Table 1

In-depth overview of intracranial features of the study cohort based on available imaging

FeatureParticipants, n/n evaluated(%)
Incomplete hippocampal inversion 26/41 (63.4)
Posterior fossa malformations* 29/44 (65.9)
 Large cisterna magna25/44(56.8)
 Dandy-Walker continuum1/44(2.3)
Large cisterna magna with low attachment of tentorium and low torcula2/44(4.5)
Inferior cerebellar vermis hypoplasia1/44(2.3)
Lateral ventricle morphology abnormalities 15/41 (36.6)
Dilation of lateral ventricles10/41(24.4)
Dysmorphic atria5/41(12.2)
Temporal horn enlargement4/41(9.8)
Other ventricular dysmorphisms5/41(12.2)
Cysts* 5/44 (11.4)
Arachnoid cyst4/44(9.1)
Choroid plexus cyst1/44(2.3)
Subependymal cyst1/44(2.3)
Pars intermedia cyst1/44(2.3)
White matter abnormalities 8/41 (19.5)
Generalised reduction of white matter thickness2/41(4.9)
Peritrigonal reduction of white matter thickness2/41(4.9)
Localised signal alterations of white matter4/41(9.8)
Periventricular leukomalacia1/41(2.4)
Gliosis of the peritrigonal regions1/41(2.4)
Left cerebellar hemisphere porencephaly1/41(2.4)
Patulous internal auditory canal* 8/12 (66.7)†
Empty sella 4/39 (10.3)
Vascular abnormalities 3/6 (50.0)†
Other brain imaging abnormalities 11/41 (26.8)
Widened subarachnoid space2/41(4.9)
Dilation of perivascular space3/41(7.3)
Abnormal corpus callosum morphology2/41(4.9)
Olfactory nerve/bulb abnormalities2/41(4.9)
Ocular/optic nerve abnormalities2/41(4.9)
Dilation of Meckel’s cave1/41(2.4)
Agenesis of septum pellucidum1/41(2.4)
Lipoma tuber cinereum1/41(2.4)
  • *Evaluated on both MRI and CT scan.

  • †Unlikely to be representative of the entire population (sample size too small).