6533b857fe1ef96bd12b4f4d
RESEARCH PRODUCT
Neuropathology of neurometabolic diseases in children with epilepsy.
Hans H. Goebelsubject
Pathologymedicine.medical_specialtyNeuropathologyGrey matterBiologyEntire brainWhite matterEpilepsyMiceDevelopmental NeuroscienceBiopsymedicineAnimalsHumansChildEpilepsymedicine.diagnostic_testPolioencephalopathyBrain Diseases MetabolicLeukodystrophyGeneral Medicinemedicine.diseasemedicine.anatomical_structurePediatrics Perinatology and Child HealthNeurology (clinical)Neurosciencedescription
Neurometabolic diseases are largely hereditary ones. They encompass lysosomal, peroxisomal, mitochondrial, and polyglucosan diseases as well as amino and organic acidemias/acidurias. Neuropathologically, the entire brain may be affected, i.e. pan-encephalopathy, the grey matter, preferentially being called polioencephalopathy or, when lesions might predominate in white matter, leukoencephalopathies/leukodystrophies. An important issue are extracerebral biopsies that facilitate or allow in vivo diagnosis and may be achieved by electron microscopy. Modern neuropathological techniques may retroactively be applied to archival tissues and those of modern mouse models.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2011-01-13 | Braindevelopment |