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Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to
P Labrune1, C Lacroix, F Goutières
1Department of Pediatrics, Hôpital Beclère, Clamart, France.
Insights
A novel childhood cerebral disorder presents with cognitive decline, seizures, and neurological signs. Imaging reveals progressive calcifications and cysts, suggesting a diffuse cerebral microangiopathy.
Area of Science:
- Neurology
- Neuroscience
- Pediatric Neurology
Background:
- Describes a newly identified cerebral disorder affecting children.
- Highlights the importance of early diagnosis and understanding rare neurological conditions.
Observation:
- Presents with cognitive slowing, seizures, and motor deficits from infancy to adolescence.
- CT scans show progressive basal and cerebellar gray nuclei calcifications.
- MRI reveals diffuse white matter abnormalities and parenchymal cysts.
Findings:
- Neuropathology shows microvessel abnormalities and degenerative changes.
- Suggests a constitutional, diffuse cerebral microangiopathy as the underlying cause.
- Disease progression involves microcystic and macrocystic degeneration.
Implications:
- Understanding this microangiopathy is crucial for diagnosis and management.
- Further research into the genetic and molecular basis is warranted.
- Potential for novel therapeutic strategies targeting cerebral microvascular diseases.
Abstract:
A new cerebral disorder, described in three unrelated children, has recognizable clinical, radiologic, and neuropathologic findings. The onset occurs from early infancy to adolescence with slowing of cognitive performance, rare convulsive seizures, and a mixture of extrapyramidal, cerebellar, and pyramidal signs. CT shows progressive calcifications in the basal and cerebellar gray nuclei and the central white matter. MRI reveals diffuse abnormal signals of the white matter on T2-weighted sequences. A special feature is the development of parenchymal cysts in the cerebellum and the supratentorial compartment, leading to compressive complications and surgical considerations. Neuropathologic examination of surgically removed pericystic samples reveals angiomatous-like rearrangements of the microvessels, together with degenerative secondary changes of other cellular elements. Both the anatomic findings and the course of the disease suggest a constitutional, diffuse cerebral microangiopathy resulting in microcystic, then macrocystic, parenchymal degeneration.