Discussion

Subependymal grey matter heterotopia (SGMH) is a rare neurodevelopmental disorder resulting from defective neuronal migration during embryogenesis. This condition leads to ectopic grey matter along the ventricular walls and has been implicated in various neurological manifestations, particularly epilepsy [1]. The case of this 6-month-old male with seizures highlights the clinical significance and diagnostic challenges of SGMH in the context of associated neuroanatomical abnormalities, such as corpus callosum dysgenesis and colpocephaly. GMW is genetically heterogeneous, with 146 genes and chromosomal loci identified as potential causes and is associated with epilepsy, cognitive deficits, and other neurodevelopmental disorders [2]. CT is an important modality for diagnosis which reveals ectopic gray matter in various locations. Interestingly, this case also showed features suspicious for closed-lip bilateral parieto-occipital schizencephaly, a structural anomaly characterized by abnormal clefts in the cerebral hemispheres. While schizencephaly and SGMH are distinct conditions, their coexistence has been reported in the literature, likely reflecting a shared disruption in neuronal migration and cortical organization during fetal development. The dilated cerebrospinal fluid spaces in the left posterior fossa and benign enlargement of the subarachnoid spaces are incidental findings that are not uncommon in infants. These findings do not appear to contribute to the primary neurological presentation but may warrant monitoring to rule out progressive hydrocephalus or increased intracranial pressure. The clinical presentation of seizures in this case is consistent with the known association between SGMH and epilepsy, attributed to the abnormal cortical organization and ectopic grey matter’s role in generating epileptiform activity [2]. Management of such cases typically involves a multidisciplinary approach, including seizure control with antiepileptic medications, developmental assessments, and genetic counseling.