Abstract
Advances in the pathophysiology and clinical behavior of NF-1 associated optic pathway gliomas (OPG) made over the past 10 years are examined, and evidence-based recommendations for diagnosis and management are proposed by researchers from Children's Memorial Hospital, Chicago; St Thomas's Hospital, London; Children's Hospital of Philadelphia; University of Pennsylvania School of Medicine, Philadelphia; and Washington University School of Medicine, St Louis, MO, The initial diagnostic and management guidelines proposed by a task force in 1997 are extended, and unanswered questions are addressed.
Highlights
Elevated plasma and CSF lactate are good indicators of mitochondrial disease (MD), but specific etiologies require molecular diagnosis
Advances in the pathophysiology and clinical behavior of NEUROFIBROMATOSIS 1 (NF-1) associated optic pathway gliomas (OPG) made over the past 10 years are examined, and evidence-based recommendations for diagnosis and management are proposed by researchers from Children's Memorial Hospital, Chicago; St Thomas's Hospital, London; Children's Hospital of Philadelphia; University of Pennsylvania School of Medicine, Philadelphia; and Washington University School of Medicine, St Louis, MO, The initial diagnostic and management guidelines proposed by a task force in 1997 (Listernick R et al Ann Neurol 1997;41:143-149) are extended, and unanswered questions are addressed
Children 6 years and younger are at greatest risk, but older children and adults with NF-1 are susceptible
Summary
A high level of suspicion for mitochondrial disease (MD) is recommended in the evaluation of patients with unexplained organ dysfunction. In diagnosis of MD, the above authors propose initial least-invasive techniques such as fibroblast culture, and blood DNA testing for specific etiologies. Muscle and/or liver biopsy should be deferred, pending the results of fibroblast culture and blood DNA. In a large series of MD patients published in 1995 (Jackson MJ et al Brain 1995;118:339-357), the most useful confirmatory diagnostic test was histochemical analysis of muscle.
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