Prenatal diagnosis and follow up of biliary atresia.
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Adult↗
Biomedical subjects
C Garel
Publications and source records attributed to C Garel.
Fetal cerebral cortex: normal gestational landmarks identified using prenatal MR imaging.
BACKGROUND AND PURPOSE: Few investigators have analyzed the MR imaging patterns of fetal gyration. Our purpose was to establish, with a large prospective series, the normal sulcation landmarks according to gestational age by using in utero MR imaging and to correlate our findings with established neuroanatomic timetables. METHODS: A standardized fetal cerebral MR examination was performed in 173 normal fetuses at 22 to 38 weeks' gestation. Eight T1- and T2-weighted coronal, axial, and sagittal slices were obtained for each fetus and systematically analyzed. The sequential development of the different fissures and sulci of the cerebral cortex with respect to gestational age were tabulated. RESULTS: Sulcation of the medial, lateral, and inferior surfaces of the brain was depicted, and a timetable for the MR depiction of the primary and secondary sulci was established for the 22- to 38-week gestational period. This timetable was in good agreement with the neuroanatomic standards of reference, with a mean lag time of 1 week. CONCLUSION: This analysis of fetal brain sulcation in a large series of fetuses contributes to a better understanding of the maturation of the fetal cortex on MR imaging studies. It furthermore provides a standard of reference that can be used to assess the normality of fetal sulcation and to diagnose gyrational abnormalities with prenatal MR imaging.
Cerebral Cortex↗
[Sonography of thoracic diseases in children].
This article reviews the major indications for chest sonography in children. Sonography should be performed after chest radiographs have been obtained in order to assess the need for further imaging with CT and/or MRI. Sonography allows accurate assessment of the pleural compartment especially for evaluation of pleural effusions, the diaphragm, peripheral lung lesions and anterior, middle and postero-inferior mediastinal lesions. Imaging of the thymus is emphasized because normal thymus can mimic pathologic situations and tumors may arise within the thymus. This technique allows tissue characterization and it is superior to other modalities in characterization of fluid. Sonography may be used to guide aspirations and biopsies. Sonography of the chest is the modality of choice in children because of its lack of ionizing radiation and ease to perform.
Age Factors↗
Ilio-psoas abscess in neonates: treatment by ultrasound-guided percutaneous drainage.
Ilio-psoas abscess is rare in neonates and is usually treated by surgical drainage. We report two cases of ilio-psoas abscess in 15- and 21-day-old infants successfully treated by US-guided percutaneous drainage as a supplement to antibiotic therapy. Clinical improvement was observed within 24-48 h of drainage and subsequent imaging demonstrated resolution of the abscess cavity. The analysis of these cases and of those previously reported indicates that imaging is essential for diagnosis. In neonates, US-guided percutaneous drainage may represent the first-choice treatment of this disease in association with antibiotic therapy.
Age Factors↗
[Chronic autoimmune thyroiditis in the child].
OBJECTIVE: The aim of the study was to describe the clinical characteristics and long-term follow-up of a group of children with chronic autoimmune thyroiditis. PATIENTS AND METHODS: Sixty children (age: 11.9 +/- 2.7 years) were studied in a retrospective analysis. RESULTS: At diagnosis, 34 of the children were hypothyroid (compensated hypothyroidism, n = 15; true hypothyroidism, n = 19) and 26 euthyroid. Thyroid ultrasonography showed characteristic features of heterogenicity and/or hypoechogenicity in all patients. Other autoimmune diseases were found in ten subjects (17%) and 23% had a family history of thyroid disease. At the end of the follow-up, nine of 45 children (20% of the cases) followed up for at least one year (mean follow-up 4.4 +/- 3.7 years), demonstrated a change in thyroid function. Hypothyroidism was detected in two initially euthyroid patients. Among initially hypothyroid patients, seven (28%) recovered normal thyroid function, allowing L-thyroxine withdrawal for four weeks, after 1.5 to 8.4 years. No factor was found to be predictive of the course of the disease. All subjects treated with L-thyroxine for hypothyroidism reached normal final height. CONCLUSION: The natural course of chronic lymphocytic thyroiditis is variable and unpredictable. Recovery from hypothyroidism does occur and can be aided by the L-thyroxine withdrawal test. The disease requires lifelong thyroid surveillance, especially in women during pregnancy, in order to avoid a potential adverse effect on the future child.
Adolescent↗
Situs inversus and bowel malrotation: contribution of prenatal diagnosis and laparoscopy.
The authors report 3 different cases of prenatal diagnosis of situs inversus associated with bowel malrotation. Heterotaxy existed in 2 cardiosplenic syndromes (1 left and 1 right isomerism), and 1 isolated situs inversus. Bowel malrotation was detected at birth by ultrasonography and intestinal contrast study. Patients underwent laparoscopic LADD's procedure and abdominal exploration in the neonatal period. The authors advocate neonatal screening and early surgical management of bowel malrotation in prenatally diagnosed heterotaxic syndromes.
Adult↗
How accurate is the prenatal diagnosis of abnormal genitalia?
PURPOSE: The prenatal diagnosis of abnormal genitalia may have a major impact on prenatal counseling and postnatal outcome. We studied the accuracy and clinical implications of the prenatal diagnosis of abnormal genitalia. MATERIALS AND METHODS: Between 1991 and 1999 the prenatal and/or postnatal diagnosis of abnormal genitalia in 53 cases was made at our institution. All cases were prenatally assessed at our Obstetrics and Fetal Medicine Department. Outcome was confirmed postnatally or by a fetopathologist in the case of pregnancy termination. RESULTS: A genital anomaly was prenatally diagnosed in 43 cases and was accurate in 34, while in 9 cases anomalies were absent at birth. In 10 cases ambiguous genitalia were not detected prenatally. The primary anomalies suspected were male pseudohermaphroditism in 19 cases and female pseudohermaphroditism in 12, including 2 cases of congenital adrenal hyperplasia. Male pseudohermaphroditism was detected prenatally in 17 cases and diagnosis was confirmed at birth. Female pseudohermaphroditism was detected prenatally in 12 cases and only 5 were confirmed and the anomaly was discovered at birth in 6. The prognosis was highly altered when many malformations or aneuploidy was associated with ambiguous genitalia. Of the 15 patients with many malformations only 3 survived, and pregnancy was terminated in 3 of 4 cases of aneuploidy. CONCLUSIONS: When pseudohermaphroditism was detected in a male fetus by an experienced ultrasonographer at a tertiary center the prenatal diagnosis was accurate in 100% of cases. The prenatal diagnosis was less accurate (46% correct) in a female fetus.
Disorders of Sex Development↗
Thickened pituitary stalk on magnetic resonance imaging in children with central diabetes insipidus.
Magnetic resonance imaging (MRI) has revealed isolated pituitary stalk thickening (PST) in certain cases of idiopathic or secondary central diabetes insipidus (DI) due to infiltrative processes. Twenty-six children with DI and PST underwent cerebral MRI at the age of 8 +/- 4 years and were followed (n = 25) by clinical and MRI evaluation for 5.5 +/- 3.6 and 3.0 +/- 2 years, respectively, but given no treatment other than hormonal substitutive therapy. Patients were subdivided into groups according to the etiology of the DI: germinoma (n = 4), Langerhans' histiocytosis (n = 5) or 'idiopathic' DI with PST (n = 17). Complete anterior pituitary evaluation in 24 of the 26 patients revealed that 14 children were suffering from associated growth hormone deficiency and 7 had multiple hormone deficiencies. At the first MRI evaluation, pituitary stalk enlargement varied from 2.2 to 9.0 mm. The anterior pituitary gland was found to be normal (n = 12), small (n = 8) or enlarged (n = 6). At the final evaluation, a change in MRI features had occurred in 16 patients: morphological and/or signal changes in the PST (n = 16; 6 of whom showed an increase in PST) and changes in anterior pituitary gland size (n = 8; 3 of whom had increased and 5 had decreased). The presence of a growing suprasellar mass with a progressively enlarging pituitary stalk was demonstrated in the 6 patients who had shown increased pituitary stalk enlargement 1.8 +/- 1.6 years after the first MRI. In 4 of these patients, a diagnosis of germinoma was made 1.3 +/- 0.6 years after PST identification by MRI at the onset of DI, but the other 2 patients showing a suprasellar mass were still categorized as 'idiopathic' at the final clinical evaluation performed 7.8 and 12.3 years after DI onset. In 10 patients (all but 1 with Langerhans' histiocytosis, showing 'idiopathic' DI) the pituitary stalk enlargement was diminished after 2.0 +/- 1.9 years of MRI follow-up, and there was a complete reversal of pituitary stalk enlargement in 5 patients. We conclude that the natural history of 'idiopathic' isolated central DI with PST is unpredictable. Although germinoma should always be considered during the first 3 years of follow-up in patients presenting isolated DI with PST by repeated investigations every 3-6 months, it remains an infrequent etiology, affecting only 15% of cases in our study.
Adolescent↗
[Cerebral anomalies associated with growth hormone insufficiency in children: major markers for diagnosis?].
PATIENTS AND METHODS: The role of cerebral magnetic resonance imaging (MRI) in the diagnosis of growth hormone (GH) deficiency in children has been studied in 100 children. The diagnosis of GH deficiency was assessed at a mean age of 6.7 +/- 4.1 years: morphological abnormalities of the hypothalamic-pituitary (HP) region have been studied in three different groups: in the first group (70 cases), the neurohypophysis was present and normally located; in the second group (ten cases) it was missing; in the third group (20 cases) the neurohypophysis was ectopic (truncated stalk syndrome with ectopic neurohypophysis, small antehypophysis, thin or non-visualized stalk). RESULTS: In the majority of cases, children presenting with only one morphological abnormality of the HP region (ectopic neurohypophysis or small antehypophysis or non-visualized or thin stalk) had an isolated GH deficiency. When multiple morphological abnormalities were present, anterior pituitary deficiency was multiple in more than half the cases. Cerebral midline anomalies (above all Chiari I malformation and basipharyngeal canal) had been observed in 20% of the children presenting with GH deficiency. In the majority of cases (95%), these anomalies were associated with one or more abnormalities of the HP region. A familial case is reported: morphological anomalies of the HP region were different for both siblings. Genetic factors are evoked. CONCLUSION: The severity of the hormone deficiency is correlated to the ectopic location of the neurohypophysis, the thin appearance or non visibility of the pituitary stalk and the associated midline anomalies.
Adolescent↗
Outcome of posterior urethral valves: to what extent is it improved by prenatal diagnosis?
PURPOSE: To assess the impact of prenatal diagnosis and evaluation on the outcome of posterior urethral valves we studied all cases of valves detected prenatally, including cases of pregnancy termination due to posterior urethral valves. MATERIALS AND METHODS: Between 1989 and 1996, 30 neonates with prenatally detected posterior urethral valves were treated at our hospital. The prenatal parameters analyzed were age of gestation at diagnosis, ultrasonographic appearance of renal parenchyma and amniotic fluid volume. Fetal urine was analyzed in 9 cases. We reviewed the outcome of 10 neonates treated for posterior urethral valves which were not diagnosed prenatally during the same period. RESULTS: Of the 30 neonatal survivors 6 (20%) had renal failure, including end stage renal disease in 2, after a mean followup of 4 years. Renal failure developed in 2 of 5 cases detected before 24 weeks of gestation, in 1 of 6 with oligohydramnios and in 2 of 5 with abnormal parenchymal renal ultrasound. Normal parenchymal ultrasound and amniotic volume could not predict for good outcome. Renal failure developed in 2 of 7 cases predicted by fetal urinalysis as good prognosis and in 1 of 2 cases predicted as poor prognosis. Pregnancy was terminated for posterior urethral valves in 5 cases based on prenatal criteria of severe renal impairment. Considering these cases as poor outcome, the rate of poor prognosis increased from 20 to 31%. Among the 10 neonates without a prenatal diagnosis of posterior urethral valves renal failure developed in 2 (20%), including end stage renal disease in 1. CONCLUSIONS: When negative parameters were absent and/or fetal urine predicted good outcome there were no cases of end stage renal disease in early infancy, which was a significant help in parent counseling. The predictive value of the currently available prenatal parameters needs to be updated with larger series specifically dealing with posterior urethral valves. According to the current data, the outcome of posterior urethral valves is not yet significantly improved by prenatal diagnosis.
Female↗
Thickened pituitary stalk on magnetic resonance imaging in children with central diabetes insipidus.
Magnetic resonance imaging (MRI) has revealed isolated pituitary stalk (PS) thickening (PST) in certain cases of idiopathic or secondary central diabetes insipidus (DI) due to infiltrative processes. Twenty-six children with DI and PST underwent cerebral MRI at the age of 8 +/- 4 yr and were followed (n = 24) by clinical and MRI evaluation, respectively, for 5.5 +/- 3.6 and 3.0 +/- 2 yr in the absence of any treatment other than hormonal substitutive therapy. Patients were subdivided into groups according to the etiology of the DI: germinoma (n = 4), Langerhans' histiocytosis (n = 5), or idiopathic DI with PST (n = 17). Complete anterior pituitary evaluation for 24 of the 26 patients revealed those suffering from associated GH deficiency (n = 14; with germinoma, n = 1; histiocytosis, n = 3; idiopathic, n = 10) and from multiple hormone deficiencies (n = 7; with germinoma, n = 3; histiocytosis, n = 1; idiopathic, n = 3). At the first MRI evaluation, PS enlargement varied from 2.2-9.0 mm at a proximal (n = 10), distal (n = 2), or middle (n = 6) PS level or along the entire PS (n = 8). The intrasellar content, which usually reflects the anterior pituitary gland, was normal (n = 12), small (n = 8), or enlarged (n = 6). At the last evaluation, a change in MRI features was found in 16 patients; morphological and/or signal changes in the PST (n = 16, of whom 6 showed an increase in PST) and changes in anterior pituitary gland size (n = 8; increased, n = 3; decreased, n = 5) were noted. The presence of a growing suprasellar mass with progressively enlarging PS was demonstrated in the 6 patients who had shown increased PS enlargement 1.8 +/- 1.6 yr after the first MRI. For 4 of them, a diagnosis of germinoma was made 1.3 +/- 0.6 yr after PST identification by MRI performed after the onset of DI, but the other 2 patients showing a suprasellar mass were still categorized as idiopathic at the final clinical evaluation performed 7.8 and 12.3 yr, respectively, after DI onset. In 10 patients (all but 1 with Langerhans histiocytosis, showing idiopathic DI), the PS enlargement was diminished after 2.0 +/- 1.9 yr of MRI follow-up, with a complete reversal of PS enlargement for 5 of them. Suprasellar mass invasion of the PS was related to multiple hormone deficiency. Although intrasellar content enlargement was observed in most patients with germinoma, a normal or small anterior pituitary gland showed no clear relationship to either clinical histories or laboratory values. In conclusion, the natural history of idiopathic isolated central DI with PST is unpredictable. Although germinoma should always be considered during the first 3 yr of follow-up in patients showing isolated DI with PST requiring repeated investigations every 3-6 months, it remains a less frequent etiology for 15% of the cases.
Adolescent↗
Growth hormone deficiency with ectopic neurohypophysis: anatomical variations and relationship between the visibility of the pituitary stalk asserted by magnetic resonance imaging and anterior pituitary function.
In GH-deficient children showing ectopic posterior pituitary hyperintense signal (EPP), the anatomical details of the pituitary-hypothalamic region and the relationship between the visibility of the pituitary stalk and anterior pituitary function were studied by magnetic resonance imaging (MRI). The absence or presence of the pituitary stalk was recorded by MRI before and after the injection of gadolinium in 25 children with GH deficiency and EPP at the age of 8.7+/-5.0 yr (16 males and 9 females). Patients were classified into 2 groups according to the presence (group 1; n = 14), or the absence (group 2; n = 11) of pituitary stalk visibility after gadolinium injection. Most patients in group 1 (12 of 14) demonstrated isolated GH deficiency, whereas all but 1 patient in group 2 showed multiple anterior pituitary hormone deficiency. The prevalence of a normally sized adenohypophysis was higher in group 1 than in group 2 (50% vs. 9%; P<0.05). Although the EPP was found at the median eminence in all group 2 patients, it was visualized in group 1 at different levels of the pituitary stalk in 60% of cases (8 of 14; at the proximal end of the pituitary stalk, n = 4; in the middle of the pituitary stalk, n = 2; at the distal end of the pituitary stalk, n = 2). This demonstrates that the ectopic posterior pituitary migration abnormality may be complete or partial. In conclusion, although the pathogenesis of GH deficiency with EPP remains unclear, these results suggest that in cases of GH deficiency associated with ectopic posterior pituitary hyperintense signal, patients with no visible pituitary stalk on MRI after gadolinium injection present a more severe form of the disease in childhood associated with multiple anterior pituitary hormone deficiency, whereas visibility of the pituitary stalk is related to isolated GH deficiency. Nevertheless, careful follow-up of these latter patients is necessary, as the natural history of the disease is not established until adulthood.
Adolescent↗
[Lytic epiphyseal-metaphyseal lesion].
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Biopsy↗
Iodixanol in paediatric excretory urography: efficiency and safety compared to iohexol.
BACKGROUND: Iodixanol (Visipaque, Nycomed Imaging AS, Oslo, Norway) is a new non-ionic and isotonic X-ray contrast medium. OBJECTIVE: To assess its safety and efficacy for paediatric excretory urography. MATERIALS AND METHODS: A three-centre trial in which 72 patients were randomised into three parallel groups: iodixanol 270 mgI/ml, iodixanol 320 mgI/ml and iohexol 300 mgI/ml (Omnipaque, Nycomed Imaging, Oslo, Norway). Doses ranging from 1 to 3 ml/kg never exceeded 50 ml. Pulse rate and blood pressure were recorded before, during, and after the examination. Adverse events, including injection associated discomfort, were recorded during and up to 24 h after the examination. The diagnostic quality of the urograms was assessed on a four-level scale. RESULTS: No serious adverse event occurred in any of the three groups. One patient who was given iodixanol 270 mgI/ml, three who received iodixanol 320 mgI/ml, and one who received iohexol 300 mgI/ml experienced transient adverse events. More than 80 % of the urograms in all three groups were rated "good" or "excellent". CONCLUSION: Iodixanol, either 270 mgI/ml or 320 mgI/ml, is well tolerated and efficacious for excretory urography in children.
Adolescent↗
Magnetic resonance imaging of the fetus.
Fetal magnetic resonance imaging (FMRI) has gained considerable interest during the last decade, especially in its intracranial applications. Due to its high soft-tissue contrast and presumed safety, FMRI should be accepted as a complementary technique in prenatal diagnosis, useful either to elucidate equivocal findings on routine US studies or to further delineate some pathological entities. Normal patterns of fetal brain maturation, as shown by FMRI, are described because they are of paramount importance to accurately evaluate intracranial diseases. To date, however, FMRI requires specialised facilities and should be considered as an evolving clinical research modality and performed within precise guidelines in a multidisciplinary approach to prenatal pathology.
Brain↗
Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex.
We report on a 1-year-old boy, with carbohydrate-deficient glycoprotein (CDG) syndrome type I due to phosphomannomutase deficiency. Radiologic examination of the skeleton revealed previously unreported bone abnormalities that could be included in a dysostosis multiplex: wide ribs, squared iliac wings, horizontal acetabular roofs, widening and modeling abnormalities of ischial and pubic bones, dorsolumbar kyphosis, and slight hook-like dysplasia of the first lumbar vertebrae. Wormian bones were also present. We suggest that these features may be due to hypoglycosylation of bone proteins and that CDG syndrome type I should be included in the differential diagnosis of dysostosis multiplex.
Congenital Disorders of Glycosylation↗
Human growth hormone treatment of short-stature children born small for gestational age: effect on muscle and adipose tissue mass during a 3-year treatment period and after 1 year's withdrawal.
In addition to its growth promoting effect, GH has profound metabolic effects that have not always been evaluated in longitudinal studies. We have recently shown that the effect of GH on body composition can be evaluated by magnetic resonance imaging measurement of adipose and muscle tissue cross-sectional (cs) areas in the thigh. The aim of this study was to evaluate the long-term effects of human GH (hGH) (0.2 IU/kg day) on muscle and adipose tissue mass during a 3-yr treatment period and after 1 year's withdrawal in short SGA (small for gestational age) children. Measurement of muscle and fat tissue mass by magnetic resonance imaging of the thighs was used to study the metabolic effect of hGH in 14 prepubertal short children born SGA. Results were compared with those of a control group of 7 normal children followed longitudinally. An increase of muscle tissue cs area was observed during the 3 yr of hGH treatment, an increase which was significantly different during the first 2 yr of treatment from that seen in controls (+31.2+/-2.6% and +18.1+/-1.8% during the 1st and 2nd year, respectively, vs. +9.1+/-2.6% change during 1 yr in controls). After a significant decrease in adipose tissue cs area during the first year of therapy (-16.4+/-3.4% vs. baseline values), an increase in adipose tissue cs area occurred during the second and third years. At the end of the third year, the muscle tissue cs area change was significantly greater in SGA-treated children, as compared with controls (+71.6+/-4.6% vs. 22.1+/-4.6%; P < 0.001), whereas the adipose tissue cs area change was similar in the two groups (+12.6+/-9.5% vs. +19.9+/-4.2%). After hGH withdrawal, the effects were opposite after 3 months, as compared with those observed after the first 3 months of hGH administration, whereas no additional significant change was seen after 1 yr off treatment, indicating the maintenance of muscle and adipose tissue mass. In conclusion, hGH administered to SGA children is effective in improving growth velocity and has long-term effects on muscle and adipose tissue mass. These effects may lead to speculation about the sensitivity of these tissues to GH. The physiological consequences of such effects must be evaluated.
Adipose Tissue↗
[Prenatal MRI of corpus callosum agenesis. Study of 20 cases with neuropathological correlations].
Twenty prenatal MR studies of corpus callosum agenesis were retrospectively studied and compared with neuropathologic examinations (18) or postnatal imaging (2). Corpus callosum agenesis were either complete (14) or partial (6). Positive diagnosis was made in 19 cases/20. The diagnosis of "isolated" or "associated" corpus callosum agenesis was assessed in 11 cases/15. MR depicted 15 of the 33 associated neurologic abnormalities. Prenatal MR is a valuable complementary technique for the diagnosis of corpus callosum agenesis when sonography is doubtful. MR could improve prognosis evaluation, since it enables depiction of associated abnormalities, notably gyral abnormalities, posterior fossa malformations, and intra-cranial cysts. MR images prove to be useful before neuropathologic examinations.
Agenesis of Corpus Callosum↗