Alexander's disease: a case report with brain biopsy, ultrasound, CT scan and MRI findings.
Alexander's disease is reported in a 6-month-old infant. The clinical course was characterized by hydrocephalus, irritability and psychomotor retardation, with subsequent seizures and spasticity. Findings on ultrasound examination, computerized tomography, magnetic resonance imaging and brain biopsy are presented. The glial nature of the Rosenthal fibers was confirmed by immuno-gold staining. Clinical classification and differential diagnosis are discussed.
Arend
A O
AO
Institute of Child Health, University of Cape Town, South Africa.
Leary
P M
PM
Rutherfoord
G S
GS
D001253:Astrocytes / Q000473:pathology; D001706:Biopsy; D001921:Brain / Q000473:pathology*; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000473:pathology*; D004453:Echoencephalography; D005625:Frontal Lobe / Q000473:pathology; D005904:Glial Fibrillary Acidic Protein / Q000032:analysis; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000473:pathology*; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000648:ultrastructure*; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000473:pathology*; D007381:Intermediate Filament Proteins / Q000032:analysis; D007382:Intermediate Filaments / Q000648:ultrastructure; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000473:pathology*; D009419:Nerve Tissue Proteins / Q000032:analysis; D009460:Neurologic Examination; D011494:Protein Kinases; D014057:Tomography, X-Ray Computed; D038203:alpha-Crystallin B Chain
C059215:CRYAB protein, human; D005904:Glial Fibrillary Acidic Protein; D007381:Intermediate Filament Proteins; D009419:Nerve Tissue Proteins; D038203:alpha-Crystallin B Chain; D011494:Protein Kinases