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Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report

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Affiliated Author(s)
김상표송광순최희정심예지김흥식이희정
Alternative Author(s)
Kim, Sang PyoSong, Kwang SoonChoi, Hee JoungShim, Ye JeeKim, Heung SikLee, Hee Jung
Journal Title
Annals of Pediatric Endocrinology & Metabolism
ISSN
2287-1012
Issued Date
2016
Keyword
Encephalocraniocutaneous lipomatosisJaffe-Campanacci syndromeGrowth hormone deficiency
Abstract
A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog’s diagnostic criteria. Café-au-lait spots were found on the left side of her trunk. Multiple nonossifying fibromas were found on her left proximal humerus, left distal femur, both proximal tibias, and left proximal fibula, suggesting Jaffe-Campanacci syndrome (JCS), following imaging of the extremities. Many JCS cases with multiple Café-au-lait macules, multiple nonossifying fibromas may actually have Neurofibromatosis type-1 (NF1). Thus, comprehensive molecular analysis to exclude NF1 mutation was performed using her blood sample. The NF1 mutation was not found. Her height was under the 3rd percentile and her bone age was delayed as compared with her chronological age. Baseline growth hormone (GH) level was below the normal range. Using the insulin stimulation and levodihydroxyphenylalanine tests, GH deficiency was confirmed. We present a case of GH deficiency with typical features of ECCL and JCS.
Department
Dept. of Pediatrics (소아청소년학)
Dept. of Orthopedic Surgery (정형외과학)
Dept. of Radiology (영상의학)
Dept. of Pathology (병리학)
Publisher
School of Medicine
Citation
Eun Mi Choi et al. (2016). Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report. Annals of Pediatric Endocrinology & Metabolism, 21(4), 240–244. doi: 10.6065/apem.2016.21.4.240
Type
Article
ISSN
2287-1012
DOI
10.6065/apem.2016.21.4.240
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/32350
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Orthopedic Surgery (정형외과학)
1. School of Medicine (의과대학) > Dept. of Pathology (병리학)
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
1. School of Medicine (의과대학) > Dept. of Radiology (영상의학)
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