Biopsy diagnosis of familial Alexander's disease.
A 26-year-old woman presented with headaches, incoordination and a cerebellar mass (1982). The CT scan revealed dilated ventricles and a hypodense space-occupying lesion adjacent to the fourth ventricle. Neuronal loss, gliosis and masses of Rosenthal fibers were seen in biopsy. There was no evidence of neoplasm. A second biopsy 2 years later was similar to the original specimen. A diagnosis of Alexander's disease was suggested. Later that year the patient's 11-year-old brother manifested a clinical picture initially diagnosed as brainstem glioma, but whose biopsy was characteristic of Alexander's disease. There has been a gradual deterioration of these siblings over the past 6 years (1986-1991). No evidence of neoplasm has appeared.
Duckett
S
S
B.J. Alpers Neuropathology Laboratory, Department of Neurology, Jefferson Medical College, Philadelphia, Pa.
Schwartzman
R J
RJ
Osterholm
J
J
Rorke
L B
LB
Friedman
D
D
McLellan
T L
TL
D000328:Adult; D001253:Astrocytes / Q000473:pathology*; D001928:Brain Diseases, Metabolic / Q000235:genetics* / Q000473:pathology; D002648:Child; D003459:Crystallins / Q000032:analysis; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000032:analysis; D005911:Gliosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007382:Intermediate Filaments / Q000648:ultrastructure; D008279:Magnetic Resonance Imaging; D008297:Male; D008854:Microscopy, Electron; D009410:Nerve Degeneration / Q000235:genetics* / Q000502:physiology; D014057:Tomography, X-Ray Computed
D003459:Crystallins; D005904:Glial Fibrillary Acidic Protein