Figure 2

Clinical features and neuroradiological phenotype of ABCC9 patients. (A) Clinical photographs. Patient 1-1 at age 30 exhibits hypotelorism, broad nasal tip and large frontal incisors. Patients 2-1 and 2-2 show a variable association of cognitive impairment and spasticity, with a more severe involvement and decerebrate posture in Patient 2-1. Patient 5-1 shows microcephaly, hypotonia, spasticity, drooling and kyphosis. She also has dysmorphic features consisting of bossing forehead, sparse thin hair, epicanthic folds, prominent nose, retrognathia and low set ears. Patient 6-1 at age 13 shows synophrys, anteverted nostrils, thin upper lip and small chin. Epidermal scar-like nevus left cheek. (B) Neuroimaging findings of patients compared with a normal control. Brain MRI studies with sagittal T₁-weighted (far left image), axial T₂ or fluid-attenuated inversion recovery (FLAIR) (middle two images) and coronal T₂ or FLAIR images (far right image) performed in Patient 1-1 at 15 years of age, Patient 3-1 at 9 months of age, Patient 5-1 at 10 months of age, Patient 6-1 at 7 years of age, and Patient 6-2 at 1 years and 8 months of age. Head CT, axial images, performed in Patients 3-1 and 6-1 at 6 months and 7 years, respectively. There is reduction of parieto-occipital white matter volume with T₂/FLAIR hyperintensities and squared-appearance of the lateral ventricles in all subjects (empty arrows). The signal abnormalities extend to the frontal lobes in Patients 1-1, 5-1, 6-1 and 6-2 (arrowheads) and to the anterior temporal regions in Patients 1-1 and 5-1 (thick arrows). Note the small cavitations in the frontal regions in Patient 1-1 and the involvement of the anterior portions of the external capsules (dashed arrows) in Patients 1-1 and 5-1. The corpus callosum is thin in Patients 1-1, 3-1 and 5-1 (curved arrows). Axial CT images reveal multiple small calcifications at the level of the frontal periventricular white matter and right putamen in Patient 3-1 and at the level of the fronto-parietal white matter and cortex in Patient 6-1 (thin arrows).