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1.
Tidsskr Nor Laegeforen ; 121(1): 33-4, 2001 Jan 10.
Article in Norwegian | MEDLINE | ID: mdl-12013613

ABSTRACT

BACKGROUND: South American blastomycosis is primarily a lung infection often complicated by multiorgan or intracranial disease. MATERIAL AND METHODS: We describe the clinical and pathological findings of fatal cerebral blastomycosis occurring in a woman that immigrated to Norway from Brazil 23 years earlier. RESULTS: The clinical symptoms together with the radiological findings of multiple cerebral lesions and thickening of the basal meninges were interpreted as cerebral tuberculosis. Examination of cerebral spinal fluid was inconclusive. A diagnosis of cerebral fungal infection was subsequently established by brain biopsy. INTERPRETATION: This case history stresses the importance of confirming a clinical diagnosis by brain biopsy and extended investigation of the cerebrospinal fluid when intracranial lesions may have an infectious origin.


Subject(s)
Meningitis, Fungal/diagnosis , Paracoccidioidomycosis/diagnosis , Tuberculosis, Meningeal/diagnosis , Diagnosis, Differential , Fatal Outcome , Female , Humans , Magnetic Resonance Imaging , Meningitis, Fungal/pathology , Middle Aged , Paracoccidioidomycosis/pathology , Tuberculosis, Meningeal/pathology
2.
Am J Med Genet ; 75(3): 300-3, 1998 Jan 23.
Article in English | MEDLINE | ID: mdl-9475602

ABSTRACT

Ritscher-Schinzel syndrome (cranio-cerebello-cardiac syndrome, 3C syndrome) is a recently delineated disorder with Dandy-Walker malformation, congenital heart defects, and characteristic face. Various other defects, including eye and kidney malformations, have been described in the few patients reported. Here we describe 3 sibs born to consanguineous Pakistani parents with 3C syndrome. All 3 children had atrial septal defects II and ventricular septal defects and died within 3 months. Two of them had a Dandy-Walker malformation, whereas 1 had only slightly dilated ventricles. One sib had anal atresia, and another a ventrally displaced anus. The findings in the 3 sibs demonstrate the intrafamilial variation in the Ritscher-Schinzel syndrome, because the second sib did not have a Dandy-Walker malformation. Anal anomalies have not been previously reported as a component manifestation of the disorder. The occurrence of 3 affected sibs in a consanguineous family confirms autosomal recessive inheritance.


Subject(s)
Abnormalities, Multiple/genetics , Anal Canal/abnormalities , Craniofacial Abnormalities/genetics , Dandy-Walker Syndrome/genetics , Heart Defects, Congenital/genetics , Bone and Bones/abnormalities , Brain/abnormalities , Brain/diagnostic imaging , Eye Abnormalities/genetics , Fatal Outcome , Female , Humans , Infant , Magnetic Resonance Imaging , Male , Radiography , Syndrome
3.
Tidsskr Nor Laegeforen ; 115(16): 1952-6, 1995 Jun 20.
Article in Norwegian | MEDLINE | ID: mdl-7638849

ABSTRACT

Neuronal migration disorders can cause congenital cerebral malformations during the third and fourth months of gestation. They are usually classified as agyria, pachygyria, schizencephaly, polymicrogyria and heterotopic gray matter. The best diagnostic tool for detecting neuronal migration disorders is magnetic resonance imaging (MRI). Frequently, the migration disorders are associated with epilepsy, psychomotor retardation and cerebral palsy, and patients with these symptoms should always be investigated by cerebral MRI. In this article we discuss radiologic and clinical aspects in the case of six persons with different categories of migration disorders.


Subject(s)
Abnormalities, Multiple/diagnosis , Brain Diseases/diagnosis , Brain/abnormalities , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Adult , Brain/pathology , Brain Diseases/genetics , Brain Diseases/pathology , Child, Preschool , Electroencephalography , Epilepsy/diagnosis , Epilepsy/genetics , Epilepsy/pathology , Female , Humans , Infant , Intellectual Disability/diagnosis , Magnetic Resonance Imaging , Male , Neurons/pathology
4.
Biol Neonate ; 68(1): 75-80, 1995.
Article in English | MEDLINE | ID: mdl-7578640

ABSTRACT

The aim of this study was to further investigate the possibilities and limitations of the newborn piglet as a model for neonatal cerebral circulation and injury. The precerebral and cerebral circulation was visualized by aortic arch contrast injection and selective injections into internal carotid and vertebral arteries. Due to the well-developed collateral circulation, it is not possible to produce severe focal cerebral ischemia in the piglet by ligation of extracranial arteries. It is possible to produce a modified common carotid artery which supplies mainly intracerebral tissues and is accessible for continuous measurements of cerebral blood flow.


Subject(s)
Brain/blood supply , Animals , Animals, Newborn , Brain/diagnostic imaging , Brain Ischemia , Carotid Arteries/anatomy & histology , Carotid Arteries/diagnostic imaging , Cerebral Angiography , Swine , Vertebral Artery/anatomy & histology , Vertebral Artery/diagnostic imaging
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