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1.
Radiol Case Rep ; 19(8): 3512-3516, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38881617

RESUMO

This article presents a unique case of ipsilateral hemiparesis in a 66-year-old individual, contrary to the conventional understanding of supratentorial strokes causing contralateral neurological deficits. The patient exhibited persistent weakness and sensory abnormalities on the left side of the body following a left occipital infarct. Neuroimaging revealed a chronic stroke in the left occipital lobe, with diffusion tensor imaging demonstrating uncrossed pyramidal tracts at the level of the medulla. The discussion encompasses the anatomical basis of corticospinal tract crossing, historical perspectives, and previous documented cases of ipsilateral strokes. The rarity of complete uncrossed corticospinal tracts without underlying congenital abnormalities or genetic disorders is highlighted. The study underscores the importance of considering such atypical presentations in stroke evaluations and the role of advanced imaging techniques in confirming diagnosis and understanding underlying mechanisms.

2.
Cureus ; 11(10): e5946, 2019 Oct 20.
Artigo em Inglês | MEDLINE | ID: mdl-31777696

RESUMO

Introduction MRI multivoxel spectroscopy mapping is helpful in surgical decision-making. Unfortunately, in daily practice, MRI multivoxel spectroscopy mapping is not always compatible with the current version of Leksell GammaPlan (LGP) (Elekta, Stockholm, Sweden). The aim of this study is to develop a tool to allow the use of this modality in radiosurgical treatments using LGP. Material and methods Multivoxel spectroscopy digital imaging and communications in medicine (DICOM) images were analyzed to identify tags to be modified to make the images compatible with LGP. We identify four important tags to be modified for compatibility with LGP. Using Python language, a new software was designed to modify the identified tags and allow the automatic conversion of images to meet LGP requirements. Results By modifying the tags of DICOM images, we could use spectroscopic cartography images in radiosurgical planning using LGP. We created a software to reproduce these modifications using a simple and rapid interface. This software executes all the protocols established in the methodology. Conclusion The new software, "GP Adapting Solution", can convert any DICOM image and make it compatible with LGP. The integration of multivoxel spectroscopic images was feasible and could be used for radiosurgical planning. This work is the first step in allowing the potential use of new MRI modalities in radiosurgical planning using LGP. The next steps are to evaluate the impact of these modalities in radiosurgical treatments and to develop methods for integrating other imaging modalities.

3.
Case Rep Genet ; 2018: 8635698, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30581635

RESUMO

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder due to mutations in the lysosomal acid 3-galactosidase gene, GLB1. It is usually classified into three forms, infantile, juvenile, or adult, based on age at onset and severity of central nervous system involvement. Because of their broad clinical spectrum and their similarity to many other aetiologies, including inherited neurodegenerative and metabolic diseases, it is often difficult to diagnose such diseases. Recently, whole exome sequencing (WES) has become increasingly used when a strong hypothesis cannot be formulated based on the clinical phenotype. Here, we present three patients belonging to a consanguineous Moroccan family with a GM1-gangliosidosis with unusual clinical onset and atypical radiological presentation that had eluded diagnosis for over a decade. To identify the disease-causing mutation, we performed a whole exome sequencing and a chromosomal microarray genotyping in order to reduce the number of genetic variants to be interpreted, by focusing the data analysis only on the linked loci. The already known pathogenic missense mutation c.601G>A in GLB1 (p.R201C) was found at homozygous state in the proband V.1 and at heterozygous state in his father IV.1. The mutation was validated by Sanger sequencing and segregated in all the family members according to a recessive mode of inheritance. Outside of the linked loci, we found the EXOSC8 p.Ser272Thr mutation at heterozygous state in all the patients and their mother IV.2. This mutation was reported to cause pontocerebellar hypoplasia type 1C and could act as a modifying factor that exacerbates the brain atrophy of patients. Our study identified the first GLB1 mutation in North Africa in patients with unexpected brain-MRI outcomes extending the clinical spectrum of the GM1-gangliosidosis.

4.
J Med Case Rep ; 6: 329, 2012 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-23031548

RESUMO

INTRODUCTION: Cerebellar glioblastoma is an uncommon adult lesion. The pathogeny and prognosis of cerebellar glioblastoma are still incompletely elucidated. CASE PRESENTATION: We report the case of a 19-year-old Moroccan woman. A neurologic examination revealed the presence of cerebellar signs. A diagnosis of cerebellar glioblastoma is rarely made before surgery. An encephalic computer tomography scan and magnetic resonance imaging increased the accuracy of defining the nature of the lesion. Magnetic resonance imaging showed a heterogeneously enhancing mass in the vermis and the right cerebellar hemisphere. After surgery, glioblastoma was histologically confirmed. Post-operative radiotherapy followed. The outcome of our patient was favorable after one year of follow-up. CONCLUSIONS: We report an unusual case of cerebellar gliobastoma. Cerebellar glioblastoma multiforme should be considered in the differential diagnosis of a cerebellar mass lesion.

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