft of hair on it, which she had had since birth. Imaging of the spine revealed spina bifida, bony diastematomyelia, and tethered cord. Excision of the bony spur and detethering of the cord was done. After a year, she had recurrence of swelling at the same site, weakness of both lower limbs, and incontinence of bladder and bowel. Excision of the mass and bony spur and detethering of the spinal cord were done. Histopathological examination showed features of a Wilms tumor.

The effect of GABA receptor ligands in experimental spina bifida occulta.

BACKGROUND: The pathophysiology behind spina bifida and other neural tube defects (NTDs) is unclear. Folic acid is one variable, but other factors remain. Studies suggest that substances active at the GABA receptor may produce NTDs. To test this hypothesis pregnant rats were exposed to either the GABA a agonist muscimol (1, 2 or 4 mg/kg), the GABA a antagonist bicuculline (.5, 1, or 2 mg/kg), the GABA b agonist baclofen (15, 30, 60 mg/kg), or the GABA b antagonist hydroxysaclofen (1, 3, or 5 mg/kg) during neural tube formation. Normal saline was used as a control and valproic acid (600 mg/kg) as a positive control. The embryos were analyzed for the presence of a spina bifida like NTD. RESULTS: After drug administration the pregnancies were allowed to proceed to the 21st day of gestation. Then embryos were removed and skeletons staining and cleared. Vertebral arch closure was measured. Results indicate that the GABAa receptor agonist muscimol, the GABAa receptor antagonist bicuculline, and the GABAb agonist baclofen produced NTDs characterized by widening of the vertebral arch. Oppositely the GABAb antagonist hydroxysaclofen produced narrowing of the vertebral arches. CONCLUSIONS: The findings indicate that GABA a or b ligands are capable of altering neural formation. GABA may play a greater than appreciated role in neural tube formation and may be important in NTDs. The narrowing of the vertebral arch produced by the GABA b antagonist hydroxysalcofen suggests that GABA b receptor may play an undefined role in neural tube closure that differs from the GABA a receptor.

Ambulation in the adolescent with spina bifida. II. Oxygen cost of mobility.

This study was designed to determine the energy cost (measured as oxygen use) of walking and wheelchair propulsion in children aged 10 to 15 with myelomeningocele of thoracic to sacral levels, and to determine whether energy cost of mobility could be estimated from clinical measures. Oxygen consumption (measured with open circuit spirometry) and heart rate were measured during treadmill walking by 21 children, wheelchair use by eight children, and, for five children, in both modes. Speeds ranged from 27 to 134 m/min, with slopes up to 15%. Energy consumption for walking was linearly related to speed, slope, heart rate, and body weight (r = .90, p less than .001); for wheelchair propulsion, energy consumption was a linear function of speed, slope, and body weight (r = .90, p less than .001). The same linear function applied for all disabled children; maximum walk/run speed over a 30 m distance correlated highly with both maximal oxygen consumption (r = .87) and speed using 70% of VO2max (r = .82). For both wheelchair use and walking, the relative energy consumption (percentage of VO2max) was highly correlated with heart rate alone (r = .93), and the absolute level of energy consumption was highly correlated with heart rate and maximum walk/run speed (r = .89). Simple clinical measures of maximum ambulatory velocity and heart rate allow accurate prediction (r = .89) of energy consumption in all children with myelomeningocele, regardless of neurologic and functional level.

In vivo H-1 spectroscopy in humans at 1.5 T.

Water-suppressed and section-selective proton (hydrogen-1) magnetic resonance (MR) spectra were recorded from human brain, leg muscle, liver, and heart with a 1.5-T imager. Signal from water was well suppressed, and resonances from several metabolites were consequently seen. The spectra from brains of healthy volunteers (n = 5) showed resonances from N-acetylaspartate, glutamine, aspartate, phosphocreatine/creatine, choline, taurine, and glycine. In five large brain meningiomas, resonances from N-acetyl-aspartate and phosphocreatine/creatine were either not visible or markedly decreased in intensity. The spectra from leg muscles of healthy volunteers showed resonances from protons in saturated fatty acyl chains, whereas resonances from unsaturated fatty acyl chains predominated in spectra from leg muscles of two patients with spina bifida. The spectra from livers of three healthy volunteers showed resonances from aliphatic and aromatic amino acids, choline, carnitine, and both saturated and unsaturated fatty acyl chains, and spectra from hearts of six healthy volunteers showed major resonances from phosphocreatine/creatine and taurine and smaller resonances from amino acids and fatty acyl chains.

Amniotic fluid folate, vitamin B12 and transcobalamins in neural tube defects.

Levels of folate, vitamin B12, the vitamin B12 binding proteins, apotranscobalamin I, II and III (TC I, II and III) and the unsaturated vitamin B12 binding capacity (UBBC) were measured in mid-trimester amniotic fluids from normal pregnancies, and from those where the fetus had open spina bifida, anencephaly or omphalocoele, and where the fetus was normal but the mother had had a previous neural tube defect pregnancy. At 15-19 weeks' gestation, vitamin B12 levels were low in the fluids of all the types of abnormal fetuses, and also of normal fetuses where there had been a previous NTD sib. In contradistinction, TC I, II and III and UBBC levels were generally abnormally high in all these groups. Low vitamin B12 levels in the face of high carrier protein levels suggest deranged vitamin B12 production or transport. Since these abnormalities are present in fluids from normal sibs of NTD individuals as well as from those with midline lesions, an inherited defect is implied. We propose that at least part of the genetic predisposition to NTD, and possibly other midline defects, could reside in an abnormality connected with vitamin B12 production, transport or metabolism, and a mechanism is suggested.

[Comparison of muscarinic cholinoceptor densities and affinities in the normal, obstructed and denervated human detrusor].

Muscarinic cholinoceptor densities and dissociation constants in normal, obstructed and denervated human detrusors were determined using 3H-quinuclidinyl benzilate (3H-QNB) as a radioligand in binding assays. Samples of detrusor were taken from 22 normal bladder domes (bladder tumor 10, primary VUR 5 and others 7), from normal bladder base in 10 bladder tumor cases, from obstructed bladders in 12 cases of benign prostatic hypertrophy and from denervated bladders in 6 spina bifida patients. The binding assay for muscarinic cholinoceptor was performed according to the procedures of Yamamura et al. and Nilvebrant et al. The tissue samples were homogenized in ice cold phosphate buffer (0.05 M, pH 7.4) by a Polytron homogenizer and the homogenates were used immediately for the receptor binding assay. Homogenates (100 microliters) in the presence or absence of 10 microM atropine sulfate and various concentrations (0.05-3 nM) of 3H-QNB, diluted with phosphate buffer to 2 ml were incubated for 90 minutes at 25 degrees C. The solutions were filtered through Whatman GF/F glass fiber filters. The filter was placed in a scintillation vial with 10 ml of scintillation fluid (ACS-II) for 24 hours. The radioactivity was determined by liquid scintillation spectrometry. The maximum binding (B max) and dissociation constant (KD) were derived by Scatchard analysis. B max is expressed as f mol/mg protein, and KD as M.(ABSTRACT TRUNCATED AT 250 WORDS)

Cellular zinc accumulation in anencephaly and spina bifida.

Cultured skin fibroblasts were established from three newborns with NTDs (2 with anencephaly, one with SB), a 12-year-old with SB and three controls. Cells were plated at confluent densities and incubated with 65ZnCl2 for 2, 6, and 24 hours, or at subconfluent densities for 1-7 days. Radioactivity and DNA were determined in whole cell sonicates. Zinc uptake by confluent NTD cells was similar to controls at 2 hours, but was lower at 24 hours (p less than 0.001). In subconfluent cultures in log-phase growth, NTD cells accumulated greater amounts of zinc per microgram DNA than a control at 2-4 days (p less than 0.001) but did not differ at 1 and 7 days. Decreased zinc uptake in static cultures, and increased zinc accumulation in growing cultures, suggest that one or more cellular defects of zinc bioavailability may contribute to the pathogenesis of NTDs in some patients.

A clinical approach to the use of predictive values in the prenatal diagnosis of neural tube defects.

The rationale of calculating predictive values to interpret the amniotic fluid alpha-fetoprotein (AFP) test has been examined and applied to amniotic fluid AFP testing from one Canadian center. Such predictive value ccalculations may be misleading if they fail to make use of the actual magnitude of the test result or the results of other investigations. The alculation of predictive values has thus been extended to take into account magnitude of the test results, the clinical history, and the results of other investigations. The interpretation of an abnormal amniotic fluid AFP test that is followed by a normal result of a careful ultrasound scan of the fetal back is that there is a 54.5% chance that the fetus has spina bifida if there is a previous history of spina bifida. There is a 12.5% chance if there is a negative family history. These calculations lead to informed genetic counseling and rational decision making with regard to the continuation of the pregnancy.

The energy expenditure of spina bifida children during walking and wheelchair ambulation.

Energy expenditure was measured during walking and wheelchair ambulation among a group of 22 spina bifida children. Walking energy expenditure was generally higher than during wheelchair ambulation and significantly higher again than that expected for normals matched for weight. The energy expended during both types of locomotion related to the weight of the subjects and not the site of lesion. Physical apathy, excessive weight and increased energy expenditure tended to be connected. Data are presented which will be of use in assessing the physical effort involved in the two types of locomotion, and in calculating dietary energy requirements.

Comparison of amino acid concentrations in amniotic fluid from fetal neural tube defective and normal pregnancies.

Amniotic fluid collected during the second trimester of pregnancy was analysed for amino acid and protein concentrations. The composition of amniotic fluid from pregnancies complicated by fetal anencephaly or spina bifida was investigated for variance from normal amniotic fluid. In spina bifida the hydroxy amino acids were raised whilst the branched chain amino acids were lower in concentration. In anencephaly the total amino acid and the protein concentrations were raised, and a wider range of concentrations for most of the amino acids was apparent.

The composition of amniotic fluid in pregnancies complicated by fetal anencephaly or spina bifida.

The concentration of amniotic fluid glucose, total protein, sodium, potassium, calcium, magnesium and phosphate as well as amniotic fluid osmolality were measured in normal second trimester pregnancies and in second trimester pregnancies complecated by fetal anencephaly or spina bifida. Amniotic fluid glucose concentration was low in anencephaly, while phosphate and total protein were high; calcium concentration and osmolality were slightly elevated with spina bifida. The application of these findings to antenatal diagnosis are discussed.