Focal polymicrogyria in mother and son
R H Caraballo1, R O Cersósimo, E Mazza
1Department of Neurology, Pediatric Hospital Prof. Juan P. Garrahan, Buenos Aires, Argentina. rcaraballo@janssen.com.ar
Insights
This study details a familial case of congenital hemiparesis and cortical dysplasia, likely inherited in an autosomal-dominant pattern. The condition involves neurological abnormalities and seizures, suggesting a genetic link.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Congenital hemiparesis is a neurological condition affecting one side of the body from birth.
- Cortical dysplasia involves abnormal development of the brain's cerebral cortex.
- Familial inheritance patterns are crucial for understanding the etiology of neurological disorders.
Observation:
- A 9-year-old boy presented with congenital hemiparesis, intellectual quotient of 80, and later developed seizures.
- Brain imaging revealed right fronto-parietal cortical dysplasia with ipsilateral hemisphere atrophy, polymicrogyria, or pachygyria.
- The boy's mother, also diagnosed with congenital hemiparesis, had normal EEG but similar brain imaging findings.
Findings:
- The patient exhibited seizures, including hemifacial motor and atonic types, with asymmetric bilateral spike discharges on EEG.
- Both mother and son showed right fronto-parietal cortical dysplasia with ipsilateral hemisphere atrophy.
- Normal karyotypes in both individuals suggest the anomaly is not due to chromosomal abnormalities.
Implications:
- The familial occurrence suggests a probable autosomal-dominant transmission of cortical dysplasia and hemiparesis.
- Understanding this inheritance pattern can aid in genetic counseling and diagnosis for similar cases.
- Further research into the specific genes involved in this familial neurological anomaly is warranted.
Abstract:
This 9-year-old boy was admitted at the age of 2 with a diagnosis of congenital hemiparesis while the rest of physical and neurological examination was normal. His score in the Wechsler intelligence scale was 80. Right fronto-parietal cortical dysplasia with hemisphere atrophy was evident by computerized tomography scanning and magnetic resonance imaging. The latter, also disclosed abnormal thick cortex which was interpreted as polymicrogyria or pachygyria. Karyotype was normal. He had a hemifacial motor seizure at the age of 7. At the age of 8 frequent atonic or inhibitory seizures were presented. Asymmetric bilateral spike discharges with high voltage in the right hemisphere during the EEG recording were found. His mother, a 35-year-old woman (Full scale; Adult intelligence scale: 85) also had congenital hemiparesis. She never had seizures and her EEG was normal. Magnetic resonance imaging disclosed right fronto-parietal cortical dysplasia with ipsilateral hemisphere atrophy. Karyotype was normal. Our cases should be interpreted as a familial presentation of the anomaly, probably with autosomal-dominant transmission.
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