Polycystische Umwandlung des Marklagers mit progredientem Verlauf

Childhood Ataxia With Central Nervous System Hypomyelination: A Report of First Two Cases With Juvenile and Adult - Onset Forms in a Turkish Family

“…Our patients did not experience any traumas or stress before the appearance of clinical symptoms. The episodes of rapid deterioration are typically less substantial in patients with a later onset [1,14]. Both of our patients had mild spasticity, pyramidal signs, mild cerebellar signs with normal motor and mental development until late childhood and adulthood, confirming the typical course of the disease in juvenile and adult-onset forms.…”

“…The first pathological description of the disease was made in 1962 by Eicke in a 36-year-old woman with gait difficulties and secondary amenorrhea [1] and it was rediscovered by Hanefeld and colleagues in 1993 and Schiffman in 1994 as a clinical entity characterized by childhood-onset progressive leukoencephalopathy with an autosomal recessive mode of inheritance [2,3]. Diagnostic criteria are normal early motor and mental development with a chronic progressive or episodic course of neurological deterioration following infection or trauma, presence of cerebellar ataxia and spasticity as evident clinical symptoms and the Magnetic resonance imaging (MRI) findings of bilateral cerebral white matter involvement and varying degrees of cerebellar atrophy [4][5][6][7].…”

Vanishing white matter disease: A review with focus on its genetics

“…The response of the oligodendrocytes is more variable. In some VWM brains an augmentation in the number of oligodendrocytes is observed [Eicke, 1962;Girard et al, 1968;Gautier et al, 1984;Graveleau et al, 1985;van der Knaap et al, 1998;Rodriguez et al, 1999;Van Haren et al, 2004], whereas others found the number to be reduced [Watanabe and Muller, 1967;Anzil and Gessaga, 1972;Deisenhammer and Jellinger, 1976;van der Knaap et al 1997]. A remarkable feature of the VWM oligodendrocytes is that they are morphologically abnormal [Wong et al, 2000].…”

“…Most reports describe hyperplastic astrocytes, increased in numbers in the relatively spared white matter and present in lower numbers in the cavitated areas [Eicke, 1962;Girard et al, 1968;Anzil and Gessaga, 1972;Deisenhammer and Jellinger, 1976; Gautier al., 1984;Schiffmann et al, 1994;van der Knaap et al, 1997;Rodriguez et al, 1999;Wong et al, 2000]. Astrocytes have been described as abnormal with blunt processes [Eicke, 1962;Girard et al, 1968;Anzil and Gessaga, 1972;Deisenhammer and Jellinger, 1976;Gautier et al, 1984;Schiffmann et al, 1994;van der Knaap et al, 1997;Rodriguez et al, 1999;Wong et al, 2000]. The response of the oligodendrocytes is more variable.…”

“…Hanefeld [1993] and Schiffmann [1994] described MRI and MRS findings, but it was not until 1997 that researchers realized the MRI and MRS features were indicative of white matter rarefaction and cystic degeneration, as confirmed by autopsy [van der Knaap et al, 1997]. In 1998, it was realized that the disease had been described multiple times before with detailed descriptions of postmortem findings [Eicke, 1962;Watanabe and Muller, 1967;Girard et al, 1968;Anzil and Gessaga, 1972;Deisenhammer and Jellinger, 1976;Gautier et al, 1984;Graveleau et al, 1985;van der Knaap et al, 1998]. Many case reports have followed since [Topcu et al, 2000;Sugiura et al, 2001;Biancheri et al, 2003].…”