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Pascale Sonigo

Publications and source records attributed to Pascale Sonigo.

7 recordsLinked to original sources
PubMed2004

Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different.

In type I or classical lissencephaly, two genetic causes, namely the LIS1 gene mapping at 17p13.3 and the DCX (doublecortin on X) gene mapping at Xq22.3 are involved. These are considered to act during corticogenesis on radial migratory pathways. The prevailing view is that heterozygous mutations in the LIS1 gene and hemizygous mutations in the DCX gene produce similar histological pattern. The present detailed neuropathological study in two unrelated fetuses with respectively a mutation in the LIS1 and the DCX genes do not confirm this view. In LIS1 mutation, the cortical ribbon displays a characteristic inverted organization, also called "four layered cortex" while in DCX mutation, the cortex displays a roughly ordered "six layered" lamination. Our hypothesis is that mutations of the LIS1 and DCX genes, may not affect the same neuronal arrangement in the neocortex. Because the pathology of proven XLIS is rarely documented, further detailed neuropathological analysis in other cases identified through molecular study would be of a great help in the recognition of neuronal population involved in these migrational disorders and their underlying molecular mechanism.

1-Alkyl-2-acetylglycerophosphocholine Esterase↗
PubMed2004

Fetal lung volume estimated by 3-dimensional ultrasonography and magnetic resonance imaging in cases with isolated congenital diaphragmatic hernia.

OBJECTIVE: To assess the agreement of 3-dimensional ultrasonography and magnetic resonance imaging in estimating fetal lung volume in cases with isolated congenital diaphragmatic hernia. METHODS: Fetal lung volume was measured in 11 cases of congenital diaphragmatic hernia (10 left and 1 right) by 3-dimensional ultrasonography and magnetic resonance imaging. These examinations were performed during the same week. The operators were blinded to each other's results. Intraclass correlation was used to evaluate the agreement between 3-dimensional ultrasonography and magnetic resonance imaging estimations of the ipsilateral, contralateral, and total fetal lung volume. A Bland-Altman graph was plotted to detect possible discordant observations. RESULTS: The global intraclass correlation coefficient between magnetic resonance imaging and 3-dimensional ultrasonographic measurement of fetal lung volume was 0.94 (95% confidence interval, 0.78-0.98) with no outliers observed on the Bland-Altman plot. CONCLUSIONS: There is a good agreement between 3-dimensional ultrasonography and magnetic resonance imaging for fetal lung volume estimation in cases with congenital diaphragmatic hernia.

Adult↗
PubMed2003

Fetal CT.

INTRODUCTION: Fetal CT is helpful in the diagnosis of bony anomalies, particularly with 3D reconstructions. DISCUSSION: Because of the potential risks of irradiation, CT should not be performed before 32 weeks' gestation and should be restricted to a carefully selected group of patients.

Central Nervous System Vascular Malformations↗
PubMed2003

Malformative intracranial cysts: diagnosis and outcome.

INTRODUCTION: Prenatal investigations make it possible to follow up malformative intracranial cysts from their detection in utero through the postnatal period. By including those that will remain silent postnatally, precious information can be provided about their real natural history. DIAGNOSIS: Contrary to common belief, the vast majority of these lesions, if not associated with other fetal anomalies, are benign in nature, remain clinically silent, do not evolve or even frequently regress spontaneously. They are compatible with a strictly normal life, whether requiring postnatal treatment or not. TREATMENT: Surgery is rarely needed for the treatment of an evolving hydrocephalus or an expanding cyst. PROGNOSIS: Clinical outcome is not correlated with cyst volume or location. Prognosis, therefore, does not rely upon brain deformation or translation but rather more upon brain integrity. To establish a correct prognosis all efforts must therefore aim to precisely analyze the brain anatomy. In this respect, fetal MRI is mandatory. Although chromosomal anomalies are rarely associated with isolated intracranial cysts, karyotype study is necessary. CONCLUSION: The accuracy of diagnosis and prognosis depends mainly upon our ability to correctly interpret images, which in turn depends on the resolution of prenatal imaging and on experience. Median retrocerebellar fluid collections remain the most difficult to prognosticate, retrocerebellar cysts often being difficult to differentiate from mega cisterna magna and Dandy-Walker complex. In our hands, prenatal prognostication was correct in approximately 90% of the cases.

Brain↗
PubMed2003

Features of the developing brain.

INTRODUCTION: Fetal brain evaluation implies a perfect knowledge of the timing and characteristics of the developing nervous system during gestation. DISCUSSION: The first half of gestation corresponds to the neurulation, differentiation of primary cerebral vesicles, and neuronogenesis. The second half is characterized by the tremendous growth of the cerebral hemispheres and the settlement of gyral formation, while the ventricular system undergoes gradual narrowing. Gyral formation follows an invariable temporospatial schedule and is a good marker of fetal maturation. At the histological level, the fetal cortex displays transient developmental features, a superficial granular layer, and cells of Cajal-Retzius, which disappear at term. Neuroblasts formation has usually ceased by the 16th week of gestation, while neuronal migration continues until the extinction of the germinal layer. At this time, the remnant of the germinal layer constitutes, between the thalami and the caudate nucleus, an eminence of tightly packed cells, called the ganglionic eminence or germinal zone. They disappear by the age of 1 year.

Aging↗
PubMed2003

Lumbosacral lipomas: in utero diagnosis and prognosis.

INTRODUCTION: For the purposes of prenatal counselling and prognostication, it is essential to keep in mind the key diagnostic criteria allowing recognition of the diverse forms of spinal dysraphism. DIAGNOSIS: It is most crucial not to confuse lipomas and myelomeningoceles, the former carrying a usually favourable prognosis, while the latter a high risk of serious neurological deficits. In our experience, these two conditions can be clearly distinguished on prenatal ultrasound and by fetal biology. Lipomas are skin-covered, which explains the normality of the amniotic fluid and probably that of the intracranial content (no Chiari, no hydrocephalus). These features are distinct from those observed in the case of myelomeningoceles. The distinction between a lipoma and a meningocele is more difficult. The prenatal ultrasound presentation of many lipomas actually resembles that of a meningocele. In a few cases, the diagnosis of lipoma can, however, be suspected by the presence of an abnormally thick skin covering and intradural echoic structures that evoke a low-lying cord. CONCLUSIONS: However, the consequences of confusing a lipoma and most of the other types of occult dysraphism are minimal. Most of these lesions carry a favourable outcome.

Female↗