PMC7344189_01
Dysmorphic features and variant analysis. (A) Photographs of our patient at 7 years and 5 months showing brachycephaly, a flat face, a thin upper lip, and low-set ears. (B) The proband had the c.1745dupG variant of DDX3X (p), leading to a premature stop codon; however, her parents had no detectable variants (f and m).
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F1
Then, she received levetiracetam again after abnormal interictal video-EEG presentations (Supplementary Figure 1, EEG), and was seizure free following daily administration of 5 mg/kg levetiracetam for 3 months. When on admission at 7 years and 5 months, the patient's weight was 25 kg (75th centile), with microcephaly (OFC 49 cm, <3rd centile), dysmorphic features (brachycephaly, a flat face, a thin upper lip, low-set ears; Figure 1A), high-arched palate, wide-based gait, precocious puberty, and mild lower extremity hyperreflexia.
Brain MRI findings at 7 years and 2 months. (C-1, C-2) Axial T2 weighted image and coronal T2 FLAIR demonstrate mild enlargement of the lateral ventricles. (C-3) Coronal T2 FLAIR demonstrates reduced volume of the bilateral hippocampus (arrow), with peculiar temporal horn dilatation.
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Her brain magnetic resonance imaging (MRI) scan at the age of 7 years showed a reduced volume of the bilateral hippocampus, suggesting hippocampus atrophy, with enlargement of the lateral ventricles and peculiar temporal horn dilatation (Figure 2).