A case of early congenital syphilis.

A case of early congenital syphilis is reported in order to emphasize that syphilis is still present nowadays and that detection of syphilis in pregnant women is primordial for the prevention of this disease.

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion.

We report on newborn monozygotic twins with a Noonan-like phenotype, and multiple congenital anomalies due to a monocentric recombinant chromosome 18. The mother carried a paracentric inversion of the long arm of chromosome 18, inv(18)(q21.1q22.3). Cytogenetic, fluorescent in situ hybridization, comparative genomic hybridization and DNA marker analyses allowed the delineation of the deleted (18q22.3-qter) and duplicated (18q12.1-q21.1) chromosomal regions in the recombinant chromosome 18, and suggest that this duplication-deletion chromosome 18 resulted from breakage of a dicentric recombinant chromosome 18 with subsequent reconstitution of telomeric sequences on the long arm. Marked variability is observed in the phenotypic expression of the same chromosomal anomaly in these monozygotic twins. The clinical findings of these patients are compared with those reported in proximal 18q-duplication and distal 18q-deletion patients. The clinical features of both infants are compatible with Noonan syndrome, suggesting that a locus for this syndrome may be located on the long arm of chromosome 18.

The syndrome of bronchial atresia or stenosis with mucocele and focal hyperinflation of the lung.

We report a case of bronchial atresia with mucocele and focal hyperinflation of the lung in an asymptomatic 10-year-old girl. The diagnosis was made by chest radiograph and spiral CT.

[Imaging of AIDS in children]. / Imagerie du SIDA chez l'enfant.

In children, AIDS is mainly related to materno-foetal transmission. Due to antiviral therapy and prevention of infections, the initially very poor prognosis has improved and the length of survival has increased. There are two groups of children: the first (25%) in which the disease occurs early and is very severe, a second one in which the disease develops later after an asymptomatic period which can last several years. Manifestations of AIDS in children are mainly pulmonary and digestive infections, central nervous system infections are much rarer than in adults, neurologic disorders are mainly due to the HIV itself. Tumors are also rarer than in adults but may occur, including lymphomas and smooth muscle tumors.

A randomized trial for the treatment of mild iodine deficiency during pregnancy: maternal and neonatal effects.

One hundred and eighty euthyroid pregnant women were selected at the end of the first trimester of gestation on the basis of biochemical criteria of excessive thyroid stimulation, defined as supranormal serum thyroglobulin (TG > 20 micrograms/L) associated with a low normal free T4 index (< 1.23) and/or an increased T3/T4 ratio (> 25 x 10(-3)). Women were randomized in a double blind protocol into three groups and treated until term with a placebo, 100 micrograms potassium iodide (KI)/day, or 100 micrograms iodide plus 100 micrograms L-T4/day. Parameters of thyroid function, urinary iodine excretion, and thyroid volume were monitored sequentially. Neonatal thyroid parameters, including thyroid volume by echography, were also assessed in the newborns from mothers of the three groups. In women receiving a placebo, the indices of excessive thyroid stimulation worsened as gestation progressed, with low free T4 levels, markedly increased serum TG and T3/T4 ratio. Serum TSH doubled, on the average, and was supranormal in 20% of the cases at term. Urinary iodine excretion levels were low, around 30 micrograms/L at term. The thyroid volume increased, on the average, by 30%, and 16% of the women developed a goiter, confirming the goitrogenic stimulus associated with pregnancy. Moreover, the newborns of these mothers had significantly larger thyroid volumes at birth as well as elevated serum TG levels. In both groups of women receiving an active treatment, the alterations in thyroid function associated with pregnancy were markedly improved. The increase in serum TSH was almost suppressed, serum TG decreased significantly, and changes in thyroid volume were minimized (group receiving KI) or almost suppressed (group receiving KI combined with L-T4). Moreover, in the newborns of the mothers in the two groups receiving an active treatment, serum TG was significantly lower, and thyroid volume at birth was normal. The effects of therapy were clearly more rapid and more marked in the group receiving a combination of T4 and KI than in the women receiving KI alone. The differences could be partly attributed to the slightly higher amount of iodine received by women in the combined treatment. However, the main benefits of the combined treatment were almost certainly attributable to the hormonal effects of the addition of L-T4. Furthermore, the study demonstrated that the administration of T4 did not hamper the beneficial effect of iodine supplementation. In conclusion, the present work emphasizes the potential risk of goitrogenic stimulation in both mother and newborn in the presence of mild iodine deficiency.(ABSTRACT TRUNCATED AT 400 WORDS)

Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defects.

We present a female infant exhibiting congenital cutis laxa with retardation of growth and motor development, ligamentous laxity and congenital dislocation of the hips. This connective tissue disorder was associated with Dandy-Walker malformation, atrial and ventricular defect and minor bone abnormalities including multiple wormian bones, abnormal tubulation of long bones and absent twelfth pair of ribs. This association is believed to be unique.

Prediction of cerebral palsy in high-risk neonates: a technetium-99m-HMPAO SPECT study.

In infants who have experienced prenatal or perinatal injury, it is often difficult, on the basis of clinical examination and conventional investigations (electroencephalogram, cranial ultrasound scan), to diagnose those with brain damage and to predict the type and the severity of subsequent neurological handicaps. We investigated the predictive value of 99mTc-HMPAO brain SPECT performed in the first weeks of life in high-risk neonates. Right-left asymmetries in tracer uptake had no predictive value, regardless of their localization or severity. On the other hand, a change in antero-posterior rCBF distribution was found in 7/10 of neonates with adverse outcome (death, major neurological sequelae) and in none of the 78 neonates with no major motor neurological sequelae. Compared to conventional investigations, 99mTc-HMPAO brain SPECT did not provide additional predictive information when neurological examination, electroencephalogram and cranial ultrasonography were all normal or all abnormal. Conversely, in the 30 patients with anomalies on one or two of the above investigations, SPECT showed an abnormal antero-posterior pattern in 4/6 neonates with major neurological sequelae and no change in the antero-posterior rCBF distribution in the 24 infants who developed normally. In conclusion, our results suggest that 99mTc-HMPAO brain SPECT, when performed in the first weeks of life, can be useful in high-risk neonates to predict occurrence of major neurological handicaps. Because of the relative invasive character of HMPAO scan in neonates and the overall accuracy of the noninvasive tests, radionuclide examination should not be performed in every high-risk neonate. According to our results, 99mTc-HMPAO brain SPECT might be indicated in those children where noncongruent results were obtained with conventional studies.

Congenital hypopituitarism: results of pituitary stimulation tests and of magnetic resonance imaging in a newborn girl.

We report the case of a newborn girl in whom hypopituitarism was diagnosed in the neonatal period. Clinical, biological and radiological evidence suggested that hypopituitarism must have existed before delivery, yet MRI findings were similar to those described in older children with hypopituitarism of later onset.

Determination of thyroid volume by ultrasound from the neonatal period to late adolescence.

The volume of the thyroid gland was determined by ultrasonography in 256 euthyroid subjects aged 0-20 years in Brussels, an area with borderline iodine intake (median urinary iodine: 6.8 micrograms/dl). The volume of each lobe was calculated separately using the formula of an ovoid (Depth x Length x Width x pi/6). The total thyroid volume was obtained by summation of the volume of both lobes. In neonates, mean volume (SD) was 0.84 (0.38) ml and the distribution was asymmetric, skewed towards elevated values (median: 0.76 ml); the volume was best correlated with body surface area (P less than 0.01). Thyroid volume significantly increased (P less than 0.001) until the age of 8 without being influenced by sex and thereafter varied widely: it increased from 2.7 (0.8) ml in prepubertal subjects aged 8-11 years to 11.6 (4.4) ml in late pubertal aged greater than 17 years. This increase was significantly correlated not only with chronological age but also with pubertal stage and seemed to happen early, with the onset of the first clinical signs of puberty. At all ages, the volume of the right lobe was slightly higher than the left lobe but the difference was not significant.

Smoking during pregnancy: a significant cause of neonatal thyroid enlargement.

The influence of maternal smoking during pregnancy on the function and the echographic volume of the neonatal thyroid gland was examined in an area of borderline iodine intake (median maternal urinary iodine: 315 range 79-1558 nmol/l). There was a positive correlation (P less than 0.001) between cord serum thiocyanate (SCN) concentrations used as an index of maternal smoking and the maternal smoking habits. The thyroid volume/birthweight ratio increased significantly as a function of SCN values (P less than 0.005): this increase was secondary to a decrease in birthweight as well as to an increase in thyroid volume. There was also a positive correlation between cord serum thyroglobulin (Tg) and SCN levels (P = 0.001). Serum thyroid-stimulating hormone (TSH) and free thyroxine (FT4) values remained within the normal range for age in all newborn infants and were not significantly correlated with SCN values. These results show that smoking during pregnancy in areas with borderline iodine intake may be a significant cause of thyroid enlargement in the newborn.

Corticosteroids in primary tuberculosis with bronchial obstruction.

The usefulness of prednisolone in combination with the modern potent antituberculous drugs has been studied in 29 children with primary lung tuberculosis and hilar adenopathy causing bronchial obstruction. These children were divided at random in two groups of 15 and 14 patients. Both groups were treated similarly except that one group received prednisolone. Both groups were very similar before the onset of treatment for most variables. Tuberculous infection healed in both groups but the group on steroids improved earlier and had significantly fewer complications, both on radiography and bronchoscopy. Only two of the patients on steroids still had progressive lesions: a very young baby probably because he developed two severe viral infections consecutively, and another infant of 7 months whose treatment was unreliable, as the parents were not very compliant. Some patients initially not treated with prednisolone improved only after it was given. Prednisolone treatment is not recommended when the reliability of the treatment cannot be guaranteed, as the hazard of harm would exceed the expected benefit.

Cerebral palsy: initial experience with Tc-99m HMPAO SPECT of the brain.

The outlook for children with cerebral palsy is determined by the severity of motor problems and the presence of associated disabilities, in which early detection remains a medical challenge. The authors studied 13 children (aged 13 months to 12 years) with cerebral palsy by means of single photon emission computed tomography (SPECT) of the brain with technetium-99m hexamethylpropyleneamineoxime (HMPAO). In all children with hemiplegia, SPECT demonstrated hypoperfusion in the hemisphere contralateral to the motor deficit. SPECT demonstrated normal findings in patients with mild diplegia; bilateral hypoperfusion in the superior motor cortex in patients with moderate di- or tetraplegia; and bilateral reduction of perfusion in the superior motor, inferior motor, prefrontal, and parietal cortices in patients with severe di- or tetraplegia. Results suggest that Tc-99m HMPAO SPECT of the brain is a valuable complementary tool for thorough neurologic assessment in cerebral palsy.

Contribution of thyroid ultrasound and serum calcitonin to the diagnosis of congenital hypothyroidism.

UNLABELLED: To elucidate the role of thyroid ultrasound (TU) in the diagnosis of congenital hypothyroidism (CH), we compared 1) TU and thyroid scintigraphy (TS) in 6 CH newborns and 2) TU results in the 6 CH newborns, in 8 newborns with "false positive" results at screening, in 13 CH children aged 2 mo to 12 yr treated since the neonatal period and in 235 controls aged 0-12 yr. RESULTS: 1) In all 6 CH newborns with no thyroid uptake at TS, TU evidenced small posterior hyperechogenic masses in the thyroid area [Vol: 322 +/- 180 (SD) mm3]; 2) In all normal controls and in the 8 "false positive" cases at screening TU showed normal thyroid structures. The thyroid volume was 831 +/- 383 mm3 in normal newborns and progressively increased with age. In the older CH children, TU also demonstrated the hyperechogenic masses, but their volume barely increased with age: as a consequence, the difference between the volume of the masses in CH patients and the thyroid tissue in controls, already significant in newborns (p less than 0.01), markedly increased with age. The exact nature of these masses is unknown; they could represent poorly vascularized ultimobranchial remnants containing the calcitonin - secreting cells: this hypothesis is supported by our finding that serum concentrations of calcitonin (measured by a sensitive extraction method) (mean +/- SD, pg/ml) were lower in the CH patients (2.9 +/- 1.5) than in controls (13.0 +/- 6.9; p less than 0.001) at birth. In conclusion, in all cases of CH, TU showed abnormal structures in the thyroid area. TU and TS provide complementary information in the diagnosis of CH, and TU should be routinely performed in all newborns suspected of CH to avoid unnecessary use of TS in unaffected infants.

Lymph node enlargement as a sign of acute hepatitis A in children.

Abdominal ultrasound was performed in 58 children presenting with proven acute hepatitis A and in 63 controls of the same age. There are well-known echographic signs of hepatitis (liver enlargement, gallbladder wall thickening, periportal hyperechogenicity) but they were not constantly found. We describe in all the hepatitis cases an enlargement of lymph nodes located in the hepatic hilum, pancreatic area and small omentum: they appeared hyperechogenic at the centre with hypoechogenic outer layer. Such enlarged lymph nodes were not observed in the controls.

Brain single photon emission computed tomography in neonates.

This study was designed to rate the clinical value of [123I]iodoamphetamine (IMP) or [99mTc] hexamethyl propylene amine oxyme (HM-PAO) brain single photon emission computed tomography (SPECT) in neonates, especially in those likely to develop cerebral palsy. The results showed that SPECT abnormalities were congruent in most cases with structural lesions demonstrated by ultrasonography. However, mild bilateral ventricular dilatation and bilateral subependymal porencephalic cysts diagnosed by ultrasound were not associated with an abnormal SPECT finding. In contrast, some cortical periventricular and sylvian lesions and all the parasagittal lesions well visualized in SPECT studies were not diagnosed by ultrasound scans. In neonates with subependymal and/or intraventricular hemorrhage the existence of a parenchymal abnormality was only diagnosed by SPECT. These results indicate that [123I]IMP or [99mTc]HM-PAO brain SPECT shows a potential clinical value as the neurodevelopmental outcome is clearly related to the site, the extent, and the number of cerebral lesions. Long-term clinical follow-up is, however, mandatory in order to define which SPECT abnormality is associated with neurologic deficit.

Unusual ventilation-perfusion patterns in primary lung tuberculosis.

We report two cases of primary lung tuberculosis in children with unusual perfusion ventilation scintigraphic patterns. In the first case, a mismatch in the right upper lobe suggests an elective compression of the bronchi by the mediastinal lymph nodes; in the second case, the total absence of ventilation and perfusion of the left lobe at scintigraphy illustrates the discrepancy sometimes encountered between chest x-ray and lung scintigraphy.