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The radiological features of hemimegalencephaly including three cases associated with proteus syndrome
P D Griffiths1, R J Welch, D Gardner-Medwin
1Department of Neuroradiology, Newcastle General Hospital, UK.
Insights
This study details the radiological features of hemimegalencephaly in five children, noting associated brain anomalies and early-onset seizures. Some cases required hemispherectomy, highlighting the condition's severity.
Area of Science:
- Pediatric Radiology
- Neuroimaging
- Developmental Neuroscience
Background:
- Hemimegalencephaly is a rare congenital brain malformation.
- Limited radiological literature exists on this condition.
- Understanding its imaging features is crucial for diagnosis and management.
Observation:
- The study reviewed radiological findings in five pediatric cases of hemimegalencephaly.
- Two patients presented with isolated hemimegalencephaly.
- Three patients had hemimegalencephaly associated with Proteus syndrome.
Findings:
- Four children experienced early-onset seizures (within 6 months of life).
- Two patients underwent hemispherectomy due to intractable seizures.
- Commonly observed anomalies included corpus callosum and crus cerebri hypoplasia, calcifications, and cortical migration disorders.
Implications:
- Radiological assessment is vital for identifying hemimegalencephaly and associated anomalies.
- Early diagnosis may guide timely intervention for seizure management.
- Further research can elucidate the spectrum of brain malformations in hemimegalencephaly.
Abstract:
We report the radiological appearances of 5 children with hemimegalencephaly. There are few reports of this rare condition in the radiological literature. Two of the children have hemimegalencephaly as an isolated finding while the other three have Proteus syndrome. Four children have seizures which commenced within the first 6 months of life and two of these subsequently required hemispherectomy. In addition to the typical radiological features of hemimegalencephaly there was a high incidence of other brain anomalies. These include hypoplasia of the corpus callosum and crus cerebri, grey and white matter calcification and cortical migration/organisational disorders.