전두봉합유합증(Metopic synostosis)을 동반한 DiGeorge 증후군: 증례보고

A Case of DiGeorge Syndrome with Metopic Synostosis

  • 김수민 (가톨릭대학교 의과대학 성형외과학교실) ;
  • 박선희 (가톨릭대학교 의과대학 성형외과학교실) ;
  • 강낙헌 (충남대학교 의과대학 성형외과학교실) ;
  • 변준희 (가톨릭대학교 의과대학 성형외과학교실)
  • Kim, Sue-Min (Department of Plastic & Reconstructive Surgery, College of Medicine, The Catholic University of Korea, St. Mary's Hospital) ;
  • Park, Sun-Hee (Department of Plastic & Reconstructive Surgery, College of Medicine, The Catholic University of Korea, St. Mary's Hospital) ;
  • Kang, Nak-Heon (Department of Plastic & Reconstructive Surgery, College of Medicine, Chungnam National University) ;
  • Byeon, Jun-Hee (Department of Plastic & Reconstructive Surgery, College of Medicine, The Catholic University of Korea, St. Mary's Hospital)
  • 투고 : 2010.08.26
  • 심사 : 2010.10.20
  • 발행 : 2011.01.10

초록

Purpose: We report a patient with DiGeorge syndrome who was later diagnosed as mild metopic synostosis and received anterior 2/3 calvarial remodeling. Methods: A 16-month-old boy, who underwent palatoplasty for cleft palate at Chungnam National University Hospital when he was 12 months old of age, visited St. Mary's Hospital for known DiGeorge syndrome with craniosynostosis. He had growth retardation and was also diagnosed with hydronephrosis and thymic agenesis. His chromosomal study showed microdeletion of 22q11.2. On physical examination, there were parieto-occipital protrusion and bifrontotemporal narrowing. The facial bone computed tomography showed premature closure of metopic suture, orbital harlequin sign and decreased anterior cranial volume. The interorbital distance was decreased (17 mm) and the cephalic index was 93%. Results: After the correction of metopic synostosis by anterior 2/3 calvarial remodeling, the anterior cranial volume expanded with increased interorbital distance and decreased cephalic index. Fever and pancytopenia were noted at 1 month after the operation, and he was diagnosed as hemophagocytic lymphohistiocytosis by bone marrow study. He however, recovered after pediatric treatment. There was no other complication during the 12 month follow up period. Conclusion: This case presents with a rare combination of DiGeorge syndrome and metopic synostosis. When a child is diagnosed with DiGeorge syndrome soon after the birth, clinicians should keep in mind the possibility of an accompanying craniosynostosis. Other possible comorbidities should also be evaluated before the correction of craniosynostosis in patients as DiGeorge syndrome. In addition, postoperative management requires a thorough follow up by a multidisciplinary team of plastic surgeons, neurosurgeons, ophthalmologists and pediatricians.

키워드

참고문헌

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