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Microcephaly associated with abnormal gyral pattern
L Sztriha1, A Dawodu, A Gururaj
1Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates. sztriha@uaeu.ac.ae
Abstract:
Primary microcephaly is a heterogeneous group of cerebral malformations either with a relatively well-preserved or an abnormal gyral pattern. We describe the MRI findings and clinical features of 14 children with the combination of microcephaly and an abnormal gyral pattern. All children except one were Arabs and nine out of the 14 patients were born to consanguineous parents. Seven patients showed features of a simplified gyral pattern with relatively preserved posterior fossa structures. Two boys had a cortical malformation in the agyria-pachygyria spectrum; one of these two patients showed agenesis of the corpus callosum and severe cerebellar hypoplasia as well. The microcephaly was associated with polymicrogyria and leukoencephalopathy in two patients, with cortical dysplasia and hypogenesis of the corpus callosum in one patient, with agyria-pachygyria with callosal and pontocerebellar dysplasia in one patient, and a simplified gyral pattern with severe cerebellar hypoplasia in one case. One patient died in the neonatal period and three in infancy. All patients, who survived the neonatal period, had developmental delay, intellectual disability, and neurological deficits, and nine suffered from epilepsy.
Insights
Primary microcephaly, a brain malformation, presents diverse gyral patterns. This study details MRI findings and clinical features in 14 children, highlighting associated neurological deficits and epilepsy.
Area of Science:
- Neurology
- Pediatrics
- Radiology
Background:
- Primary microcephaly is a heterogeneous condition characterized by reduced head circumference and brain size.
- It can manifest with either a normal or abnormal gyral pattern, indicating variations in cortical development.
Purpose of the Study:
- To describe the magnetic resonance imaging (MRI) findings and clinical features of 14 children with microcephaly and abnormal gyral patterns.
- To investigate the spectrum of cerebral malformations associated with microcephaly.
Main Methods:
- Retrospective analysis of MRI scans and clinical data from 14 pediatric patients.
- Detailed description of gyral patterns, corpus callosum development, posterior fossa structures, and other brain anomalies.
Main Results:
- Fourteen children with microcephaly and abnormal gyral patterns were identified; most were of Arab ethnicity and from consanguineous families.
- Observed malformations included simplified gyral patterns, agyria-pachygyria spectrum, polymicrogyria, cortical dysplasia, leukoencephalopathy, and agenesis or hypoplasia of the corpus callosum.
- Significant cerebellar hypoplasia was noted in several cases.
- High mortality rate in the neonatal period and infancy.
- Survivors exhibited developmental delay, intellectual disability, neurological deficits, and epilepsy in nine cases.
Conclusions:
- Microcephaly with abnormal gyral patterns represents a severe spectrum of cerebral malformations with significant morbidity and mortality.
- Associated anomalies, particularly corpus callosum and cerebellar involvement, contribute to the clinical phenotype.
- Early diagnosis and management are crucial for affected individuals.
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