89,90 There are usually no associated brain anomalies or other congenital malformations, although occasionally the SBH can merge anteriorly with pachygyric cortex which has been described as a “pachy-band.”79 Microscopic examination of SBH shows the band to consist of a superficial zone of disorganized neurons, an intermediate
zone of small neurons with some columnar organization and a deeper zone where the heterotopia may break into nodules. Trie overlying cortex has a normal histological appearance.65 All forms of SBH are thought to be a defect of neuroblast migration with neurons that fail to migrate completely SGC-CBP30 ic50 forming the heterotopic band.91 Patients Inhibitors,research,lifescience,medical with SBH will usually have mild-to-moderate intellectual disability and a mixed seizure disorder with onset at any age, but occasionally delayed until the second or third decade.87,92,93 The spectrum of epilepsy and intellectual Inhibitors,research,lifescience,medical disability is wide with severity roughly correlating with the thickness of the heterotopic
band.92 Typical SBH shows a striking skewing of sex ratio to females,87,91 although the malformation has rarely been reported in males as well.94,97 Occasional patients with mild partial forms of SBH may appear asymptomatic.90 Patients with SBH usually have no dysmorphic features or other congenital anomalies. SBH is rarely recognized using CT Inhibitors,research,lifescience,medical scanning and when seen may be mistaken for lissencephaly, and partial forms may be difficult
to appreciate, even using MRI. MRI will show a four-layered cerebral parenchyma composed of (from ventricle to cortex); (i) normal periventricular white matter; (ii) layer of heterotopic gray matter; (iii) thin layer of subcortical white matter; and (iv) normal Inhibitors,research,lifescience,medical cortical gray matter,92 as shown in Figure 6. Figure 6. Imaging features of subcortical band heterotopia. Sagittal (left) and coronal (right) T1-weighted MRIs showing typical features of subcortical band heterotopia with bilateral, symmetric band of tissue with identical signal to cortical Inhibitors,research,lifescience,medical gray matter interspersed … Mutations in two genes have been identified as causing SBH; the DCX gene and the LIS1 gene. The vast, majority of both sporadic SB-3CT and familial cases of the most common form of SBH (bilateral, symmetric, and with a frontal predominance) are due to mutations of DCX. 89,98 As DCX is carried on the X chromosome males with mutations in DCX will usually have classical lissencephaly whereas females will have SBH. It is assumed that females with SBH secondary to DCX mutations have two populations of neurons; those with the mutant gene inactive that migrate normally and form the cortex, and those with the normal gene inactivated that migrate abnormally and form the heterotopic band. Carriers of mild DCX mutations may show no evidence of SBH on MRI, but may have intellectual disability or epilepsy.