Cerebral biopsy

A 21-year-old man had an acute and very severe clinical relapse, with multiple disseminated demyehnating lesions and axonal injury on MRI and cerebral biopsy, after the third injection of interferon beta-la (19). 

Hulette CM, Earl NL, Crain BJ. Evaluation of cerebral biopsies for the diagnosis of dementia. Arch Neurol. 1992 49 28-31. 

R. D. Terry, R. Winkler, S. R. Korey, C. J. Gomez, and A. Stein A case of juvenile lipidosis The significance of electron microscopic and biochemical observations of a cerebral biopsy. J. Neuropath, exp. Neurol. 22, 557 (1963). 

Fig. 13.5. T2 -weighted gradient echo images in a patient with biopsy proven cerebral amyloid angiopathy (CAA). Extensive low signal abnormality is noted on the brain surfaces and in the parenchyma indicating the previous hemorrhages. Periventricular high intensity lesions, a common finding in CAA is also noted...

Diagnosis of mitochondrial myopathies is initially clinical, involving phenotypic (observable expression of characters and traits) evaluation, followed by laboratory evaluation. If an mtDNA mutation is detected, diagnosis is relatively straightforward in the absence of an mtDNA mutation, diagnosis becomes difficult. Laboratory studies may include blood plasma or cerebral spinal fluid measurement for lactic acid, ketone bodies, plasma acylcarnitines and organic acids in the urine. If they are abnormal, a muscle biopsy is performed. 

Stewart SS, Ashizawa T, Dudley AW et al. (1988). Cerebral vasculitis in relapsing polychondritis. Neurology 38 150-152 Stockhammer G, Felber SR, Zelger B et al (1993). Sneddon s syndrome diagnosis by skin biopsy and MRI in 17 patients. Stroke 24 685-690... 

Reports of necrotizing leukoencephalopathy in association with methotrexate have been verified by biopsy or autopsy (25,26). Serial electroencephalography can predict this, since slow-wave activity develops during the administration of high-dose methotrexate. Autopsy has shown widespread necrosis and spongiosis in the cerebral and cerebellar white matter in such cases (25). 

Two children developed neurological complications of fat emulsion therapy, including focal and generalized seizures, weakness, and altered mental status, before any systemic findings were in evidence (15). Biopsy and autopsy findings included cerebral endothehal and intravascular lipid deposition. These complications are potentially reversible with alteration of the parenteral nutrition content, highlighting the importance of their early recognition. 

This condition has been described by Rett (RIO, Rll) and Rett and Stockl (R12) in 22 children, all girls, the oldest of them 13 years of age, from a survey of 6000 mentally subnormal children. In all 22, the blood ammonia was raised from 2 to 5 times the normal the highest being 165 /ig/100 ml. The blood urea was said to be normal in all cases, as was the plasma amino acids. Where liver biopsy was obtained, this was also normal. The brain was examined in 5 children who died. They showed cerebral atrophy but no Alzheimer Type II cells. A relationship between hyperammonemia and the cerebral changes of the syndrome was postulated and attention drawn to the similarity with some of the neurological manifestations of children with urea cycle defects. However, the cause of the hyperammonemia was unexplained, and it seems unlikely that these were examples of primary urea cycle disorders. 

In this chapter, our intent is to review the rapid changes that take place in the cerebral cortex of n-3 fatty acid-deficient monkeys when their diet is subsequently supplied with ample dietary n-3 fatty acids. Juvenile rhesus monkeys who had developed n-3 fatty acids deficiency since intrauterine life were repleted with a fish-oil diet rich in n-3 fatty acids, DHA, and 20 5n-3 (eicosapentaenoic acid, EPA). The fatty acid composition was determined for the lipid classes of plasma and erythrocytes and for the phospholipid classes and molecular species of frontal cortex samples obtained from serial biopsies and at the time of autopsy. From these analyses, the half-lives ofDHA and EPA in the phospholipids of plasma, erythrocytes, and cerebral cortex were estimated. The deficient brain rapidly regained a normal or even supernormal content ofDHA with a reciprocal decline in n-6 fatty acids, demonstrating that the fatty acids of the gray matter of the brain turn over with relative rapidity under the circumstances of these experiments. 

Cerebritis is focal inflammation of brain parenchyma myelitis in the spinal cord). Cerebritis precedes abscess formation but requires an early biopsy to be seen (see Tables 20.2 and 20.10). The inflammatory infiltrate is composed of neutrophils, macrophages, lymphocytes, and plasma cells, with or without parenchymal necrosis. Septic cerebritis is usually caused by bacterial agents, most often streptococci or staphylococci, and less commonly by gram-negative organisms, such as Escherichia coli. Pseudomonas, and Haemophilus influenzae. Cerebritis also occurs around neoplasms, ruptured vascular malformations, infarcts, and traumatic lesions. 

FIGURE 20.7 Creutzfeldt-Jakob disease (CJD). Biopsy specimen from the cerebral frontal lobe of an elderly man who had displayed progressive behavioral and memory changes for a few weeks. Patches of vacuoles and synaptic depletion can be seen in the cortical gray matter. Each tiny brown dot is a synapse in the neuropil stained with synaptophysin. Vacuoles in neuronal cytoplasm indent their nuclei. (Anti-synaptophysin with hematoxylin counterstain.)... 

Bone samples for aluminium analysis have been taken from the iliac crest at the time of biopsy or at autopsy (Alfrey et al.. 1976 Maloney et al., 1982) and the specimen placed in an Al-free plastic container. Bone for histological staining is fixed in 10% buffered formalin (Maloney et al., 1982). Crapper et al. (1976) analyzed brain samples from specific areas of the cerebral cortex and from subcortical area. Alfrey et al. (1976) analyzed brain samples from frontal cortex. Whole brain as well as white and grey matter were analyzed. A description of how the specimen was handled before analysis was not provided. Crapper et al. (1976) transported and stored brain samples frozen in Al-free plastic containers and performed dissection from the frozen specimen in a dust-controlled room. All instruments and gloves were rinsed in aluminium-free water. At frequent intervals, this entire procedure was performed on standard homogenized freeze-dried brain powder to ensure little or negligible aluminium contamination. 

The majority of patients infected with the human immunodeficiency virus (HIV) have abnormalities in the central nervous system. It is frequently possible to provide a specific diagnosis on the basis of abnormalities seen by MR imaging the diagnosis is difficult in the presence of focal abnormalities with mass effect, as for example the differentiation between toxoplasmosis and cerebral lymphomas. Some clinicians recommend that all patients with AIDS and brain masses should first receive antibiotics for toxoplasmosis [83]. If improvement does not occur after medication, biopsy is considered. The most accurate diagnosis could be achieved by brain biopsy, but this can lead to substantial morbidity and mortality. Any technique that allows earlier diagnosis would enable earlier commencement of appropriate therapy. This is of particular importance in the case of lymphoma because untreated mean survival is short whereas radiation therapy and steroids may improve survival. H MRS showed significantly different biochemical profiles for AIDS-related brain lesions in 26 patients, which helped in correct diagnosis [83]. HIVpositive patients (109) were found to have focal intracranial lesions [84] 56 of these... 

Landing, B. H., and J. H. Rubinstein Biopsy diagnosis of neurologic diseases in children, with emphasis on the lipidoses. In Cerebral Sphingolipidoses. Eds. S. M. Aronson and B. W. Volk, p. 1. New York Academic Press 1962. 

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