PMC9459111_01
Photographs of the patients in this study. (A,B) Showed makeup appearance. (C,D) Showed short fingers.
fped-10-933693-g001.jpg
PMC9459111_01_fped-10-933693-g001.jpg
F1
His facial examination showed arched eyebrows, long palpebral fissures with lateral eversion of the lower eyelids, inverse epicanthus, wide nasal bridge, lower lip concave, and large ears (Figures 1A,C). Other characteristics, including brachydactyly and prominent fetal finger pads, are shown in Figures 1B,D.
Sanger sequencing of the case family. (A) Showed pedigree of the family. (B) A heterozygous G > A substitution was confirmed by sanger sequencing at position c.15143, changing an arginine codon into a histidine codon at amino acid position 5,048 (p.R5048H). (C) The variant is at the exon 48 of the KMT2D gene (NM_003482.3) but not at any domain of the KMT2D protein. PHD, plant homeotic domain; HMG-box, high mobility group-box; FYRN, FY- rich N-terminal domain; FYRC, FY-rich C- terminal domain; SET, Su (var) 3-9, enhancer-of-zeste and Trithorax domain.
fped-10-933693-g002.jpg
PMC9459111_01_fped-10-933693-g002.jpg
F2
Sanger sequencing confirmed that the child's parents did not carry the variant, so we determined it as a de novo heterozygous variant (Figure 2).
PMC9459111_02
The imaging findings of this patient. (A) Chest X-ray (2021-08-11) showed a massive, diffuse bilateral large pulmonary consolidation. (B) The chest X-ray after therapy (2022-01-04). (C) The chest X-ray (2022-02-01) suggested extensive exudate. (D) After abnormal bronchial artery was embolized, the follow-up chest X-ray (2022-03-10) was significantly better than before. (E) Chest CT (2021-08-08) revealed increased patchy and flaky shadows were evident in both lungs, and a local thickening of bilateral pleura was seen. (F) The chest CT after therapy showed better than Figure 3E (2021-09-05). (G) The DSA showed right bronchial artery originated from the thoracic aorta. (H) The DSA showed left bronchial artery originating from the aortic arch.
fped-10-933693-g003.jpg
PMC9459111_03_fped-10-933693-g003.jpg
F3
The chest X-ray suggested extensive exudate (Figure 3C) with a drop in hemoglobin (7.3 g/dl). After undergoing DSA, it was observed that the left bronchial artery originates from the aortic arch, the right bronchial artery originates from the thoracic aorta, and the left and right trunk inferior phrenic arteries originate from the right renal artery (Figures 3G,H). Abnormal bronchial artery embolization was done successfully. The follow-up chest X-ray examination was significantly better than before (Figure 3D), the hemoglobin was elevated (10.2 g/dl), and there were no symptoms of dyspnea as found recently.
PMC9459111_03
The imaging findings of this patient. (A) Chest X-ray (2021-08-11) showed a massive, diffuse bilateral large pulmonary consolidation. (B) The chest X-ray after therapy (2022-01-04). (C) The chest X-ray (2022-02-01) suggested extensive exudate. (D) After abnormal bronchial artery was embolized, the follow-up chest X-ray (2022-03-10) was significantly better than before. (E) Chest CT (2021-08-08) revealed increased patchy and flaky shadows were evident in both lungs, and a local thickening of bilateral pleura was seen. (F) The chest CT after therapy showed better than Figure 3E (2021-09-05). (G) The DSA showed right bronchial artery originated from the thoracic aorta. (H) The DSA showed left bronchial artery originating from the aortic arch.
fped-10-933693-g003.jpg
PMC9459111_03_fped-10-933693-g003.jpg
F3
The chest X-ray suggested extensive exudate (Figure 3C) with a drop in hemoglobin (7.3 g/dl). After undergoing DSA, it was observed that the left bronchial artery originates from the aortic arch, the right bronchial artery originates from the thoracic aorta, and the left and right trunk inferior phrenic arteries originate from the right renal artery (Figures 3G,H). Abnormal bronchial artery embolization was done successfully. The follow-up chest X-ray examination was significantly better than before (Figure 3D), the hemoglobin was elevated (10.2 g/dl), and there were no symptoms of dyspnea as found recently.