A case of macrocephaly, hydrocephalus, megacerebellum, white matter abnormalities and Rosenthal fibres
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M Torreman1, L M Smit, P van der Valk
1Department of Neurosurgery, University Hospital, Amsterdam.
Insights
This study describes a rare case of Alexander's disease in a child with unusual cerebellar symptoms. The findings suggest a distinct subtype of Alexander's disease primarily affecting the cerebellum.
Area of Science:
- Neuroscience
- Neuropathology
- Pediatric Neurology
Background:
- Alexander's disease is a rare genetic leukoencephalopathy.
- Typically presents in infancy or childhood with progressive neurological decline.
Observation:
- A young boy presented with macrocephaly, cerebellar signs, and elevated intracranial pressure.
- MRI revealed aqueductal obstruction, cerebellar enlargement, and white matter abnormalities.
- Cerebellar biopsy showed Rosenthal fibers and glial proliferation.
Findings:
- The case presented with features atypical for classic Alexander's disease.
- Histopathological and neuroradiological findings suggested a variant form.
- This variant appears to have a predominant cerebellar involvement.
Implications:
- Suggests a distinct subtype of Alexander's disease with primary cerebellar pathology.
- This subtype may have a more favorable prognosis compared to classic forms.
- Highlights the importance of considering variant presentations in diagnosing leukoencephalopathies.
Abstract:
The authors report the case of a young boy with macrocephaly, cerebellar symptoms and signs of raised intracranial pressure. Magnetic resonance imaging showed obstruction of the aqueduct, ventricular enlargement of the cerebellum and areas of increased signal intensity in the cerebellar and frontal white matter. A stereotactic biopsy of the cerebellum showed many Rosenthal fibres and glial proliferation. Although the histopathological and neuroradiological findings were suggestive of Alexander's disease, the initial presentation and clinical course were unusual for this diagnosis. The authors suggest that a separate form of Alexander's disease should be distinguished with predominant clinical, neuroradiological and neuropathological cerebellar involvement. This form also seems to have a better life-expectancy.