PMC10382204_01
EEG showed short diffuse bursts of epileptic anomalies (20/s/pg, 10 muV/mm, 0,1 s, 30 Hz).
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F1
Follow-up routine EEG showed focal paroxysmal anomalies in the phase of reduced alertness and short diffuse bursts of epileptic abnormalities (Figure 1).
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.
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F2
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).
(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).
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F3
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).