0000000000121466
AUTHOR
H.h. Goebel
Keratopathie als Zeichen einer multifokalen kongenitalen sensiblen Polyneuropathie
Patient. Bei einer 63-jahrigen Patientin bestanden seit 10 Jahren beidseits rezidivierende korneale Ulzera mit Trubungen, Vaskularisation und aufgehobener Sensibilitat. Daneben fanden sich asymmetrisch angeordnete hypasthetische Areale. Sensible Nervenaktionspotenziale der betroffenen Regionen waren nicht ableitbar, sensorisch evozierte Potenziale fielen pathologisch aus, Muskeleigenreflexe waren ausgefallen. In der Suralisbiopsie zeigte sich ein hochgradiger Mangel an markhaltigen Axonen. Erworbene Polyneuropathieformen konnten ausgeschlossen werden. Therapie. Nach konservativen Therapieversuchen erfolgte wegen der vaskularisierten Hornhautnarbe eine perforierende Keratoplastik am linken A…
Muscle Biopsy; Processing and Evaluation
Muscle biopsy is a diagnostic procedure to recognize myopathological lesions in skeletal muscle. It may be an open surgical procedure or performed by needle biopsy. The muscle biopsy ought to target a myopathologically affected muscle, chosen by clinical features and/or myoimaging. Preparative techniques entail histology, electron microscopy, enzyme histochemistry, and immunohistochemistry, but it is essential to leave additional tissue for possible subsequent biochemical and molecular investigations. The backbone of light microscopic, diagnostic studies is unfixed frozen muscle tissue with cross-sectioned muscle fibers. Correct archiving of biopsied muscle tissue for future diagnostic and …
Morphological aspects of the neuronal ceroid lipofuscinoses
Morphological aspects of the neuronal ceroid lipofuscinoses (NCL) encompass two main features: loss of nerve cells and accumulation of autofluorescent lipopigments within cellular compartments. The former requires histology and morphometry for assessment, while the latter necessitates fluorescence microscopy, electron microscopy, and immunohistochemistry. Accumulation of lipopigments is widespread throughout the central nervous system and extracerebrally. The latter feature enables diagnosis of NCL and its clinical subtype. Loss of neurons is most pronounced in cerebral and cerebellar cortices, in early childhood forms. In subcortical grey matter and in later-onset forms, juvenile and adult…