THE CLINICAL CHARACTERISTICS OF MALFORMATIONS OF CORTICAL DEVELOPMENT IN THIRTEEN PEDIATRIC CASES INCLUDING FAMILIAL AND SPORADIC CASES IN TAIWAN

Objectives: Malformations of cortical development (MCDs) represent a major cause of epilepsy and variable degree of developmental delay. We try to clarify the correlation among variable MCDs, epilepsy and mental retardation.

Methods: We described 13 children (7 male, 6 female) with MCDs (diagnosed age from 6 months-old to 16 years old) identified by the MRI findings including 2 familial cortical hetrerotopia (CH), 2 familial periventricular nodular heterotopia (PNH), 3 familial pachygyria, 1 sporadic polymicrogyria (PM), 2 sporadic cortical dysplasia, 3sporadic PNH. Furthermore, we analyzed the correlation with occurrence of epilepsy and developmental disorder among these cases.

Results: Nine of them developed epilepsy including 3 familial pachygyria, 2 familial PNH, 2 sporadic cortical dysplasia and 1 sporadic PNH. We also demonstrated ten of them showing variant degree of developmental delay, mental retardation and autism including all 5 PNH, all 3 familial pachygyria, 1 CH and 1 PM. Surprisingly, we noted four cases of PNH without epilepsy; and the remainder of PNH with epilepsy having perinatal asphyxia and leukoencephalopathy that may contribute to his seizure disorder. Conversely, all cases of pachygyria and cortical dysplasia developed epilepsy. Interestingly, 7 cases attributed to familial MCDs in three families displayed very similar MRI findings respectively.

Conclusion: In conclusion, we shared our experience of clinical characteristics in familial and sporadic pediatric cases with MCDs in Taiwan. However, further molecular and genetic investigation should be investigated to further clarify their clinical characteristics.