Sublobar dysplasia

Abstract

We investigated the clinical presentations and neuroimaging characteristics of five patients with sublobar dysplasia, an unusual malformation of cortical development. Records and teaching files of five unrelated patients with a localized dysplasia of the cerebral hemisphere separated from the remainder of the affected lobe or hemisphere by a deep infolding of cortex (sublobar dysplasia) were retrospectively reviewed with regard to age at clinical presentation, manner of clinical presentation, neurologic examination, location of dysplasia, imaging characteristics, and the presence and type of associated malformations. Four of five patients presented with seizures; the fifth presented with a calvarial anomaly. All were neurologically and developmentally normal. MRI showed that the areas of sublobar dysplasia were frontal in two patients and temporal, parietal, and occipital in one patient each. The cortex in the affected region of brain was thickened with shallow sulci and an abnormal sulcal pattern in all affected patients. In three patients, the cortical-white matter junction was irregular. The ipsilateral lateral ventricle was dysplastic in all patients. Associated anomalies included callosal anomalies (five patients), cerebellar vermian hypoplasia (three patients), and venous malformation (one patient). Sublobar dysplasia appears to be a distinct cortical malformation of unknown etiology that causes no neurologic deficits but ultimately results in epilepsy. Possible causes include abnormal stem cell proliferation and in utero injury.

Prenatal diagnosis by 3D ultrasound and MRI of an unusual malformation of cortical development with brain‐in‐brain appearance

“…This malformation is not reported in Barkovich classification, even if similarities can be found with giant subcortical heterotopya. 18,22,23 However, in our case a clear infolding from the frontobasal surface was evident, suggesting giant focal invaginated gyral overgrowth with micropolymicrogyric pattern, rather than subcortical hererotopia. Widjaja et al 24 described few cases of holoprosencephaly associated with a midline mass of dysplastic cortex, named ''brain-in-brain'' malformation by the author.…”

Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis

“…A lesion confined to the middle part of Table 2 Resulting anomalies in absence of corpus callosum and commissura fornicis the CC is caused by a damage after the twentieth week of gestation, the end of normal CC formation [8]; however, exceptions to this rule have been reported [9]. A lesion confined to the middle part of Table 2 Resulting anomalies in absence of corpus callosum and commissura fornicis the CC is caused by a damage after the twentieth week of gestation, the end of normal CC formation [8]; however, exceptions to this rule have been reported [9].…”

A developmental and genetic classification for malformations of cortical development: update 2012

“…Also included in this category is sublobar dysplasia, a very rare malformation characterized by a region of dysmorphic brain within an otherwise normal-appearing hemisphere (Barkovich and Peacock, 1998). Histopathology, recently reported in a single patient, showed leptomeningeal and subcortical heterotopia, disturbance of cortical lamination, and marked cortical and subcortical astrocytosis, but no dysmorphic cells (Tuxhorn et al , 2009).…”