[Infantile and late-onset type of globoid cell leucodystrophy in one family (author's transl)].
Globoid cells leucodystrophy was diagnosed by specific enzyme assays in two siblings of one family. A male infant presented the typical symptoms of hyperirritability and progressive loss of psychomotor functions beginning at the age of 4 months. The progression of the disease lead to decerebration and death at 19 months of age. The elder sister had a normal development until her third year, when she developed exclusively symptoms of peripheral neuropathy. Up to the moment there are no symptoms of cortical function loss.
D000367:Age Factors; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis; D011596:Psychomotor Disorders / Q000175:diagnosis; D014057:Tomography, X-Ray Computed
Die unterschiedliche klinische Symptomatik der Globoidzell-Leukodystrophie (M. Krabbe) in einer Familie.