Related Experiment Videos
Alexander's disease: a case report of a biopsy proven case
Insights
This case study details infantile Alexander's disease, a rare neurological disorder. Diagnosis involved identifying Rosenthal fibers and abnormal myelination in a young child's brain biopsy.
Area of Science:
- Neuroscience
- Pediatric Neurology
- Rare Diseases
Background:
- Alexander's disease is a rare, progressive, often fatal, leukoencephalopathy characterized by the hallmark presence of Rosenthal fibers.
- Infantile onset Alexander's disease typically presents in the first two years of life with macrocephaly and developmental delay.
Observation:
- A two-and-a-half-year-old male child presented with progressive macrocephaly since birth.
- Brain biopsy revealed subpial and perivascular Rosenthal fibers, diffuse dysmyelination, and reactive astrocytes.
Findings:
- Rosenthal fibers were immunoreactive for glial fibrillary acidic protein (GFAP) and ubiquitin.
- Electron microscopy confirmed Rosenthal fibers as intra-astrocytic and extracellular granular osmiphilic collections.
Implications:
- This case highlights the diagnostic features of infantile Alexander's disease.
- Understanding the histopathological findings is crucial for accurate diagnosis and management of this rare leukoencephalopathy.
Abstract:
A case of infantile onset Alexander's disease in a two and a half year old male child is presented, who had progressively increasing macrencephaly since birth. A frontal lobe biopsy revealed collections of Rosenthal fibres in the subpial and perivascular areas with diffuse dysmyelination and presence of reactive astrocytes. The Rosenthal fibres were immunoreactive for glial fibrillary acidic protein and ubiquitin. Electron microscopic examination showed the Rosenthal fibres as intra-astrocytic and extracellular granular osmiphilic collections.