Value of brain biopsy in neurodegenerative disease in childhood.

Boltshauser, Eugen; Wilson, John

doi:10.1136/adc.51.4.264

Cited by 15 publications

(7 citation statements)

References 18 publications

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“…The yield of brain biopsy in these scenarios varies from 20% to 43%. There are very few reports looking at children, [4][5][6][7] as brain biopsy is rarely done in children.…”

Section: Methodsmentioning

confidence: 99%

Diagnostic Yield of Brain Biopsies in Children Presenting to Neurology

2008

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The role of brain biopsy is well established in patients with neoplastic lesions, with a diagnostic yield approaching 95%. The diagnostic yield of brain biopsy in adults with neurological decline varies from 20% to 43%. Only a few studies have examined the diagnostic yield of brain biopsy in children with idiopathic neurological decline. A retrospective analysis was conducted on all open and closed pediatric brain biopsies performed between January 1988 and May 2003. Biopsies were performed for diagnostic purposes in patients showing a progressively deteriorating neurologic course in whom less-invasive modalities such as neuroimaging, electroencephalography (EEG), and molecular genetic studies were either negative or inconclusive. Immunocompromised patients were included. Patients were excluded if the preoperative diagnosis was a neoplasm or if the patient was undergoing a resection as part of a work-up for intractable epilepsy. Each patient underwent numerous investigations before brain biopsy. The utility of each biopsy was analyzed. Sixty-six children had brain biopsies performed for diagnostic purposes during the study period. Patient ages ranged from 2 months to 16 years and 9 months at the time of biopsy. The diagnostic yield was 48.5% overall, with a yield of 68.8% between 1996 and 2003. Of the total, 26 (39.4%) biopsies were both diagnostic and useful. Patients most frequently presented with seizures (56.1%) and encephalopathy (33%). The most frequently diagnosed disease was vasculitis (18.2%). A total of 71.9% of patients with diagnostic biopsies improved with appropriate treatment. Brain biopsy in children had a diagnostic yield of 48.5% in our series. A specific diagnosis may help in management and outcome, especially with a diagnosis of vasculitis.

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“…The yield of brain biopsy in these scenarios varies from 20% to 43%. There are very few reports looking at children, [4][5][6][7] as brain biopsy is rarely done in children.…”

Section: Methodsmentioning

confidence: 99%

Diagnostic Yield of Brain Biopsies in Children Presenting to Neurology

2008

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“…Thus 55% of the attempted biopsies proved useful and we regard this as full ethical justification for the use of this procedure in childhood. This positive diagnosis and helpful biopsy rate compares favourably with rates of 13% for cerebral biopsy (Boltshauser and Wilson, 1976) and 34% positive diagnoses for jejunal biopsy in children (Townley and Barnes, 1973). It is also considerably better than the overall helpful cardiac biopsy rate ofaround 10 % in adults because of the greater value of normal biopsies which help to exclude endocardial fibroelastosis.…”

Section: Discussionmentioning

confidence: 67%

Cardiac biopsy in childhood.

MacKay¹,

Pickering²,

Littler³

1977

Archives of Disease in Childhood

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SUMMARY Endomyocardial biopsy was attempted in 18 children aged 5 months to 15 years with 82% success. Biopsies obtained from 15 children were examined by light and electron microscope making positive morphological diagnoses in 3 cases. The biopsy findings were actively helpful in 7 other cases, which contrasts with experience in adult biopsy series. This is a low risk procedure which does not add to the hazards of cardiac catheterization in children.

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“…Demyelination not only is seen by light microscopy but also can be supported by chemical analysis of the same areas, which show a decrease in cerebroside and an increase in cholesterol esters [7]. It is possibly of importance that the onset of AD in J.N.…”

Section: Discussionmentioning

confidence: 99%

“…AD may be suspected clinically; however, a brain biopsy or postmortem examination of the central nervous system is necessary to establish a diagnosis [ 7 ] . Affected infants generally do not survive past the age of 5 or 6years; megencephaly, psychomotor retardation, seizures, spasticity, and nonobstructive ventriculomegaly are typical.…”

mentioning

confidence: 99%

Alexander Disease: A Case Report and Review of the Literature

Reichard

Ball

Bove

1996

Pediatric Pathology & Laboratory Medicine

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Alexander disease (AD) is a rare progressive lethal leukodystrophy usually affecting infants and characterized by progressive failure of central myelination and accumulation of Rosenthal fibers (RFs) in astrocytes. Despite strong male predilection and infrequency of involved siblings, an autosomal recessive mode of inheritance is presumed. We report a typical case of infantile AD with imaging studies, a complete autopsy, and a critical literature review. Recent studies of AD have identified several stress proteins plus glial fibrillary protein as major constituents of RFs but have not clarified the basic defect. Advances in understanding of astrocyte function suggest an important role in the process of myelination that may be interrupted in AD. The nosology of putative juvenile-onset and adult-onset examples continues to be uncertain.

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Value of brain biopsy in neurodegenerative disease in childhood.

Cited by 15 publications

References 18 publications

Diagnostic Yield of Brain Biopsies in Children Presenting to Neurology

Diagnostic Yield of Brain Biopsies in Children Presenting to Neurology

Cardiac biopsy in childhood.

Alexander Disease: A Case Report and Review of the Literature

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