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Epidermal nevus syndrome with hemimegalencephaly: neuropathological study
R Sakuta1, H Aikawa, S Takashima
1Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan.
Brain & Development
|July 1, 1991
Summary
This study examined brain abnormalities in a child with epidermal nevus syndrome and hemimegalencephaly, revealing white matter volume increase and neuronal migration disorders.
Area of Science:
- Neuropathology
- Developmental Neuroscience
- Neurodevelopmental Disorders
Background:
- Epidermal nevus syndrome (ENS) is a rare congenital disorder.
- Hemimegalencephaly involves abnormal enlargement of one cerebral hemisphere.
- Understanding the neuropathologic basis of ENS with hemimegalencephaly is crucial.
Observation:
- A 5-year-old boy with ENS and hemimegalencephaly underwent neuropathologic examination.
- The examination focused on the left cerebral hemisphere, which showed hemihypertrophy.
- Cerebral polymicrogyria, pachygyria, heterotopic neurons, and astrogliosis were observed.
Findings:
- Left hemimegalencephaly was characterized by increased white matter volume.
- Golgi staining revealed hypertrophic neurons with increased dendrites and spines.
- These findings suggest a germinal cell proliferation disorder impacting white matter development and neuronal migration.
Implications:
- The neuropathologic findings provide insights into the pathogenesis of hemimegalencephaly in ENS.
- This case highlights the link between germinal cell abnormalities and complex brain malformations.
- Further research can explore therapeutic targets for neuronal migration disorders.