case_images: PMC11288868_01
case_images: Clinical profile of children with SSR4-CDG. (A). Distinctive facial features including microcephaly, deep-set eyes, binaural ear screens with accessible redundancy, small mandibles, and more skin on the neck. (B). Abdominal radiograph report (at 1 day of age): deepened and blurred texture in both lungs; congenital diaphragmatic eventration on the right side. (C). Electroencephalogram (EEG). (1) The background pattern is a normal voltage partial continuum pattern with amplitudes of about 4-39 uv in the QS phase and 7-24 uv in the AS phase, with poor bilateral symmetry. (2) More mature sleep-wake cycle-like activity is seen. (3) No typical epileptiform seizures were seen.
case_images: fgene-15-1402883-g001.jpg
case_images: PMC11288868_01_fgene-15-1402883-g001.jpg
case_images: F1
case_images: On admission, the case weighed 2.420 kg, measured 46 cm long with a head circumference of 31 cm, a breathing rate of 62 times per minute, and an unusual face (Figure 1A), including microcephaly, micrognathia, deep-set eyes, and tragus of both ears reaching vegetation. Complete chest and abdominal X ray showed a diaphragmatic eventration on the right side (Figure 1B). The 24 h electroencephalogram (EEG) (Figure 1C) showed only frontotemporal spikes and spikes with no typical epileptiform seizures.