Development of object vision in infants with permanent cortical visual impairment.
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Biomedical subjects
Publications and source records attributed to S Felber.
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We describe a de novo constitutional (X;17) (q13;p13 translocation in a girl with the clinical features of hypomelanosis of to and plexus papilloma.
Today, patients with alveolar rhabdomyosarcoma have a favorable prognosis with a survival rate of more than 80%, due to modern radiotherapy. However, those patients with secondary meningeal involvement are still afflicted with a mortality rate of 90% unless a different therapeutic approach is taken. We report a case of a young adult with invasion of the tumor into the anterior cranial fossa. MRI aided in the assessment of the intracranial tumor spread and allowed for a direct visualization of the meningeal membranes. The signal characteristics of the tumor and the adjacent tissue in unenhanced and postcontrast MRI is discussed. MRI was clearly superior to CT and indicative for the choice of treatment.
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We present clinical and magnetic resonance (MR) findings in three patients with segmental myoclonia occurring 11-18 months after severe brainstem injury. Palatal myoclonus and vertical ocular myorhythmia were present in all three patients and synchronous involuntary movements of the upper extremities ("wing beating") in two patients. MR-imaging showed multiple post-traumatic lesions within the dentato-rubro-olivary pathway ("myoclonic triangle"), associated with bilateral enlargement and increased signal intensity of the inferior olives. The signal abnormality was more prominent on proton density weighted images than on T2-weighted images, suggesting underlying pathological changes different from typical gliosis.
The case of a 30-year-old man with posttraumatic syringomyelia involving the cervical and upper thoracic spine is reported. The patient was followed clinically and with magnetic resonance (MR) imaging over a 3-year period. Spontaneous complete remission of the syrinx-related symptoms correlated with a partial collapse of the syrinx, as proved by serial MR imaging.
Congenital anophthalmia (CA) is a rare malformation. Primary forms without development of optic nerves can be differentiated from secondary forms with rudimentary optic nerves and eye bulbi. Neuroradiologic examinations in these children are performed to differentiate primary from secondary forms and to exclude associated cerebral malformations. We report on 2 children with secondary CA, a 9-month-old girl with unilateral CA and a 3-year-old boy with bilateral CA. Magnetic resonance imaging (MRI) was superior to computerized tomography (CT) in the delineation of the rudimentary optic nerves and tracts as well as the intraorbital contents. In addition magnetic resonance images revealed partial agenesis of the corpus callosum and microgyria of the calcarine cortex in the boy. These results suggest that MRI should replace CT in the diagnosis of CA.
Progressive facial hemiatrophy (PFH) is a sporadic disease of unknown etiology. It is characterized by shrinking and deformation of one side of the face. Potential CNS involvement has repeatedly been suspected in some patients, but is still a matter of controversy. In this article we describe the clinical and MR imaging findings of the CNS in three female patients with PFH and present a comprehensive review of the literature. One of three PFH patients had partial epilepsy. MRI showed ventricular enlargement, white matter lesions, flattening of the cortical surface and meningeal adhesions homolateral to the facial hemiatrophy. Two other patients had completely normal intracranial findings. These findings confirm that cerebral hemiatrophy occurs in a subgroup of PFH patients. The MRI pattern, however, does not seem to be consistent with a simple atrophic or malnutritional process. We consider chronic localized meningoencephalitis with vascular involvement as a possible underlying mechanism for the occasional CNS involvement in PFH.
Phenytoin has been considered a possible cause of cerebellar degeneration, especially after clinical intoxication. Magnetic resonance provides the diagnosis of anatomical structures in the posterior fossa without the limitation of beam hardening artefacts. The aim of this study was to evaluate the relationship of phenytoin medication and cerebellar atrophy in 11 patients with increased serum levels (21.4 micrograms/ml-95.6 micrograms/ml). Five patients had normal cerebellar structures, although three of them had a history of clinical intoxication and all had at least one episode of increased serum level of DPH. The remaining six patients had moderate severe cerebellar atrophy (n = 4) and atrophy of the vermis cerebelli (n = 5). Two of them had never experienced clinical intoxication. There was no correlation between the degree of atrophy and severity of clinical symptoms and evaluation of serum DPH levels (up to four times normal values). There was also no correlation between cerebellar atrophy, duration of epilepsy and frequency of seizures. We conclude that phenytoin overdosage does not necessarily result in cerebellar atrophy and it is unlikely that phenytoin medication was the only cause of cerebellar atrophy in the remaining patients.
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Phosphorus (31P) magnetic resonance spectroscopy and magnetic resonance imaging were used to study the intracellular metabolism, circulation, and morphology in the brains of 3 patients with clinical brain death syndrome due to traumatic brain damage, subarachnoid hemorrhage, and acute occlusive hydrocephalus caused by a colloid cyst. Magnetic resonance spectra were characterized by a complete absence of ATP and were dominated by an intense inorganic phosphate signal. Magnetic resonance imaging revealed a uniform pattern of diffuse brain swelling and tentorial and foraminal herniation. Intracranial blood flow was absent on the magnetic resonance angiography projections. These preliminary findings suggest an important impact of magnetic resonance in the determination of human brain death.
We used magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) to investigate 14 patients with unilateral hemifacial spasm (HS) and 20 controls. The relationship of the seventh and eighth cranial nerves to adjacent vessels was best visualized on the contiguous flow sensitive 3D-FISP images. Reconstruction of projectional MRA was helpful to assess the complex architecture of the vertebrobasilar system. Neurovascular contact in the facial nerve root exit zone was present in 4 of 20 controls and in 12 of 14 patients, in whom it predicted the affected side. These results support previous findings of surgical and electrophysiological investigations that local irritation of the facial nerve is the most possible explanation for HS. MRI and MRA provide vascular and brain tissue diagnosis in a single non-invasive examination and should be recommended as primary neuroradiological procedure in HS.
A family with a history of cavernous angiomas of the brain was investigated by MRI. The disease was present in four generations of the family and is consistent with autosomal dominant inheritance. Among affected individuals, there was considerable variability in the extent of intraparenchymal cavernomas and neurological symptoms as a result of bleeding events. Three siblings manifested with seizures, two affected persons were symptom free at the time of investigation, and one sibling had neurological symptoms without certain correlation with cavernomas. The disease appeared to have an earlier onset in younger generations.
We present 3 cases and a review of the literature to demonstrate the current state of clinical diagnosis and therapy of superficial siderosis of the central nervous system. Typical symptoms were progressive cerebellar ataxia, spasticity and hearing loss. Repeated subarachnoid hemorrhage was indicated by persistent xanthochromia of the cerebrospinal fluid and confirmed by the presence of erythrophages, siderophages and iron-containing pigments. Deposition of free iron and hemosiderin in pial and subpial structures leads to intoxication of the central nervous system and represents the pathophysiological mechanism of superficial siderosis. Hypointensity of the marginal zones of the central nervous system on T2 weighted MR images indicates an iron-induced susceptibility effect and seems pathognomonic for superficial siderosis. In 39 of the 43 previously described cases superficial siderosis was verified by biopsy or autopsy. Today magnetic resonance imaging enables diagnosis at an early stage of the disease. Therapeutic management requires the elimination of any potential source of bleeding. In patients with unknown etiology no proofed therapy is yet available.
Water-suppressed proton magnetic resonance spectroscopy which has recently shown diagnostic potential in human stroke victims was performed in two patients who had suffered a hemispheric transient ischemic attack. Localized spectra were targeted from routine MR images. In one patient lactate could be observed 8 weeks after a transient ischemic attack. Lactate concentration was low compared with that of a patient who had suffered acute stroke. The other TIA patient did not show evidence of lactate production. Although these observations are preliminary, we demonstrated that localized in vivo proton spectroscopy can detect persistent biochemical alterations after transient ischemic attacks. We suggest that non-invasive in vivo proton spectroscopy will become a useful method in diagnosis and management of TIA in the future.
Five cases studied at our clinic are discussed and the literature reviewed with the aim of assessing the diagnostic value of various examination methods used for Wilson's disease and a modified diagnostic approach is suggested. CT and MRI are compared with regard to sensitivity, specificity and prognostic value. Almost regularly, MRI showed bilateral lesions in the basal ganglia in combination with structural changes in the brain stem. A pattern consisting of symmetrical lesions of the red nuclei, the periaqueductal grey region and, facultatively, the substantia nigra and the dentate nuclei was discovered and appeared almost pathognomonic. Follow-up studies revealed excellent reversibility of MRI changes by both penicillamine and trientine. Auditory evoked potentials showed the highest sensitivity and the best correlation with structural findings. Kayser-Fleischer corneal rings--a diagnostic requirement in the literature--were not found in all patients. The current state of therapy and therapy management is discussed on the basis of pathophysiological considerations. As possible complications of penicillamine administration the deterioration of the clinical condition after initiating therapy, and the risks associated with an abrupt termination of therapy are discussed in detail.