PMC10022729_01
Brain computed tomography revealed subarachnoid hemorrhage (the red arrow) and irregular hypointensity shadows beside the right lateral ventricle (the white arrow).
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F1
Brain computed tomography revealed subarachnoid hemorrhage and irregular hypointensity shadows beside the right lateral ventricle (Figure 1).
Changes in fasting blood glucose and 2-h postprandial blood glucose. On day 24, the child was treated with low-dose sulfonylureas (SUs). On day 29, blood glucose fluctuation was reduced by combined treatment with oral SUs and small and frequent meals.
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A line graph of the blood glucose levels before and 2 h after the daily meals demonstrates that the patient's blood glucose fluctuated widely (Figure 2). Figure 2 shows that blood glucose levels tended to be stable over time.
Sanger sequencing analysis of the KCNJ11 gene showing detection of a mutation, c.175G>A (p.V59M), in the proband.
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On day 19 after admission, c.175G>A heterozygous mutation in exon 1 (NM_ 000525.3) of KCNJ11 was found by a targeted gene panel sequencing, resulting in the erroneous encoding of the amino acid at position 59 as methionine instead of valine (p.V59M) that generally leads to iDEND syndrome (Figure 3).
Findings in sequential MRI brain scans. (A) was taken upon admission in October 2018, showing multiple spots of white matter hyperintensities (in the right central semiovale, lateral ventricle, and basal ganglia) with focal hemorrhage. Patchy, limited diffuse, high signal intensity can be seen in the right central semiovale, lateral ventricle, basal ganglia, and the right side of the brain stem in diffusion-weighted imaging (DWI). (B) Obtained in March 2021, there were still multiple cerebral injuries with enlarged encephalomalacia in the right centrum semiovale, lateral ventricle, and basal ganglia compared with those seen in the previous scan.
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Enlarged brain injuries and encephalomalacia were observed in the right central semioval, lateral ventricle, and basic ganglia (Figure 4).
PMC10022729_02
Findings in sequential MRI brain scans. (A) was taken upon admission in October 2018, showing multiple spots of white matter hyperintensities (in the right central semiovale, lateral ventricle, and basal ganglia) with focal hemorrhage. Patchy, limited diffuse, high signal intensity can be seen in the right central semiovale, lateral ventricle, basal ganglia, and the right side of the brain stem in diffusion-weighted imaging (DWI). (B) Obtained in March 2021, there were still multiple cerebral injuries with enlarged encephalomalacia in the right centrum semiovale, lateral ventricle, and basal ganglia compared with those seen in the previous scan.
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F4
Enlarged brain injuries and encephalomalacia were observed in the right central semioval, lateral ventricle, and basic ganglia (Figure 4).