case_images: PMC10382204_01
case_images: EEG showed short diffuse bursts of epileptic anomalies (20/s/pg, 10 muV/mm, 0,1 s, 30 Hz).
case_images: fneur-14-1207176-g0001.jpg
case_images: PMC10382204_01_fneur-14-1207176-g0001.jpg
case_images: F1
case_images: Follow-up routine EEG showed focal paroxysmal anomalies in the phase of reduced alertness and short diffuse bursts of epileptic abnormalities (Figure 1).
case_images: Patient at 9 years and 8 months of age (A-F). (A) Hypertelorism, periorbital fullness, epicanthus, esotropia, thick alae nasi, and microretrognathia; (B) pectus excavatum; (C) scoliosis, congenital vascular anomalies that disappeared upon pressure in the occiput, vertex, and multiple in the back; (D) small and spaced teeth; (E) widening of the proximal interphalangeal joints of the hands; and (F) flat feet with sandal gap and II-III toe partial cutaneous syndactyly (red circle and arrow). Patient at 12 years and 6 months of age (G-I). Note the more pronounced nose and microretrognathia.
case_images: fneur-14-1207176-g0002.jpg
case_images: PMC10382204_01_fneur-14-1207176-g0002.jpg
case_images: F2
case_images: During clinical follow-up, a progressively more elongated face and a more pronounced nasal bridge were noticed (Figure 2). He also showed vascular anomalies: visible vessels on the lower eyelids and congenital vascular anomalies (flat angiomas) that disappeared upon pressure, some in the occiput and vertex, and multiple in the back (Figure 2).
case_images: (A) Brain MRI performed at 6 years of age. Cysts of the septum pellucidum and the cavum vergae (blue arrow). (B) Brain CT scan performed at 3 years of age. Right choanal atresia (red arrow).
case_images: fneur-14-1207176-g0003.jpg
case_images: PMC10382204_01_fneur-14-1207176-g0003.jpg
case_images: F3
case_images: Brain MRI at 6 years revealed cysts of the septum pellucidum and of the cavum vergae (Figure 3A). A brain CT scan performed at 3 years of age revealed right choanal atresia (Figure 3B).