Abstract
We report the intra vitam histopathological findings on the brain of a female patient presenting an adult form of orthochromatic leukodystrophy. At 38 years of age the patient began to show progressive dementia and a pseudobulbar syndrome. The pedigree revealed an autosomal dominant pattern of inheritance. The CT scan showed a wide hypodensity of the anterior white matter. Biochemical investigations showed only a slight elevation of serum VLCFA and no alteration of urinary enzymatic activities. Cortical and subcortical biopsy specimens from the rught frontal lobe showed: neuronal loss in the gray matter, accumulation of autofluorescent material within residual neurons and sudanophilic material within macrophages and astrocytes, sparing of axons. Electron microscopy showed lamination and fragmentation of the myelin and the presence of electrondense bodies and vesicular material into oligodendrocytes and astrocytes.
We discuss the differential diagnosis of OLD forms with adult onset, namely between Löwenberg-Hill disease and the pure form of OLD with pigmented glial cells.
Sommario
Vengono riportate le caratteristiche istopatologiche cerebrali “intra vitam” di una paziente che presentava una forma ad inizio tardivo di leucodistrofia ortocromatica.
All'età di 38 anni la paziente iniziò a manifestare un progressivo decadimento mentale ed una sindrome pseudobulbare. L'albero genealogico mostrava una ereditarietà a trasmissione autosomica dominante. Alle immagini Tc risultava un'ampia ipodensità della sostanza bianca anteriore. Le indagini biochimiche evidenziavano solo un modesto incremento dei VLCFA e nessuna alterazione delle attività enzimatiche urinarie. I campioni bioptici corticali e subcorticali prelevati dal lobo frontale mostravano una perdita neuronale nella sostanza grigia, accumulo di materiale autofluorescente dentro i neuroni residui e materiale sudanofilo all'interno dei macrofagi e degli astrociti, risparmio degli assoni. La microscopia eletronica rivelava slaminazione e frammentazione della mielina e la presenza di corpi elettrondensi e materiale vescicoloso all'interno di oligodendro ed astrociti. Viene discussa la diagnosi differenziale tra le forme di leucodistrofia ortocromatica ad esordio tardivo, quindi tra la malattia di Lowenber-Hill e la forma pura di leucodistrofia ortocromatica con accumulo di pigmento nelle cellule gliali.
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Calandriello, L., Matteucci, C., Bertini, E. et al. Biopsy diagnosis of a case of adult onset orthochromatic leukodystrophy. Clinical and brain biopsy findings. Ital J Neuro Sci 13, 787–792 (1992). https://doi.org/10.1007/BF02229165
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DOI: https://doi.org/10.1007/BF02229165