Table 1.
Neurosurgical treatments, cortical malformations, and developmental sequalae in PTEN-CH patients (modified from [24]) with permission.
| Subject | Treatment | Aqueductal stenosis | Cavum septum pellucidum | Cerebellar tonsillar ectopia | Corpus callosum abnormalities | Intracranialcyst | Megalencephaly | Polymicrogyria | Septal agenesis | White matter signal abnormality | White matter volume loss | Craniofacial abnormality | Developmental delay | Epilepsy | Hernia | Macrocephaly | Skeletal abnormalities |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KCHYD71-1 | ETV | + | − | + | + | − | − | + | − | + | + | − | − | − | − | + | − |
| KCHYD420-1 | Shunted | − | − | + | − | − | − | + | − | − | + | − | + | − | + | + | − |
| KCHYD460-1 | Shunted>ETV> Shunted | − | + | + | − | − | − | − | − | + | + | + | + | − | + | + | + |
| KCHYD381-1 | Shunted | + | − | + | − | − | − | − | − | + | − | − | + | − | − | + | − |
| KCHYD487-1 | Shunted | + | − | + | + | − | − | − | − | + | + | − | + | − | − | + | − |
ETV: Endoscopic third ventriculostomy
KCHYD71-1 also exhibits mildly rotated thalami, prominence of the subarachnoid spaces overlying the cerebral convexities, small ill-defined enhancing focus in the left centrum semiovale adjacent to a medullary vein may represent a capillary telangiectasia or developmental venous anomaly
KCHYD420-1 also exhibits dilated perivascular spaces and pineal cyst
KCHYD460-1 also exhibits asymmetric caudate nuclei, signal abnormality in the globus pallidus, prominence of the extra-axial CSF spaces overlying the left cerebral convexity most pronounced at the parietal region near the vertex
KCHYD381-1 also exhibits pineal cyst
KCHYD487-1 also exhibits right lateral intraventricular cyst