Park Jisun, Jeon Minjun, Maeng Seri, Kwon Dae Kyu, Kim Sujin, Lee Ji Eun
Department of Pediatrics, Inha University Hospital, Incheon, Korea.
Department of Psychiatry, Inha University Hospital, Incheon, Korea.
Ann Pediatr Endocrinol Metab. 2023 Sep;28(3):225-230. doi: 10.6065/apem.2244066.033. Epub 2022 Jun 30.
Hypothalamic hamartomas (HHs) are nonneoplastic mass lesions located in the hypothalamus that can cause central precocious puberty (CPP) and/or gelastic seizures. Seckel syndrome 5 (OMIM210600, SCKL5) is a rare autosomal recessive genetic spectrum disorder characterized by intrauterine growth retardation, proportionate osteodysplastic primordial dwarfism, a wide range of intellectual disability, "bird-headed" facial features, and microcephaly with various structural brain abnormalities. Two siblings presented with short stature and small head circumference and were diagnosed with SCKL 5. The younger sister had HH with CPP and experienced a slipped capital femoral epiphysis during treatment. The 2 siblings had the same genetic variant but showed different phenotypes, which has not been reported previously; this study also as presents the first cases of SCKL5 diagnosed by genetic confirmation in Korea.
下丘脑错构瘤（HHs）是位于下丘脑的非肿瘤性肿块病变，可导致中枢性性早熟（CPP）和/或痴笑发作。塞克尔综合征5（OMIM210600，SCKL5）是一种罕见的常染色体隐性遗传性谱系障碍，其特征为宫内生长迟缓、匀称性骨发育不良性原始侏儒症、广泛的智力残疾、“鸟头”样面部特征以及伴有各种脑结构异常的小头畸形。两名兄弟姐妹表现为身材矮小和头围小，被诊断为SCKL 5。妹妹患有HH并伴有CPP，在治疗期间发生了股骨头骨骺滑脱。这两名兄弟姐妹具有相同的基因变异，但表现出不同的表型，此前未见报道；本研究也是韩国首例经基因确诊的SCKL5病例。
