Images in clinical medicine. Marchiafava-Bignami disease.
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Alcohol-Induced Disorders, Nervous System↗
Biomedical subjects
Philippe Demaerel
Publications and source records attributed to Philippe Demaerel.
Magnetic resonance angiography in suspected cerebral vasculitis.
The purpose of this study was to determine the technical capacity and diagnostic accuracy of 3D time-of-flight magnetic resonance angiography (MRA) in suspected cerebral vasculitis in a retrospective analysis of MRA and digital subtraction angiography (DSA) in 14 young patients with clinical and/or radiological suspicion of cerebral vasculitis. A total of nine arteries were evaluated in each patient. Consensus review of DSA by three observers was the reference standard. The sensitivity for detecting a stenosis varied from 62 to 79% for MRA and from 76 to 94% for DSA, depending on the observer. The specificity for detecting a stenosis varied from 83 to 87% for MRA and from 83 to 97% for DSA. Using the criterion "more than two stenoses in at least two separate vascular distributions" to consider the examination as being true positive, the false-positive rates for MRA and DSA were comparable. MRA plays a role as the first angiographical examination in the diagnostic work-up of suspected cerebral vasculitis. When more than two stenoses in at least two separate vascular distributions are depicted on MRA, DSA is not expected to add a significant diagnostic contribution in a patient with suspected cerebral vasculitis. DSA remains necessary when MRA is normal or when less than three stenoses are seen.
Adult↗
Langerhans cell histiocytosis of the cervical spine: a single institution experience in four patients.
When Langerhans cell histiocytosis (LCH) occurs at critical sites, such as in the cervical spine, there is a substantial risk for morbidity. Therefore, reports on clinical experiences with those patients remain important. We summarize the history of four patients with unifocal LCH at the cervical spine. All four patients received a biopsy to prove the histopathological diagnosis of LCH by demonstration of CD1a+cells. They were treated with oral prednisolone. All patients recovered completely and kept a normal function of the cervical spine. No reactivation of the disease occurred with an observation time of 3.4-7.3 years. This report contributes to the clinical experience for the treatment of LCH at critical sites.
Adolescent↗
Transient local response and persistent tumor control in a child with recurrent malignant glioma: treatment with combination therapy including dendritic cell therapy. Case report.
Treatment of malignant glioma is difficult and discouraging. Even after resection and maximal adjuvant therapy, the prognosis remains poor. The authors sought a novel form of treatment, such as stimulating the patient's own immune response against the tumor, and developed a protocol of tumor vaccination in which autologous dendritic cells (DCs) were used in patients with recurrent malignant glioma. A 4-year-old girl was treated by means of biopsy sampling and radiotherapy for a rolandic low-grade glioma. Ten years later, a Grade III recurrence was discovered and treated with subtotal resection, interstitial radiation, six courses of oral temozolomide, and 12 courses of oral VP 16. At the end of the chemotherapy cycle, a new rapidly growing recurrence was diagnosed. A macroscopically complete resection was performed. Afterward, the girl was vaccinated with autologous DCs that had been pulsed ex vivo with the homogenate of the resection specimen. She received six vaccines in total. The efficacy of immunization was checked by a positive delayed-type hypersensitivity skin reaction after the second injection. After the fifth vaccine, a transient contrast enhancement without mass effect was visualized on magnetic resonance imaging. Simultaneously, positron emission tomography imaging revealed a transient increase of metabolic activity around the resection cavity, but the metabolic uptake ratio remained below 1.8. The patient's disease is still in complete remission 24 months after the last surgery. She is clinically well with minor and stable left hemiparesis. This case report illustrates the potential of vaccination with DCs loaded with crude tumor homogenate as adjuvant therapy to induce prolonged tumor control of malignant glioma and the objective noninvasively monitored immune response against infiltrating tumor cells.
Astrocytoma↗
Dural arteriovenous fistula as a late complication of upper cervical spine fracture. Case report.
The authors report an unusual case of a dural arteriovenous fistula (DAVF) in the cervical spine after a C1-2 fracture. The patient presented with a delayed epidural hematoma and quadriparesis. The DAVF was successfully treated by coil embolization and the patient made a full recovery. The possibility of a DAVF as a late complication of an upper cervical spine fracture should be considered when a patient presents with a spinal epidural hematoma.
Adult↗
Partial rhombencephalosynapsis.
We describe an infant in whom partial rhombencephalosynapsis was diagnosed by using MR imaging. The anterior vermis and nodulus were normally developed, but part of the posterior vermis was deficient. There was partial fusion of the hemispheres in the inferior part of the cerebellum. Partial rhombencephalosynapsis is described for the first time, and our findings support the recent embryologic observations.
Abnormalities, Multiple↗
D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).
Cardiomyopathy and leukodystrophy are life-threatening complications of multiple acyl-CoA dehydrogenase deficiency (MADD). A 2-year-old boy with this disorder developed rapidly progressive leukodystrophy resulting in complete paralysis within 4 months. Within a week of starting sodium-D,L-3-hydroxybutyrate he had improved. After 2 years, neurological function returned, including walking independently, with progressive improvement of brain MRI. Two additional infants with MADD developed life-threatening cardiomyopathy unresponsive to conventional treatment. On sodium-D,L-3-hydroxybutyrate treatment their cardiac contractility showed progressive and sustained improvement. D,L-3-hydroxybutyrate is a therapeutic option for cerebral and cardiac complications in severe fatty acid oxidation defects.
3-Hydroxybutyric Acid↗
Imaging features of multifocal primary rhabdoid tumour of the central nervous system with meningeal and spinal metastases.
We present a 1-year-old boy with histologically proven multifocal rhabdoid tumour of the brain with meningeal and spinal metastasis. Although very rare and without specific radiological features, the possibility of rhabdoid tumour should be kept in mind when imaging paediatric intracranial and spinal neoplasms.
Brain Neoplasms↗
Accuracy of diffusion-weighted MR imaging in the diagnosis of sporadic Creutzfeldt-Jakob disease.
The definitive diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) is based on brain autopsy. The 14-3-3 analysis in the CSF is considered a highly sensitive and specific procedure. Sensitivity, specificity and accuracy of EEG, the 14-3-3 assay and MR imaging in 12 patients referred for suspected sCJD were calculated. We suggest that diffusion-weighted MR imaging (DWI) should be included in the array of diagnostic tests because of the 100 % sensitivity and specificity.
Aged↗
Segmental spinal cord hypoplasia and meningocele with preservation of medullary function: case report.
BACKGROUND: In very rare dysraphic cases, it is not clear whether the primary abnormalities are in the neural elements, or in the bony elements. CASE DESCRIPTION: We describe a case of segmental hypoplasia of the spinal cord, with absent nerve roots in the afflicted segments, and associated meningocele and vertebral abnormalities. We illustrate the arguments for and against the classification of this lesion either as an atypical case of myelomeningocele (MMC) or as a mild case of segmental spinal dysgenesis (SSD). CONCLUSIONS: Possibly, in this exceptional case, the primary defect is in the neural tissue like in more usual cases of MMC and not in the spine, like in segmental spinal dysgenesis.
Child↗
Stroke caused by cerebral air embolism during endoscopy.
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Aged↗
Acquired cerebellar cavernous angioma following childhood radiotherapy in a patient with neurofibromatosis type 1.
We report the unusual case of a patient with neurofibromatosis type I, who was irradiated 16 years previously for a mesencephalic glioma causing hydrocephalus, and who developed a cerebellar haemorrhage caused by a histologically confirmed cavernous angioma, that was invisible on several earlier MRI scans. The different hypotheses concerning the de novo formation of cavernous angiomas (venous obstructive disease and genetic abnormalities) are succinctly reviewed.
Adolescent↗
MRI demonstration of orbital lipolysis in anorexia nervosa.
The purpose of this article is to describe the orbital changes due to lipolysis in anorexia nervosa. We examined a cachectic patient with MR imaging using T1-weighted images before and after contrast enhancement. Orbital fat edema has been observed in extreme forms of cachexia and the CT and MR findings have recently been reported. The imaging appearances have been explained by the disappearance of the fat tissue and the appearance of edema due to a disturbance in the electrolyte fluid balance. In the recent literature particular attention has been paid to the increased lipid peroxidation and lipolysis in anorexia nervosa. These metabolic processes result in an increased permeability of the vessel wall endothelium, which can explain the extravasation of the contrast agent in the orbital fat on MR imaging.
Adipose Tissue↗
Visual pathway glioma in children treated with chemotherapy.
Visual pathway gliomas occur predominantly in young children. Chemotherapy has been increasingly used as a first-line treatment because of the complications caused by radiotherapy and surgery. Nine children between 6 months and 9 years (median age of 4.8 years) were treated with vincristine and carboplatin according to the SIOP (Société Internationale d'Oncologie Pédiatrique) low-grade glioma 1996 protocol. Five patients had evidence of neurofibromatosis type 1. Magnetic resonance imaging (MRI) and ophthalmological assessment were performed during and after treatment. There was a positive response in all children (100%). Three patients developed progressive disease between 8 and 12 months after ceasing treatment. One of them, being only 2.5 years old, was again treated by chemotherapy with partial response on MRI. Patients with neurofibromatosis type 1 never developed progressive disease. Our data suggest that chemotherapy is an effective treatment option in young children with visual pathway gliomas. MRI is an important means of monitoring the tumour response provided that a rigid imaging protocol is used to detect the early tumoral changes.
Antineoplastic Combined Chemotherapy Protocols↗
Acute lymphoblastic leukaemia presenting with low back pain.
We report a 13-year-old boy with a 3-month history of low back pain following a mild trauma. Extensive osteoporosis and vertebral collapses were seen on conventional X-ray and computed tomography scan. Laboratory findings were non-specific. Bone marrow infiltration was observed on magnetic resonance imaging, suggesting a myeloproliferative disorder. Although not diagnostic, marrow infiltration in a child with osteoporosis should raise the suspicion of leukaemia.
Adolescent↗
Imaging tutorial: differential diagnosis of bright lesions on diffusion-weighted MR images.
High sensitivity (94%) and specificity (100%) have been reported in the diagnosis of acute cerebral infarction with diffusion-weighted magnetic resonance (MR) imaging. However, high signal intensity on diffusion-weighted MR images and low apparent diffusion coefficient values (similar to the findings in acute cerebral infarction) were reported in such diverse conditions as hemorrhage, abscess, lymphoma, and even Creutzfeldt-Jakob disease. The differential diagnosis of these conditions (eg, acute ischemic infarction and acute cerebral hemorrhage) is critical for the determination of appropriate treatment. The authors present a systematic review of bright lesions on diffusion-weighted MR images and their differential diagnosis, with emphasis on the practical and clinical approaches of differential diagnosis.
Acute Disease↗