[Radiological case study].
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Bone Neoplasms↗
Biomedical subjects
V Merzoug
Publications and source records attributed to V Merzoug.
[Imaging of CNS manifestations of tuberous sclerosis in children].
Tuberous sclerosis (TS) is a frequent phakomatosis, with autosomal dominant transmission. The diagnosis relies on a list of criteria (2 major criteria or 1 major criterion and 2 minor criteria). Brain MRI is very important for diagnosis, already showing the major signs during fetal life: subependymal nodules, tubers and giant cell astrocytomas. In childhood, FLAIR sequences are the more interesting while in fetuses, neonates and infants T1 sequences are required because of the myelination process.
Brain↗
[What is your diagnosis? Colonic duplication, noncommunicating, calcified].
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Abdomen, Acute↗
[Partial corpus callosum agenesis].
PURPOSE: The diagnosis of corpus callosum agenesis (CCA) with prenatal MRI relies on indirect signs. However, they are known to be inconstant in case of incomplete CCA. The purpose of this study is to specify the frequency of indirect signs in partial CCA to approach the reliability of fetal MRI. MATERIALS AND METHODS: This retrospective study included 33 children with partial CCA. MRI were reviewed by two observers and a standardized radiological and clinical data collection was performed. Depending on the ratio CC length/anteroposterior brain diameter, two groups were statistically compared: subtotal partial CCA and mild partial CCA. RESULTS: 14% of patients had none indirect sign and 33% had only one sign. We found a significative difference of frequency for most of the indirect signs. 48% of patients had other cerebral anomalies. Clinical correlation showed no statistical difference between the two groups. CONCLUSION: This series shows that indirect signs are inconstant in partial CCA and related to the CC length. In contrast, mild and subtotal CCA have a similar neurological outcome. These data suggest that greatest care has to be taken in the interpretation of fetal MRI.
Agenesis of Corpus Callosum↗
Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia.
OBJECTIVE: Congenital disorders of glycosylation (CDG), formerly called carbohydrate-deficient glycoprotein syndromes, constitute a newly identified group of multisystem disorders characterized by defective glycosylation of N-glycosylated proteins. The objective of this work was to describe precisely neurological findings in patients with type Ia CDG (CDG-Ia) and to compare our results with the literature. STUDY DESIGN: We retrospectively reviewed neurological and neurodevelopmental, neuroimaging, and genetic features in ten patients with CDG-Ia who mainly presented with neurological abnormalities during childhood and therefore were referred to a neuropediatrician or a neurogeneticist. RESULTS: Neurological manifestations had a static clinical course, dominated by mental retardation and cerebellar dysfunction, and acute episodes: stroke-like episodes and seizures. However, microcephaly, retinopathy, and polyneuropathy were progressive. All patients had severe global neurodevelopmental delay: only one was able to walk alone at ten years of age and only one could read. Marked heterogeneity in manifestations and delay of diagnosis was noted across the patients. Cerebellar hypoplasia was found by magnetic resonance imaging in all ten patients and olivopontocerebellar hypoplasia in four patients. As in the literature, there was no clear phenotype-mutation correlation. CONCLUSION: Our findings confirm the importance of a precise and complete description of the neurological and neuroradiological phenotype delineating the phenotype of CDG-Ia to increase the likelihood of diagnosing the disease.
Adolescent↗
[A peculiar form of neonatal adrenal insufficiency: the IMAGe association. Two new cases].
We report two siblings with an IMAGe syndrome. IMAGe is a newly reported syndrome characterized by the association of intra-uterine growth retardation, metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. This clinical association has only been described in five unrelated males. These two additional patients (one brother and one sister) suggest an autosomal recessive inheritance although identification of new cases will give further insight into the pathogenesis. The radiologic signs of osteopenia and metaphyseal dysplasia can suggest this diagnosis in affected individuals.
Abnormalities, Multiple↗
[Imaging of the pediatric cerebellum].
After a brief overview of embryology, histogenesis, anatomy, as well as terminology, the authors will review the main acquired (neoplastic and non-neoplastic) and congenital (malformative and non-malformative) cerebellar pathologies through a pictorial essay. Even though there is some overlap, malformations are classified into agenesis, hypoplasia, and dysplasia, either cystic or non-cystic. Their embryological origin will be discussed. The main known syndromes associated with vermian agenesis will be reviewed. Non-neoplastic acquired cerebellar lesions, including atrophy and isolated signal anomalies, will be briefly reviewed. A classification of the main cerebellar malformations will be proposed.
Cerebellar Diseases↗
[Prenatal diagnosis of isolated posterior fossa anomalies: attempt at a simplified approach].
The authors suggest, after some embryological, anatomical and nosological reviews, a simplified approach mainly based on the appearance of the pons, cerebellar hemispheres and vermis, independently from an associated cystic dilatation of the posterior fossa. Pontocerebellar hypoplasias and partial or total vermian agenesis are detailed because they can be diagnosed with a prenatal MRI. This classification based on our experience and on the literature data should be of value to evaluate the neurological prognosis.
Cranial Fossa, Posterior↗
Magnetic resonance imaging of the fetal brain.
US remains the key imaging technique for prenatal screening of CNS pathology. However, MR imaging of the fetal brain is a powerful tool to further characterize CNS anomalies, especially during the third trimester. The prognosis of CNS anomalies detected at fetal MR imaging is not always known. As such, management may be problematic with regards to medical interruption of pregnancy. A multidisciplinary approach is essential in order to insure comprehensive evaluation and management of the pregnancy.
Brain↗
[Role of MRI in the diagnosis of breast diseases].
UNLABELLED: ADVANTAGES AND LIMITATIONS: Magnetic resonance imaging of the breast is probably the most sensitive method for detecting or ruling out breast disease. It is however not as specific as expected. TECHNIQUE: All examinations are performed with and without gadolinium intravenous administration, excepted in the case of silicone implant reconstruction mammoplasty. Dynamic contrast-enhanced MRI sequences are necessary with a permanent balance between temporal resolution, spatial resolution, and signal. MRI of the breast is not indicated as a routine examination in a screening program, neither to improve the specificity of infra-clinic lesions, nor in simply dense breasts without any known risk factor or in circumscribed masses. INDICATIONS: MRI is best used to improved the sensitivity of mammography and sonography in selected patients. The selected indications are: evaluation of the volume and extension of breast lesions evaluation of the therapeutic response after chemotherapy, and detection or exclusion of the local recurrence in patients with breast conservation therapy. PERSPECTIVES: The future indications and perspectives of MRI include interventional breast radiology (MRI-guided core biopsy), and thermocoagulation therapy. It may be interesting for the evaluation of patients with contrast enhanced MRI lesions with normal mammography and sonography, and also in woman with a genetically defined high breast cancer risk.
Biopsy↗
[Techniques to improve the accuracy of CT-guided abdominal biopsy].
STUDY AIM: The aim of this paper is to present an overview of the various technical progresses made in the field of CT-guided abdominal biopsies. Recent improvements allowed to markedly increase the efficiency of biopsies and to decrease the number of complications. The main innovations concern the guidance technique itself with the availability of ultra-fast CT systems, the development of automated biopsy systems, which allow to improve the size and quality of tissue samples and numerous technical tricks, allowing an easier access to target lesions, either in patient positioning or in displacement of anatomical structures. A better management of tissue samples favored by a close collaboration with pathologists is also mandatory. The last section of the paper is an overview of the rare complications of CT-guided biopsies.
Abdomen↗
[Radiologic anomalies of pseudohypoparathyroidism: diagnostic importance].
Pseudohypoparathyroidism is a congenital metabolic disorder which is often revealed by growth retardation. The diagnosis may be suggested by plain radiological findings such as short metacarpals, mainly the fourth, epiphyseal anomalies or subcutaneous calcifications. The following biological tests are mandatory to confirm this diagnosis: CaP workup and plasma level of PTH; urine cAMP measurement after PTH challenge; Evaluation of protein Gs activity In this study of 20 cases displays will be reviewed the different radiological findings seen in patients with PsHP and the relative value discussed, such as narrowing of the spinal canal and presence of bony findings of hyperparathyroidism.
Adolescent↗