A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome

Affiliations

• ¹ Department of Pediatrics, Department of Genome Medicine and Science, Gil Medical Center, Gachon University College of Medicine, Incheon, Korea.
• ² Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
• ³ Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
• ⁴ Department of Radiology, Woorisoa Children's Hospital, Seoul, Korea.
• ⁵ Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
• ⁶ Cell Logistics Research Center and School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Korea.
• ⁷ Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
• ⁸ Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea. chaeped1@snu.ac.kr.