A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome
- Affiliations
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- 1Department of Pediatrics, Department of Genome Medicine and Science, Gil Medical Center, Gachon University College of Medicine, Incheon, Korea.
- 2Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea. chaeped1@snu.ac.kr
- 3Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
- 4Department of Radiology, Woorisoa Children's Hospital, Seoul, Korea.
- 5Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
- 6Cell Logistics Research Center and School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Korea.
- 7Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
- KMID: 2451130
- DOI: http://doi.org/10.3988/jcn.2019.15.3.407
Abstract
- No abstract available.
MeSH Terms
Figure
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Fig. 1 Radiology, photograph and Sanger sequencing. Magnetic resonance angiography images of the brain show bilateral stenosis/occlusion (red arrows) of the proximal middle and anterior cerebral arteries in the proband (II-2) (A) and complete occlusion (yellow arrow) of the left middle and anterior cerebral arteries and focal narrowing of the right proximal middle cerebral artery in his sister (II-1) (B). Radiographic photographs of the proband show bilateral metaphyseal irregularities with cupped and enchondromata-like streaks in the radius and ulna (C and D), and generalized platyspondyly of the vertebral bodies with a rectangular shape (E). Skin lesions of the proband were suggestive of Raynaud's phenomenon (F). Pedigrees and Sanger sequencing revealed compound heterozygous variants of ACP5 in both affected siblings: c.136C>T (p.R46W) and c.449T>A (p.V150E). The black arrow indicates the proband (II-2) (G). WT: wild type.
Reference
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